374:
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482:(NER) enzymes are mutated, leading to a reduction in or elimination of NER. If left unchecked, damage caused by ultraviolet light can cause mutations in individual cell's DNA. The causes of the neurological abnormalities are poorly understood and are not connected with exposure to ultraviolet light. The most current theories suggest that oxidative DNA damage is generated during normal metabolism in the central nervous system, and that some types of this damage must be repaired by NER.
60:
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467:
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gene in tumors from XP patients reveal p53 mutations characteristic of UV exposure in the majority of tumors As with all genetic disorders, genetic counseling and psychological support is appropriate for the families to discuss probability of occurrence in future pregnancies, feelings of isolation
485:
Since DNA repair is under genetic control, it can mutate. Many genetic disorders such as xeroderma pigmentosum (XP; MIM 278700) are caused by mutations in genes that repair damaged DNA. XP affects the mechanism that repairs UV damage in skin cell DNA. Those affected with the autosomal recessive
356:
The disease affects about 1 in 100,000 worldwide. By region, it affects about 1 in 370 in India, 1 in 20,000 in Japan, 1 in 250,000 people in the United States and 1 in 430,000 in Europe. It occurs equally commonly in males and females. Xeroderma pigmentosum was first described in the 1870s by
2044:
Sijbers AM, de Laat WL, Ariza RR, Biggerstaff M, Wei YF, Moggs JG, Carter KC, Shell BK, Evans E, de Jong MC, Rademakers S, de Rooij J, Jaspers NG, Hoeijmakers JH, Wood RD (September 1996). "Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease".
1218:
Research into XP has had two main results: better understanding the disease itself, and also better understanding the normal biological mechanisms involved in DNA repair. Research into XP has produced insights that have been translated into treatments and prevention for cancer.
489:
The molecular defects in XP cells result in a greatly elevated induction of mutations in sun-exposed skin of affected individuals. This increased mutation frequency probably accounts for the pigmentation changes and the skin cancers. Examination of mutations in the
486:
disorder XP are extremely sensitive to UV light produced by the sun and develop pigmented spots, tumors, and skin cancer with minimal exposure. Individuals with XP are about 1,000 times more likely to develop skin cancer than individuals without the disorder.
326:. In people with xeroderma pigmentosum, this damage is not repaired. As more abnormalities form in DNA, cells malfunction and eventually become cancerous or die. Diagnosis is typically suspected based on symptoms and confirmed by
922:
There is no cure for the disorder; all treatment is symptomatic or preventive. Symptoms can be avoided or controlled by completely avoiding exposure to sunlight, either by staying indoors or wearing protective clothing and using
2098:
Barnhoorn S, Uittenboogaard LM, Jaarsma D, Vermeij WP, Tresini M, Weymaere M, Menoni H, Brandt RM, de Waard MC, Botter SM, Sarker AH, Jaspers NG, van der Horst GT, Cooper PK, Hoeijmakers JH, van der Pluijm I (October 2014).
572:(TTD), or a combination of XP and Cockayne syndrome (XPCS). Both trichothiodystrophy and Cockayne syndrome display features of premature aging, suggesting an association between deficient DNA repair and premature aging (see
1253:
1201:, tells the story of a girl named Yến Phương with XP and the impact of her sickness on her life and relationships, following the story of Phương's accidental exposure to sunlight and subsequent neurological degeneration.
1209:
is a 2018 American romantic drama film based on the 2006 Japanese film A Song to the Sun. The film was directed by Scott Speer and written by Eric
Kirsten, and stars Bella Thorne, Patrick Schwarzenegger, and Rob Riggle.
2421:"Family in Twilight for Sun-Sensitive Girls : Health: Two daughters have a rare genetic intolerance that leaves victims vulnerable to skin cancers, blindness and neurological damage after exposure to sunlight"
961:
If a person is diagnosed early, does not have severe neurological symptoms, and takes precautionary measures to completely avoid any exposure to UV light and sunlight, they may be able to survive until middle age.
610:
to incise the damaged DNA strand on the 5' side of the damaged site. Mutant cells with deficient ERCC1-XPF are not only defective in NER, but also in the repair of double-strand breaks and inter-strand crosslinks.
2796:
3526:
2649:
2634:
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Daya-Grosjean L, Sarasin A (April 2005). "The role of UV induced lesions in skin carcinogenesis: an overview of oncogene and tumor suppressor gene modifications in xeroderma pigmentosum skin tumors".
3876:
3601:
2789:
1974:
van de Ven M, Andressoo JO, van der Horst GT, Hoeijmakers JH, Mitchell JR (November 2012). "Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse models".
1000:
XP has been a plot element in several fictional works. One of the common themes in films about XP is whether teens with XP will risk sun exposure in pursuit of a romantic partner.
2782:
1009:, a German silent-drama film which was released in two parts in the year of 1921 and 1922 respectively, were among some of the initially popular movies that were made about XP.
1702:"The 8,5'-cyclopurine-2'-deoxynucleosides: candidate neurodegenerative DNA lesions in xeroderma pigmentosum, and unique probes of transcription and nucleotide excision repair"
2468:
2226:
3869:
365:
for the condition, referring to its characteristic dry, pigmented skin. Individuals with the disease have been referred to as "children of the night" or "moon children".
606:
protein forms a complex usually designated ERCC1-XPF. This complex separates the DNA helix for a short distance on either side of the site of damage. It then acts as an
958:, the probability for individuals with the disorder to survive until 40 years of age may be as high as 70% if they have never been exposed to sunlight in their life.
939:. In more severe cases of XP, even minuscule amounts of UV light, for example, from covered windows or fluorescent bulbs, can be very dangerous and trigger symptoms.
4342:
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Oh KS, Khan SG, Jaspers NG, Raams A, Ueda T, Lehmann A, Friedmann PS, Emmert S, Gratchev A, Lachlan K, Lucassan A, Baker CC, Kraemer KH (November 2006).
622:
gene can lead to XP alone, or in combination with
Cockayne syndrome (CS), or in combination with infantile lethal cerebro-oculo-facio-skeletal syndrome.
495:
and concern about career prospects. There is no cure for xeroderma pigmentosum. The most common fate for individuals with XP is early death from cancer.
2511:
4304:
2957:
2586:
2394:
2009:
Iovine B, Iannella ML, Bevilacqua MA (December 2011). "Damage-specific DNA binding protein 1 (DDB1): a protein with a wide range of functions".
3457:
2952:
4134:
3759:
3453:
1931:
Andressoo JO, Hoeijmakers JH, Mitchell JR (December 2006). "Nucleotide excision repair disorders and the balance between cancer and aging".
2175:
3265:
3045:
3040:
3030:
2512:"A Rare Genetic Disorder Is Stalking the Children of the Navajo Nation In POV's 'Sun Kissed,' Premiering Thursday, Oct. 18, 2012, on PBS"
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974:. In 1882, Kaposi coined the term xeroderma pigmentosum for the condition, referring to its characteristic dry, pigmented skin.
4337:
942:
On
September 10, 2020, Clinuvel Pharmaceuticals announced that it was investigating the use of its FDA-approved flagship drug
3011:
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1684:
17:
977:
The 1968 paper about XP by James
Cleaver demonstrated the link between UV-induced DNA damage, faulty DNA repair and cancer.
3531:
3116:
2562:
2159:
895:
Xeroderma pigmentosum variant - these patients have mutation in a gene that codes for a specialized DNA polymerase called
614:
The XPG protein is an endonuclease that incises DNA during NER at the 3' side of the damaged nucleotide. Mutations in the
3006:
2774:
2664:
1843:"Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome"
3854:
3824:
3769:
183:
4127:
3296:
3126:
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2377:
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Sugasawa K, Ng JM, Masutani C, Iwai S, van der Spek PJ, Eker AP, Hanaoka F, Bootsma D, Hoeijmakers JH (August 1998).
1659:
1632:
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1093:, features two children, Anne and Nicholas, who must avoid all sunlight because of a rare disease characterized by
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ligase complexes. Substrates that are ubiquitinnated by these complexes include proteins employed in DNA repair.
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when exposed to only small amounts of sunlight. These often occur during a child's first exposure to sunlight.
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3727:
3354:
3277:
2991:
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553:(GG-NER). This complex recognizes a wide variety of damages that thermodynamically destabilize DNA duplexes.
187:
1892:"Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair"
478:
One of the most frequent defects in xeroderma pigmentosum is an autosomal recessive genetic defect in which
373:
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4120:
3182:
2874:
2275:
985:
Because people with XP need to strictly avoid sunlight, but can go outside at night, they have been called
41:
1140:, has XP and therefore must live most of his life during the night. The first two entries of the trilogy,
4352:
3885:
3799:
3516:
3176:
2420:
1407:"Photosensitivity, corneal scarring and developmental delay: Xeroderma Pigmentosum in a tropical country"
1165:
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as a potential treatment to increase pain-free light exposure for patients with xeroderma pigmentosum.
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479:
323:
2101:"Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency"
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3593:
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561:
2227:"FDA approves first treatment to increase pain-free light exposure in patients with a rare disorder"
1111:, was based on the story of the real-life couple Jim and Kim Harrison, whose two daughters have XP.
780:
Xeroderma pigmentosum group D or De
Sanctis-Cacchione syndrome (can be considered a subtype of XPD)
4249:
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supplementation is generally required. If skin cancer occurs, it is treated in the usual way. The
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4015:
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3131:
3094:
2942:
1622:
1248:
1183:
1148:
564:, is employed in unwinding the DNA duplex after damage is initially recognized. Mutations in the
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is based on a 13-year-old child with XP, which prevents him from exposing himself to daylight.
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2319:"Forty years of research on xeroderma pigmentosum at the US National Institutes of Health"
1308:
8:
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in at least nine specific genes able to result in the condition. Normally, the damage to
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1238:
560:) protein, in combination with the XPB helicase-containing transcription/repair complex
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List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer
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2251:"Scenesse (afamelanotide) for adults with a history of phototoxic reactions from EPP"
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for his first ever leading role as a young man in search of a cure for his disorder.
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1152:, were both published in 1998. The final entry in the trilogy, tentatively titled
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1987:
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295:, with about half having skin cancer by age 10 without preventative efforts, and
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Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
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explores the XP problem on the Navajo Indian
Reservation, and links it to the
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Eyes that are painfully sensitive to the sun and may easily become irritated,
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Friedberg EC, Walker GC, Siede W, Wood RD, Schultz RA, Ellenberger T (2006).
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955:
943:
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358:
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899:. Polymerase-η can replicate over the damage and is needed when cells enter
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XPE is a heterodimeric protein composed of two subunits. The larger subunit
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protein to form the initial damage recognition factor in global genomic
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Template:Congenital malformations and deformations of skin appendages
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Sugitani N, Sivley RM, Perry KE, Capra JA, Chazin WJ (August 2016).
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survivor Brett, falls in love with a girl named Shayla that has XP.
333:
There is no cure for XP. Treatment involves completely avoiding the
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and changes in skin pigmentation. Nervous system problems, such as
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398:
272:
94:
2669:
1621:
Griffiths C, Barker J, Bleiker T, Chalmers R, Creamer D (2016).
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of those with the condition is about 30 years less than normal.
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Focal palmoplantar keratoderma with oral mucosal hyperkeratosis
2638:
1162:
970:
Xeroderma pigmentosum was first described in 1874 by Hebra and
635:
There are seven complementation groups, plus one variant form:
546:
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features the story "Night Vision", in which the protagonist,
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2011:
1930:
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protein acts during NER as a scaffold for assembly of other
101:
in sun-exposed areas, dry skin, changes in skin pigmentation
4220:
918:
Child in UV-protective clothing during initial stages of XP
887:
859:
800:
649:
580:
1794:"XPA: A key scaffold for human nucleotide excision repair"
51:
Xeroderma pigmentosum complementation group A/B/C/D/E/F/G
1101:
1050:
710:
690:
Xeroderma pigmentosum group A - the classical form of XP
682:
523:
519:
504:
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393:
Signs and symptoms of xeroderma pigmentosum may include:
334:
315:
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Congenital hypertrophy of the lateral fold of the hallux
2250:
2008:
1791:
1674:
1564:
3618:
Template:DNA replication and repair-deficiency disorder
870:
Xeroderma pigmentosum group G and COFS syndrome type 3
526:
double helix after DNA damage is initially recognized.
291:, may also occur. Complications include a high risk of
287:, poor coordination, loss of intellectual function and
2612:
GeneReviews/NCBI/NIH/UW entry on xeroderma pigmentosum
2201:"SCENESSE® (afamelanotide 16mg) – Welcome to CLINUVEL"
2149:
1889:
1404:
299:. There may be a higher risk of other cancers such as
1565:
Lehmann AR, McGibbon D, Stefanini M (November 2011).
1541:. Springer Science & Business Media. p. 17.
2616:
2563:"Rare disease suddenly arises on Navajo Reservation"
1748:
1513:. U.S. Department of Health and Human Services. 2018
1511:
Genetic and Rare
Diseases Information Center (GARD)
2366:Almeida, Craig A.; Barry, Sheila A. (2011-08-26).
1840:
1742:
1405:Halpern J, Hopping B, Brostoff JM (October 2008).
3234:Diffuse nonepidermolytic palmoplantar keratoderma
2316:
4329:
2958:Nonbullous congenital ichthyosiform erythroderma
263:in which there is a decreased ability to repair
4343:DNA replication and repair-deficiency disorders
3423:Palmoplantar keratoderma and spastic paraplegia
2395:"No spark in sick teen romance - Baltimore Sun"
2150:Nussbaum R, McInnes R, Willard H (2016-01-01).
1470:NORD (National Organization for Rare Disorders)
4318:DNA replication and repair-deficiency disorder
3229:Diffuse epidermolytic palmoplantar keratoderma
2462:
1400:
1398:
1131:Christopher Snow, the protagonist of novelist
515:to ensure appropriate excision of the damage.
4128:
3870:
3760:Congenital malformations of the dermatoglyphs
2790:
1538:Molecular Mechanisms of Xeroderma Pigmentosum
1158:, has yet to be published as of August 2020.
522:(ERCC3) protein is employed in unwinding the
2365:
2224:
2091:
2002:
1967:
1924:
1834:
1785:
1624:Rook's Textbook of Dermatology, 4 Volume Set
1534:
1073:, was directed by Božidar Nikolić and stars
997:. These terms can be considered derogatory.
2037:
1883:
1693:
1395:
583:primarily functions as a core component of
345:may help decrease the risk of skin cancer.
48:Xeroderma pigmentosum I/II/III/IV/V/VI/VII
4305:Marfanoid–progeroid–lipodystrophy syndrome
4135:
4121:
3877:
3863:
3785:Melanotic neuroectodermal tumor of infancy
3522:Keratosis follicularis spinulosa decalvans
2953:Ichthyosis–sclerosing cholangitis syndrome
2797:
2783:
2369:Cancer: Basic Science and Clinical Aspects
2225:Commissioner, Office of the (2020-03-24).
1501:
1499:
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1301:
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271:(UV) light. Symptoms may include a severe
58:
4011:Hereditary nonpolyposis colorectal cancer
3745:Congenital cartilaginous rest of the neck
3340:Focal palmoplantar and gingival keratosis
2342:
2126:
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1907:
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377:Child with xeroderma pigmentosum in Nepal
341:and dark sunglasses when out in the sun.
322:from exposure to UV light is repaired by
53:xeroderma pigmentosum group A/B/C/D/E/F/G
3810:Rapidly involuting congenital hemangioma
3400:Keratosis punctata of the palmar creases
3395:Keratosis punctata palmaris et plantaris
3266:Clouston's hidrotic ectodermal dysplasia
2317:Kraemer KH, DiGiovanna JJ (March 2015).
1530:
1528:
1315:. U.S. Library of Medicine. 26 June 2018
913:
534:gene can lead to XP or XP combined with
465:
440:Limited growth of hair on chest and legs
385:Girl with xeroderma pigmentosum showing
380:
372:
45:XP1 / XP2 / XP3 / XP4 / XP5 / XP6 / XP7
4142:
2274:Kraemer, Kenneth H. (1 February 1987).
2273:
1679:. Washington: ASM Press. p. 1118.
1484:
1449:
1327:
568:gene cause a variety of syndromes; XP,
14:
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2418:
1699:
1654:. John Wiley & Sons. p. 313.
1647:
1609:
1555:
1355:
1276:
1213:
903:in the presence of a DNA-replication.
4116:
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2871:Congenital ichthyosiform erythroderma
2778:
2443:
2392:
2312:
2310:
2308:
1525:
498:
368:
337:. This includes protective clothing,
275:after only a few minutes in the sun,
97:after only a few minutes in the sun,
4229:Hutchinson–Gilford progeria syndrome
3532:Keratosis pilaris atrophicans faciei
3117:Dermatopathia pigmentosa reticularis
2292:10.1001/archderm.1987.01660260111026
1012:Other films, like the 1964 American
431:or freckling on minimum sun exposure
205:Completely avoiding sun or UV rays,
1041:, which was originally produced by
162:Based on symptoms and confirmed by
24:
3825:Superficial lymphatic malformation
3770:Congenital smooth muscle hamartoma
3239:Palmoplantar keratoderma of Sybert
2808:malformations and deformations of
2305:
1195:, based on a 2006 Japanese film,
1189:The 2016 Vietnamese romance drama
361:. In 1882, Kaposi coined the term
184:cerebrooculofacioskeletal syndrome
25:
4374:
3297:Scleroatrophic syndrome of Huriez
3127:Hypohidrotic ectodermal dysplasia
2605:
1571:Orphanet Journal of Rare Diseases
4098:Severe combined immunodeficiency
3410:Porokeratosis plantaris discreta
3367:Striate palmoplantar keratoderma
2591:(in Vietnamese), 7 November 2015
2535:
2446:"Review: 'Children of the Dark'"
1651:Medical Biochemistry at a Glance
452:Irregular dark spots on the skin
129:Becomes visible ~6 months of age
4021:Mismatch repair cancer syndrome
3835:Verrucous vascular malformation
3765:Congenital preauricular fistula
3735:Accessory nail of the fifth toe
3612:Template:Pigmentation disorders
3405:Schöpf–Schulz–Passarge syndrome
3385:Acrokeratoelastoidosis of Costa
3090:Laryngoonychocutaneous syndrome
2963:Ichthyosis linearis circumflexa
2948:Ichthyosis prematurity syndrome
2579:
2554:
2529:
2504:
2474:
2437:
2412:
2386:
2359:
2323:Photochemistry and Photobiology
2267:
2243:
2218:
2193:
2168:
2143:
1668:
1641:
225:is shortened by about 30 years.
3894:DNA repair-deficiency disorder
3449:Erythrokeratodermia variabilis
3360:Pachyonychia congenita type II
2393:Walsh, Katie (23 March 2018).
1069:, a 1988 American-Yugoslavian
836:Xeroderma pigmentosum group F
808:Xeroderma pigmentosum group E
746:Xeroderma pigmentosum group C
718:Xeroderma pigmentosum group B
13:
1:
4338:Autosomal recessive disorders
3775:Cystic lymphatic malformation
3728:Cavernous venous malformation
3355:Pachyonychia congenita type I
3278:Corneodermatoosseous syndrome
2938:Ichthyosis bullosa of Siemens
2514:. 7 June 2012. Archived from
2059:10.1016/s0092-8674(00)80155-5
1909:10.1016/s1097-2765(00)80132-x
1269:
931:can also be treated by using
545:protein forms a complex with
470:Xeroderma pigmentosum has an
188:erythropoietic protoporphyria
4265:DeSanctis–Cacchione syndrome
3972:DeSanctis–Cacchione syndrome
3918:Aicardi–Goutières syndrome 4
3183:Popliteal pterygium syndrome
2875:Epidermolytic hyperkeratosis
2482:"Frequently Asked Questions"
2118:10.1371/journal.pgen.1004686
2023:10.1016/j.biocel.2011.09.001
1988:10.1016/j.dnarep.2012.08.003
1810:10.1016/j.dnarep.2016.05.018
1771:10.1016/j.mrfmmm.2004.11.013
1718:10.1016/j.dnarep.2008.03.016
1229:DeSanctis–Cacchione syndrome
949:
909:
662:Also known as / description
625:
602:) protein together with the
67:An eight-year-old girl from
42:DeSanctis-Cacchione syndrome
7:
3815:Rosenthal–Kloepfer syndrome
3800:Omphalomesenteric duct cyst
3517:Keratolytic winter erythema
3177:Gerodermia osteodysplastica
1535:Ahmad S, Hanaoka F (2008).
1222:
461:
233:• 1 in 100,000 (worldwide)
10:
4379:
4270:Nijmegen breakage syndrome
4044:Nijmegen breakage syndrome
3960:Nucleotide excision repair
3390:Focal acral hyperkeratosis
3137:Ellis–van Creveld syndrome
1677:DNA repair and mutagenesis
980:
965:
574:DNA damage theory of aging
551:nucleotide excision repair
480:nucleotide excision repair
324:nucleotide excision repair
71:with xeroderma pigmentosum
4313:
4242:
4219:
4187:
4179:Rothmund–Thomson syndrome
4159:
4150:
4077:Rothmund–Thomson syndrome
4052:
4029:
3997:
3958:
3949:
3900:
3705:
3675:
3639:
3630:
3549:
3468:
3314:Papillon–Lefèvre syndrome
3215:
3201:
3154:
3103:
2980:
2930:
2912:
2885:Harlequin-type ichthyosis
2861:
2843:
2820:
2701:
2620:
2372:. John Wiley & Sons.
2255:SCENESSE® (Afamelanotide)
1627:. John Wiley & Sons.
1057:, was also based on this
229:
216:
201:
193:
169:
156:
141:
133:
125:
105:
87:
75:
66:
57:
37:
32:
3188:Pseudoxanthoma elasticum
2904:Sjögren–Larsson syndrome
1206:Midnight Sun (2018 film)
1066:The Dark Side of the Sun
630:
411:Rough-surfaced growths (
244:• 1 in 430,000 (Europe)
4243:Other/related disorders
3909:Separation/initiation:
3713:Aplasia cutis congenita
3132:Focal dermal hypoplasia
3095:Skin fragility syndrome
2943:Ichthyosis follicularis
2561:Bender A (2013-03-06).
2542:The Albuquerque Journal
2419:Holder K (1994-05-01).
2280:Archives of Dermatology
2276:"Xeroderma Pigmentosum"
2176:"Xeroderma pigmentosum"
1700:Brooks PJ (July 2008).
1567:"Xeroderma pigmentosum"
1507:"Xeroderma pigmentosum"
1466:"Xeroderma Pigmentosum"
1424:10.1186/1757-1626-1-254
1338:"Xeroderma pigmentosum"
1313:Genetics Home Reference
1309:"Xeroderma pigmentosum"
1249:List of skin conditions
1184:Long Walk of the Navajo
474:pattern of inheritance.
389:on the eyelid and mouth
267:such as that caused by
4280:Dyskeratosis congenita
4260:Baller–Gerold syndrome
4234:Restrictive dermopathy
4189:NER protein-associated
3939:Dyskeratosis congenita
3830:Thyroglossal duct cyst
3795:Nasolacrimal duct cyst
3718:Amniotic band syndrome
3512:Dyskeratosis congenita
3500:Dyskeratosis congenita
3350:Pachyonychia congenita
3261:Bart–Pumphrey syndrome
3193:Van der Woude syndrome
3168:Ehlers–Danlos syndrome
2444:Voros D (1994-04-15).
1584:10.1186/1750-1172-6-70
919:
475:
390:
378:
279:in sun-exposed areas,
238:• 1 in 22,000 (Japan)
171:Differential diagnosis
4285:Ataxia telangiectasia
4202:Xeroderma pigmentosum
4039:Ataxia–telangiectasia
3982:Xeroderma pigmentosum
3695:Nevus flammeus nuchae
3606:Template:Phakomatoses
3578:Hereditary lymphedema
3142:Rapp–Hodgkin syndrome
2831:Congenital ichthyosis
2752:Xeroderma Pigmentosum
2741:Xeroderma pigmentosum
2538:"Hiding From the Sun"
2471:, capradio.org, 2017.
2401:. Tribune New Service
1174:The 2012 documentary
1137:Moonlight Bay Trilogy
991:children of the night
917:
511:proteins at sites of
469:
384:
376:
363:xeroderma pigmentosum
253:Xeroderma pigmentosum
246:• 1 in 1,000,000 (UK)
33:Xeroderma pigmentosum
18:Xeroderma Pigmentosum
4250:Li–Fraumeni syndrome
4093:Li–Fraumeni syndrome
3685:Capillary hemangioma
3587:Urticaria pigmentosa
3345:Howel–Evans syndrome
3105:Ectodermal dysplasia
3046:Generalized atrophic
2182:. September 24, 2014
2152:Genetics in Medicine
1945:10.4161/cc.5.24.3565
1109:Children of the Dark
1087:psychological horror
1043:Four Star Television
1006:Children of Darkness
987:children of the dark
777:19q13.2-q13.3, 10q11
404:Development of many
241:• 1 in 250,000 (US)
235:• 1 in 370 (India)
4358:Progeroid syndromes
4255:Rapadilino syndrome
4207:Trichothiodystrophy
4144:Progeroid syndromes
4081:RAPADILINO syndrome
4016:Muir–Torre syndrome
4003:DNA mismatch repair
3372:Tyrosinemia type II
2922:X-linked ichthyosis
2880:Lamellar ichthyosis
2853:Ichthyosis vulgaris
2836:erythrokeratodermia
1763:2005MRFMM.571...43D
1214:Research directions
570:trichothiodystrophy
472:autosomal recessive
456:Corneal ulcerations
308:autosomal recessive
176:Trichothiodystrophy
150:autosomal recessive
4353:Hereditary cancers
3755:Congenital lip pit
3319:Haim–Munk syndrome
3271:Vohwinkel syndrome
3146:Hay–Wells syndrome
3122:Hay–Wells syndrome
2968:Ichthyosis hystrix
2894:Netherton syndrome
2702:External resources
1860:10.1002/humu.20392
1648:Salway JG (2011).
1122:How I Do Love Thee
1085:, a 2001 American
920:
897:polymerase-η (eta)
499:XP repair proteins
476:
391:
379:
369:Signs and symptoms
4325:
4324:
4295:PIBI(D)S syndrome
4290:De Barsy syndrome
4215:
4214:
4197:Cockayne syndrome
4110:
4109:
4106:
4105:
3968:Cockayne syndrome
3886:Metabolic disease
3852:
3851:
3848:
3847:
3780:Median raphe cyst
3740:Bronchogenic cyst
3662:PHACE association
3626:
3625:
3545:
3544:
3537:Keratosis pilaris
3481:Keratosis pilaris
3435:Carvajal syndrome
3415:Spiny keratoderma
3080:Costello syndrome
2976:
2975:
2772:
2771:
2588:Khúc hát mặt trời
2492:on 24 August 2018
2335:10.1111/php.12345
1751:Mutation Research
1686:978-1-55581-319-2
1244:Cockayne syndrome
1198:A Song to the Sun
1192:Khúc hát mặt trời
1003:Film series like
907:
906:
645:Diseases Database
536:Cockayne syndrome
250:
249:
197:No cure available
180:Cockayne syndrome
158:Diagnostic method
27:Medical condition
16:(Redirected from
4370:
4157:
4156:
4137:
4130:
4123:
4114:
4113:
3956:
3955:
3879:
3872:
3865:
3856:
3855:
3667:Sinus pericranii
3637:
3636:
3493:Darier's disease
3302:Olmsted syndrome
3213:
3212:
3113:Naegeli syndrome
3085:Kindler syndrome
2841:
2840:
2827:
2826:
2799:
2792:
2785:
2776:
2775:
2618:
2617:
2599:
2598:
2597:
2596:
2583:
2577:
2576:
2574:
2573:
2558:
2552:
2551:
2549:
2548:
2533:
2527:
2526:
2524:
2523:
2508:
2502:
2501:
2499:
2497:
2488:. Archived from
2478:
2472:
2466:
2460:
2459:
2457:
2456:
2441:
2435:
2434:
2432:
2431:
2425:Associated Press
2416:
2410:
2409:
2407:
2406:
2390:
2384:
2383:
2363:
2357:
2356:
2346:
2314:
2303:
2302:
2300:
2298:
2271:
2265:
2264:
2262:
2261:
2247:
2241:
2240:
2238:
2237:
2222:
2216:
2215:
2213:
2212:
2203:. Archived from
2197:
2191:
2190:
2188:
2187:
2172:
2166:
2165:
2161:978-14377-0696-3
2147:
2141:
2140:
2130:
2120:
2111:(10): e1004686.
2095:
2089:
2088:
2070:
2041:
2035:
2034:
2006:
2000:
1999:
1971:
1965:
1964:
1928:
1922:
1921:
1911:
1887:
1881:
1880:
1862:
1853:(11): 1092–103.
1838:
1832:
1831:
1821:
1789:
1783:
1782:
1746:
1740:
1739:
1729:
1697:
1691:
1690:
1672:
1666:
1665:
1645:
1639:
1638:
1618:
1607:
1606:
1596:
1586:
1562:
1553:
1552:
1532:
1523:
1522:
1520:
1518:
1503:
1482:
1481:
1479:
1477:
1462:
1447:
1446:
1436:
1426:
1402:
1393:
1392:
1390:
1389:
1380:. Archived from
1374:
1353:
1352:
1350:
1348:
1334:
1325:
1324:
1322:
1320:
1305:
1234:Genetic disorder
1119:young adult book
1115:Lurlene McDaniel
1105:television movie
1095:photosensitivity
1047:television pilot
1031:Charles Bickford
995:vampire children
842:Type G, VII, XPG
724:Type C, III, XPC
638:
637:
318:which occurs in
261:genetic disorder
146:Genetic disorder
82:Medical genetics
62:
30:
29:
21:
4378:
4377:
4373:
4372:
4371:
4369:
4368:
4367:
4328:
4327:
4326:
4321:
4309:
4238:
4211:
4183:
4169:Werner syndrome
4161:RecQ-associated
4146:
4141:
4111:
4102:
4072:Werner syndrome
4048:
4025:
3993:
3945:
3902:DNA replication
3896:
3890:DNA replication
3883:
3853:
3844:
3706:Other/ungrouped
3701:
3690:Port-wine stain
3671:
3632:
3622:
3541:
3464:
3206:
3197:
3150:
3099:
2984:
2972:
2926:
2908:
2857:
2834:
2816:
2803:
2773:
2768:
2767:
2697:
2696:
2629:
2608:
2603:
2602:
2594:
2592:
2585:
2584:
2580:
2571:
2569:
2559:
2555:
2546:
2544:
2534:
2530:
2521:
2519:
2510:
2509:
2505:
2495:
2493:
2480:
2479:
2475:
2467:
2463:
2454:
2452:
2442:
2438:
2429:
2427:
2417:
2413:
2404:
2402:
2391:
2387:
2380:
2364:
2360:
2315:
2306:
2296:
2294:
2272:
2268:
2259:
2257:
2249:
2248:
2244:
2235:
2233:
2223:
2219:
2210:
2208:
2199:
2198:
2194:
2185:
2183:
2174:
2173:
2169:
2162:
2148:
2144:
2096:
2092:
2042:
2038:
2007:
2003:
1972:
1968:
1929:
1925:
1888:
1884:
1839:
1835:
1790:
1786:
1747:
1743:
1698:
1694:
1687:
1673:
1669:
1662:
1646:
1642:
1635:
1619:
1610:
1563:
1556:
1549:
1533:
1526:
1516:
1514:
1505:
1504:
1485:
1475:
1473:
1464:
1463:
1450:
1403:
1396:
1387:
1385:
1376:
1375:
1356:
1346:
1344:
1336:
1335:
1328:
1318:
1316:
1307:
1306:
1277:
1272:
1225:
1216:
1149:Seize the Night
1107:aired in 1994,
1049:for a proposed
983:
968:
952:
927:when outdoors.
912:
814:Type F, VI, XPF
752:Type D, IV, XPD
696:Type B, II, XPB
633:
628:
501:
464:
413:solar keratoses
408:at an early age
371:
351:life expectancy
343:Retinoid creams
328:genetic testing
223:Life expectancy
207:retinoid creams
164:genetic testing
28:
23:
22:
15:
12:
11:
5:
4376:
4366:
4365:
4360:
4355:
4350:
4348:Genodermatoses
4345:
4340:
4323:
4322:
4314:
4311:
4310:
4308:
4307:
4302:
4297:
4292:
4287:
4282:
4277:
4275:Fanconi anemia
4272:
4267:
4262:
4257:
4252:
4246:
4244:
4240:
4239:
4237:
4236:
4231:
4225:
4223:
4217:
4216:
4213:
4212:
4210:
4209:
4204:
4199:
4193:
4191:
4185:
4184:
4182:
4181:
4176:
4174:Bloom syndrome
4171:
4165:
4163:
4154:
4148:
4147:
4140:
4139:
4132:
4125:
4117:
4108:
4107:
4104:
4103:
4101:
4100:
4095:
4090:
4088:Fanconi anemia
4085:
4084:
4083:
4074:
4069:
4067:Bloom syndrome
4056:
4054:
4050:
4049:
4047:
4046:
4041:
4035:
4033:
4027:
4026:
4024:
4023:
4018:
4013:
4007:
4005:
3995:
3994:
3992:
3991:
3989:IBIDS syndrome
3986:
3985:
3984:
3974:
3964:
3962:
3953:
3947:
3946:
3944:
3943:
3942:
3941:
3923:
3922:
3921:
3920:
3906:
3904:
3898:
3897:
3882:
3881:
3874:
3867:
3859:
3850:
3849:
3846:
3845:
3843:
3842:
3837:
3832:
3827:
3822:
3817:
3812:
3807:
3805:Poland anomaly
3802:
3797:
3792:
3790:Mongolian spot
3787:
3782:
3777:
3772:
3767:
3762:
3757:
3752:
3747:
3742:
3737:
3731:
3730:
3725:
3723:Branchial cyst
3720:
3715:
3709:
3707:
3703:
3702:
3700:
3699:
3698:
3697:
3687:
3681:
3679:
3673:
3672:
3670:
3669:
3664:
3659:
3654:
3649:
3643:
3641:
3634:
3628:
3627:
3624:
3623:
3597:
3596:
3591:
3590:
3589:
3580:
3568:
3567:
3566:
3553:
3551:
3547:
3546:
3543:
3542:
3540:
3539:
3534:
3529:
3524:
3519:
3514:
3508:
3507:
3505:Lelis syndrome
3502:
3497:
3496:
3495:
3483:
3478:
3476:Meleda disease
3472:
3470:
3466:
3465:
3463:
3462:
3461:
3460:
3451:
3439:
3438:
3437:
3425:
3418:
3417:
3412:
3407:
3402:
3397:
3392:
3387:
3377:
3376:
3375:
3374:
3369:
3364:
3363:
3362:
3357:
3347:
3342:
3337:
3328:
3326:Camisa disease
3323:
3322:
3321:
3316:
3304:
3299:
3294:
3293:
3292:
3290:Naxos syndrome
3280:
3275:
3274:
3273:
3268:
3263:
3247:
3246:
3244:Meleda disease
3241:
3236:
3231:
3221:
3219:
3210:
3203:Hyperkeratosis
3199:
3198:
3196:
3195:
3190:
3185:
3180:
3170:
3164:
3162:
3152:
3151:
3149:
3148:
3139:
3134:
3129:
3124:
3119:
3109:
3107:
3101:
3100:
3098:
3097:
3092:
3087:
3082:
3075:
3074:
3073:
3072:
3067:
3056:
3055:
3054:
3053:
3048:
3043:
3038:
3027:
3026:
3025:
3024:
3019:
3014:
3009:
3004:
2999:
2988:
2986:
2978:
2977:
2974:
2973:
2971:
2970:
2965:
2960:
2955:
2950:
2945:
2940:
2934:
2932:
2928:
2927:
2925:
2924:
2918:
2916:
2910:
2909:
2907:
2906:
2901:
2899:CHIME syndrome
2896:
2890:
2889:
2888:
2887:
2877:
2867:
2865:
2859:
2858:
2856:
2855:
2849:
2847:
2838:
2824:
2822:Genodermatosis
2818:
2817:
2802:
2801:
2794:
2787:
2779:
2770:
2769:
2766:
2765:
2754:
2743:
2732:
2718:
2706:
2705:
2703:
2699:
2698:
2695:
2694:
2683:
2672:
2661:
2646:
2630:
2625:
2624:
2622:
2621:Classification
2615:
2614:
2607:
2606:External links
2604:
2601:
2600:
2578:
2567:People's World
2553:
2528:
2503:
2473:
2469:2017 Interview
2461:
2436:
2411:
2385:
2378:
2358:
2304:
2266:
2242:
2217:
2192:
2167:
2160:
2142:
2090:
2036:
2017:(12): 1664–7.
2001:
1982:(11): 874–83.
1966:
1939:(24): 2886–8.
1923:
1896:Molecular Cell
1882:
1847:Human Mutation
1833:
1784:
1757:(1–2): 43–56.
1741:
1712:(7): 1168–79.
1692:
1685:
1667:
1660:
1640:
1633:
1608:
1554:
1547:
1524:
1483:
1448:
1394:
1354:
1326:
1274:
1273:
1271:
1268:
1267:
1266:
1261:
1256:
1251:
1246:
1241:
1239:Biogerontology
1236:
1231:
1224:
1221:
1215:
1212:
1180:genetic legacy
1169:The Moon Child
1155:Ride the Storm
1089:film starring
1037:, directed by
982:
979:
967:
964:
951:
948:
911:
908:
905:
904:
893:
890:
885:
880:
878:
872:
871:
868:
865:
857:
849:
844:
838:
837:
834:
833:16p13.3-p13.13
831:
826:
821:
816:
810:
809:
806:
803:
798:
793:
788:
786:Type E, V, XPE
782:
781:
778:
775:
767:
759:
754:
748:
747:
744:
741:
736:
731:
726:
720:
719:
716:
713:
708:
703:
698:
692:
691:
688:
685:
680:
675:
670:
668:Type A, I, XPA
664:
663:
660:
655:
652:
647:
642:
632:
629:
627:
624:
500:
497:
463:
460:
459:
458:
453:
450:
444:
441:
438:
437:(spider veins)
435:Telangiectasia
432:
426:
419:
409:
402:
370:
367:
248:
247:
231:
227:
226:
220:
214:
213:
203:
199:
198:
195:
191:
190:
173:
167:
166:
160:
154:
153:
143:
139:
138:
135:
131:
130:
127:
123:
122:
109:
103:
102:
91:
85:
84:
79:
73:
72:
64:
63:
55:
54:
39:
35:
34:
26:
9:
6:
4:
3:
2:
4375:
4364:
4363:Rare diseases
4361:
4359:
4356:
4354:
4351:
4349:
4346:
4344:
4341:
4339:
4336:
4335:
4333:
4320:
4319:
4312:
4306:
4303:
4301:
4300:BIDS syndrome
4298:
4296:
4293:
4291:
4288:
4286:
4283:
4281:
4278:
4276:
4273:
4271:
4268:
4266:
4263:
4261:
4258:
4256:
4253:
4251:
4248:
4247:
4245:
4241:
4235:
4232:
4230:
4227:
4226:
4224:
4222:
4218:
4208:
4205:
4203:
4200:
4198:
4195:
4194:
4192:
4190:
4186:
4180:
4177:
4175:
4172:
4170:
4167:
4166:
4164:
4162:
4158:
4155:
4153:
4149:
4145:
4138:
4133:
4131:
4126:
4124:
4119:
4118:
4115:
4099:
4096:
4094:
4091:
4089:
4086:
4082:
4078:
4075:
4073:
4070:
4068:
4065:
4064:
4063:
4062:
4061:RecQ helicase
4058:
4057:
4055:
4051:
4045:
4042:
4040:
4037:
4036:
4034:
4032:
4028:
4022:
4019:
4017:
4014:
4012:
4009:
4008:
4006:
4004:
4000:
3996:
3990:
3987:
3983:
3980:
3979:
3978:
3977:Thymine dimer
3975:
3973:
3969:
3966:
3965:
3963:
3961:
3957:
3954:
3952:
3948:
3940:
3937:
3936:
3935:
3934:
3929:
3925:
3924:
3919:
3916:
3915:
3914:
3913:
3908:
3907:
3905:
3903:
3899:
3895:
3891:
3887:
3880:
3875:
3873:
3868:
3866:
3861:
3860:
3857:
3841:
3838:
3836:
3833:
3831:
3828:
3826:
3823:
3821:
3818:
3816:
3813:
3811:
3808:
3806:
3803:
3801:
3798:
3796:
3793:
3791:
3788:
3786:
3783:
3781:
3778:
3776:
3773:
3771:
3768:
3766:
3763:
3761:
3758:
3756:
3753:
3751:
3748:
3746:
3743:
3741:
3738:
3736:
3733:
3732:
3729:
3726:
3724:
3721:
3719:
3716:
3714:
3711:
3710:
3708:
3704:
3696:
3693:
3692:
3691:
3688:
3686:
3683:
3682:
3680:
3678:
3674:
3668:
3665:
3663:
3660:
3658:
3655:
3653:
3652:Encephalocele
3650:
3648:
3645:
3644:
3642:
3638:
3635:
3631:Developmental
3629:
3621:
3620:
3619:
3614:
3613:
3608:
3607:
3603:
3595:
3594:Hailey–Hailey
3592:
3588:
3584:
3581:
3579:
3576:
3575:
3574:
3573:
3572:immune system
3569:
3565:
3562:
3561:
3560:
3559:
3555:
3554:
3552:
3548:
3538:
3535:
3533:
3530:
3528:
3525:
3523:
3520:
3518:
3515:
3513:
3510:
3509:
3506:
3503:
3501:
3498:
3494:
3491:
3490:
3489:
3488:
3484:
3482:
3479:
3477:
3474:
3473:
3471:
3467:
3459:
3455:
3452:
3450:
3447:
3446:
3445:
3444:
3440:
3436:
3433:
3432:
3431:
3430:
3426:
3424:
3420:
3419:
3416:
3413:
3411:
3408:
3406:
3403:
3401:
3398:
3396:
3393:
3391:
3388:
3386:
3382:
3379:
3378:
3373:
3370:
3368:
3365:
3361:
3358:
3356:
3353:
3352:
3351:
3348:
3346:
3343:
3341:
3338:
3336:
3332:
3329:
3327:
3324:
3320:
3317:
3315:
3312:
3311:
3310:
3309:
3305:
3303:
3300:
3298:
3295:
3291:
3288:
3287:
3286:
3285:
3281:
3279:
3276:
3272:
3269:
3267:
3264:
3262:
3259:
3258:
3257:
3256:
3252:
3251:
3249:
3248:
3245:
3242:
3240:
3237:
3235:
3232:
3230:
3226:
3223:
3222:
3220:
3218:
3214:
3211:
3209:
3208:keratinopathy
3204:
3200:
3194:
3191:
3189:
3186:
3184:
3181:
3178:
3174:
3171:
3169:
3166:
3165:
3163:
3161:
3157:
3153:
3147:
3143:
3140:
3138:
3135:
3133:
3130:
3128:
3125:
3123:
3120:
3118:
3114:
3111:
3110:
3108:
3106:
3102:
3096:
3093:
3091:
3088:
3086:
3083:
3081:
3077:
3076:
3071:
3068:
3066:
3063:
3062:
3061:
3058:
3057:
3052:
3049:
3047:
3044:
3042:
3039:
3037:
3034:
3033:
3032:
3029:
3028:
3023:
3020:
3018:
3015:
3013:
3010:
3008:
3005:
3003:
3000:
2998:
2995:
2994:
2993:
2990:
2989:
2987:
2983:
2979:
2969:
2966:
2964:
2961:
2959:
2956:
2954:
2951:
2949:
2946:
2944:
2941:
2939:
2936:
2935:
2933:
2929:
2923:
2920:
2919:
2917:
2915:
2911:
2905:
2902:
2900:
2897:
2895:
2892:
2891:
2886:
2883:
2882:
2881:
2878:
2876:
2872:
2869:
2868:
2866:
2864:
2860:
2854:
2851:
2850:
2848:
2846:
2842:
2839:
2837:
2832:
2828:
2825:
2823:
2819:
2815:
2811:
2807:
2800:
2795:
2793:
2788:
2786:
2781:
2780:
2777:
2764:
2760:
2759:
2755:
2753:
2749:
2748:
2744:
2742:
2738:
2737:
2733:
2731:
2728:
2724:
2723:
2719:
2717:
2713:
2712:
2708:
2707:
2704:
2700:
2693:
2689:
2688:
2684:
2682:
2678:
2677:
2673:
2671:
2667:
2666:
2662:
2660:
2656:
2655:
2651:
2647:
2645:
2641:
2640:
2636:
2632:
2631:
2628:
2623:
2619:
2613:
2610:
2609:
2590:
2589:
2582:
2568:
2564:
2557:
2543:
2539:
2532:
2518:on 2018-06-29
2517:
2513:
2507:
2491:
2487:
2483:
2477:
2470:
2465:
2451:
2447:
2440:
2426:
2422:
2415:
2400:
2399:Baltimore Sun
2396:
2389:
2381:
2379:9781444357394
2375:
2371:
2370:
2362:
2354:
2350:
2345:
2340:
2336:
2332:
2328:
2324:
2320:
2313:
2311:
2309:
2293:
2289:
2285:
2281:
2277:
2270:
2256:
2252:
2246:
2232:
2228:
2221:
2207:on 2020-10-20
2206:
2202:
2196:
2181:
2177:
2171:
2163:
2157:
2153:
2146:
2138:
2134:
2129:
2124:
2119:
2114:
2110:
2106:
2105:PLOS Genetics
2102:
2094:
2086:
2082:
2078:
2074:
2069:
2064:
2060:
2056:
2053:(5): 811–22.
2052:
2048:
2040:
2032:
2028:
2024:
2020:
2016:
2012:
2005:
1997:
1993:
1989:
1985:
1981:
1977:
1970:
1962:
1958:
1954:
1950:
1946:
1942:
1938:
1934:
1927:
1919:
1915:
1910:
1905:
1902:(2): 223–32.
1901:
1897:
1893:
1886:
1878:
1874:
1870:
1866:
1861:
1856:
1852:
1848:
1844:
1837:
1829:
1825:
1820:
1815:
1811:
1807:
1803:
1799:
1795:
1788:
1780:
1776:
1772:
1768:
1764:
1760:
1756:
1752:
1745:
1737:
1733:
1728:
1723:
1719:
1715:
1711:
1707:
1703:
1696:
1688:
1682:
1678:
1671:
1663:
1661:9781118292402
1657:
1653:
1652:
1644:
1636:
1634:9781118441190
1630:
1626:
1625:
1617:
1615:
1613:
1604:
1600:
1595:
1590:
1585:
1580:
1576:
1572:
1568:
1561:
1559:
1550:
1548:9780387095998
1544:
1540:
1539:
1531:
1529:
1512:
1508:
1502:
1500:
1498:
1496:
1494:
1492:
1490:
1488:
1471:
1467:
1461:
1459:
1457:
1455:
1453:
1444:
1440:
1435:
1430:
1425:
1420:
1416:
1412:
1411:Cases Journal
1408:
1401:
1399:
1384:on 2022-10-26
1383:
1379:
1373:
1371:
1369:
1367:
1365:
1363:
1361:
1359:
1343:
1342:dermnetnz.org
1339:
1333:
1331:
1314:
1310:
1304:
1302:
1300:
1298:
1296:
1294:
1292:
1290:
1288:
1286:
1284:
1282:
1280:
1275:
1265:
1262:
1260:
1257:
1255:
1252:
1250:
1247:
1245:
1242:
1240:
1237:
1235:
1232:
1230:
1227:
1226:
1220:
1211:
1208:
1207:
1202:
1200:
1199:
1194:
1193:
1187:
1185:
1181:
1177:
1172:
1170:
1167:
1164:
1159:
1157:
1156:
1151:
1150:
1145:
1144:
1139:
1138:
1134:
1133:Dean Koontz's
1129:
1127:
1123:
1120:
1116:
1112:
1110:
1106:
1103:
1098:
1096:
1092:
1091:Nicole Kidman
1088:
1084:
1083:
1078:
1076:
1072:
1068:
1067:
1062:
1060:
1056:
1053:series named
1052:
1048:
1044:
1040:
1036:
1032:
1028:
1024:
1023:Joan Crawford
1020:
1019:
1015:
1010:
1008:
1007:
1001:
998:
996:
992:
988:
978:
975:
973:
972:Moritz Kaposi
963:
959:
957:
956:United States
947:
945:
940:
938:
934:
930:
926:
916:
902:
898:
894:
891:
889:
886:
884:
881:
879:
877:
874:
873:
869:
866:
864:
861:
858:
856:
853:
850:
848:
845:
843:
840:
839:
835:
832:
830:
827:
825:
822:
820:
817:
815:
812:
811:
807:
804:
802:
799:
797:
794:
792:
789:
787:
784:
783:
779:
776:
774:
771:
768:
766:
763:
760:
758:
755:
753:
750:
749:
745:
742:
740:
737:
735:
732:
730:
727:
725:
722:
721:
717:
714:
712:
709:
707:
704:
702:
699:
697:
694:
693:
689:
686:
684:
681:
679:
676:
674:
671:
669:
666:
665:
661:
659:
656:
653:
651:
648:
646:
643:
640:
639:
636:
623:
621:
619:
612:
609:
605:
601:
596:
594:
590:
586:
582:
577:
575:
571:
567:
563:
559:
554:
552:
548:
544:
539:
537:
533:
529:
525:
521:
516:
514:
510:
506:
496:
493:
487:
483:
481:
473:
468:
457:
454:
451:
448:
445:
442:
439:
436:
433:
430:
427:
424:
420:
418:
414:
410:
407:
403:
400:
396:
395:
394:
388:
383:
375:
366:
364:
360:
359:Moritz Kaposi
354:
352:
348:
344:
340:
336:
331:
329:
325:
321:
317:
313:
309:
304:
302:
301:brain cancers
298:
294:
290:
286:
282:
278:
274:
270:
266:
262:
258:
254:
245:
242:
239:
236:
232:
228:
224:
221:
219:
215:
212:
208:
204:
200:
196:
192:
189:
185:
181:
177:
174:
172:
168:
165:
161:
159:
155:
151:
147:
144:
140:
136:
132:
128:
124:
121:
117:
113:
110:
108:
107:Complications
104:
100:
96:
92:
90:
86:
83:
80:
78:
74:
70:
65:
61:
56:
52:
49:
46:
43:
40:
36:
31:
19:
4315:
4201:
4059:
3981:
3931:
3926:Termination/
3910:
3657:Nasal glioma
3647:Dermoid cyst
3616:
3610:
3599:
3598:
3583:Mastocytosis
3570:
3564:EEM syndrome
3556:
3485:
3441:
3427:
3306:
3282:
3253:
2814:skin disease
2756:
2745:
2734:
2720:
2709:
2685:
2674:
2663:
2648:
2633:
2593:, retrieved
2587:
2581:
2570:. Retrieved
2566:
2556:
2545:. Retrieved
2541:
2531:
2520:. Retrieved
2516:the original
2506:
2494:. Retrieved
2490:the original
2485:
2476:
2464:
2453:. Retrieved
2439:
2428:. Retrieved
2414:
2403:. Retrieved
2398:
2388:
2368:
2361:
2329:(2): 452–9.
2326:
2322:
2295:. Retrieved
2283:
2279:
2269:
2258:. Retrieved
2254:
2245:
2234:. Retrieved
2230:
2220:
2209:. Retrieved
2205:the original
2195:
2184:. Retrieved
2179:
2170:
2154:. Elsevier.
2151:
2145:
2108:
2104:
2093:
2050:
2046:
2039:
2014:
2010:
2004:
1979:
1975:
1969:
1936:
1932:
1926:
1899:
1895:
1885:
1850:
1846:
1836:
1801:
1797:
1787:
1754:
1750:
1744:
1709:
1705:
1695:
1676:
1670:
1650:
1643:
1623:
1574:
1570:
1537:
1515:. Retrieved
1510:
1474:. Retrieved
1469:
1414:
1410:
1386:. Retrieved
1382:the original
1345:. Retrieved
1341:
1317:. Retrieved
1312:
1217:
1204:
1203:
1196:
1190:
1188:
1175:
1173:
1168:
1160:
1153:
1147:
1143:Fear Nothing
1141:
1135:
1130:
1121:
1113:
1108:
1099:
1080:
1079:
1064:
1063:
1059:skin disease
1054:
1016:
1011:
1004:
1002:
999:
994:
990:
986:
984:
976:
969:
960:
953:
941:
937:fluorouracil
921:
875:
841:
813:
785:
751:
723:
695:
667:
634:
615:
613:
608:endonuclease
597:
578:
565:
555:
540:
531:
517:
502:
488:
484:
477:
417:skin cancers
392:
387:epitheliomas
362:
355:
332:
305:
285:hearing loss
256:
252:
251:
243:
240:
237:
234:
116:brain cancer
50:
47:
44:
4031:MRN complex
3820:Skin dimple
3429:desmoplakin
3421:ungrouped:
3308:Cathepsin C
3284:plakoglobin
2985:and related
2747:GeneReviews
2711:MedlinePlus
2486:Dean Koontz
2180:India Today
1804:: 123–135.
1378:"Not found"
1347:25 February
1259:Photophobia
1039:Robert Gist
1035:Diane Baker
1021:, starring
933:cryotherapy
876:Type V, XPV
425:and clouded
293:skin cancer
269:ultraviolet
126:Usual onset
112:Skin cancer
38:Other names
4332:Categories
4316:See also:
4152:DNA repair
3951:DNA repair
3928:telomerase
3250:syndromic
3173:Cutis laxa
3160:Connective
2810:integument
2806:Congenital
2736:Patient UK
2687:DiseasesDB
2595:2021-08-09
2572:2018-06-29
2547:2018-06-29
2522:2018-06-29
2455:2017-09-14
2430:2017-09-14
2405:2018-07-08
2286:(2): 241.
2260:2020-09-24
2236:2020-09-24
2211:2020-09-24
2186:2020-07-05
1976:DNA Repair
1933:Cell Cycle
1798:DNA Repair
1706:DNA Repair
1417:(1): 254.
1388:2023-03-06
1270:References
1264:Senescence
1176:Sun Kissed
1166:drama film
1082:The Others
1071:drama film
1027:Paul Burke
1014:drama film
892:6p21.1-p12
591:-based E3
566:XPD(ERCC2)
532:XPB(ERCC3)
513:DNA damage
509:DNA repair
449:(dry skin)
443:Scaly skin
429:Blistering
320:skin cells
265:DNA damage
194:Prevention
4221:Lamin A/C
3840:Birthmark
3633:anomalies
3600:see also
3078:related:
2931:Ungrouped
2730:neuro/399
2722:eMedicine
2496:24 August
2068:1765/3110
1161:The 2011
1075:Brad Pitt
1055:Royal Bay
950:Prognosis
929:Keratosis
925:sunscreen
910:Treatment
805:11p12-p11
626:Diagnosis
598:The XPF (
593:ubiquitin
556:The XPD (
528:Mutations
447:Xeroderma
423:bloodshot
347:Vitamin D
339:sunscreen
312:mutations
297:cataracts
277:freckling
230:Frequency
218:Prognosis
211:vitamin D
202:Treatment
120:cataracts
99:freckling
77:Specialty
69:Guatemala
3912:RNASEH2A
3558:cadherin
3443:connexin
3381:punctate
3255:connexin
2758:Orphanet
2727:derm/462
2536:Ziff D.
2353:25220021
2137:25299392
2085:12957716
2031:21959250
1996:23046824
1961:43682426
1953:17172862
1877:22852219
1869:16947863
1828:27247238
1779:15748637
1736:18495558
1603:22044607
1443:18937855
1223:See also
1126:leukemia
944:Scenesse
462:Genetics
406:freckles
289:seizures
281:dry skin
137:Lifelong
134:Duration
89:Symptoms
3640:Midline
3225:diffuse
3156:Elastic
2681:D014983
2450:Variety
2344:4355260
2297:21 June
2128:4191938
2077:8797827
1918:9734359
1819:4958585
1759:Bibcode
1727:2797313
1594:3221642
1517:28 June
1476:28 June
1434:2577106
1319:28 June
1182:of the
981:Culture
966:History
954:In the
901:S-phase
530:in the
415:), and
399:sunburn
397:Severe
310:, with
273:sunburn
259:) is a
95:sunburn
93:Severe
3487:ATP2A2
3051:JEB-PA
3022:EBS-MP
3017:EBS-MD
3012:EBS-OG
3007:EBS-DM
3002:EBS-WC
2716:001467
2670:278700
2659:757.33
2376:
2351:
2341:
2158:
2135:
2125:
2083:
2075:
2029:
1994:
1959:
1951:
1916:
1875:
1867:
1826:
1816:
1777:
1734:
1724:
1683:
1658:
1631:
1601:
1591:
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1545:
1472:. 2017
1441:
1431:
1163:French
993:, and
883:278750
855:133530
852:278780
824:278760
796:278740
765:278800
762:278730
734:278720
706:133510
687:9q22.3
678:278700
587:- and
547:RAD23B
306:XP is
142:Causes
4053:Other
3677:Nevus
3550:Other
3469:Other
3331:focal
3041:Mitis
3036:JEB-H
2997:EBS-K
2692:14198
2644:Q82.1
2081:S2CID
1957:S2CID
1873:S2CID
1045:as a
1018:Della
867:13q33
863:ERCC5
847:29883
829:ERCC4
819:29882
791:29881
773:ERCC6
757:29880
729:29879
701:29878
673:29877
658:Locus
631:Types
618:ERCC5
616:XPG (
604:ERCC1
600:ERCC4
589:CUL4B
585:CUL4A
562:TFIIH
558:ERCC2
3933:DKC1
3892:and
3070:RDEB
3065:DDEB
2676:MeSH
2665:OMIM
2654:9-CM
2498:2018
2374:ISBN
2349:PMID
2299:2020
2156:ISBN
2133:PMID
2073:PMID
2047:Cell
2027:PMID
1992:PMID
1949:PMID
1914:PMID
1865:PMID
1824:PMID
1775:PMID
1732:PMID
1681:ISBN
1656:ISBN
1629:ISBN
1599:PMID
1543:ISBN
1519:2018
1478:2018
1439:PMID
1349:2020
1321:2018
1146:and
1033:and
888:POLH
860:RAD2
801:DDB2
743:3p25
715:2q21
654:Gene
650:OMIM
641:Type
581:DDB1
541:The
518:The
503:The
3999:MSI
3458:KID
3454:HID
3217:PPK
3060:DEB
3031:JEB
2992:EBS
2763:910
2650:ICD
2635:ICD
2339:PMC
2331:doi
2288:doi
2284:123
2231:FDA
2123:PMC
2113:doi
2063:hdl
2055:doi
2019:doi
1984:doi
1941:doi
1904:doi
1855:doi
1814:PMC
1806:doi
1767:doi
1755:571
1722:PMC
1714:doi
1589:PMC
1579:doi
1429:PMC
1419:doi
1117:'s
1102:CBS
1051:NBC
935:or
770:XPD
739:XPC
711:XPB
683:XPA
576:).
543:XPC
524:DNA
520:XPB
505:XPA
492:p53
335:sun
316:DNA
4334::
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3609:,
3604:,
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