Xeroderma Pigmentosum in a Negress

King, Howard D.; Hamilton, C. M.

doi:10.1001/archderm.1940.01490160030005

Cited by 14 publications

(4 citation statements)

References 3 publications

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“…This severe phenotype is not commonly observed. XP was described in a black African in 1938 ( Loewenthal and Trowell 1938 ) ( Figure 1C ) and in an American black in 1940 ( King and Hamilton 1940 ).…”

Section: History Of Xeroderma Pigmentosummentioning

confidence: 99%

Shining a Light on Xeroderma Pigmentosum

DiGiovanna

Kraemer

2012

Journal of Investigative Dermatology

438

503

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Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair characterized by sun sensitivity and ultraviolet (UV) induced skin and mucous membrane cancers. Described in 1874 by Moriz Kaposi in Vienna, nearly 100 years later James Cleaver in San Francisco reported defective DNA repair in XP cells. This eventually provided the basis for a mechanistic link between sun exposure, DNA damage, somatic mutations and skin cancer. XP cells were found to have defects in 7 of the proteins of the nucleotide excision repair pathway and in DNA polymerase eta. XP cells are hypersensitive to killing by UV and XP cancers have characteristic “UV signature” mutations. Clinical studies at NIH found a nearly 10,000-fold increase in skin cancer in XP patients under age 20 years demonstrating the substantial importance of DNA repair in cancer prevention in the general population. About 25 % of XP patients have progressive neurological degeneration with progressive loss of neurons, probably from DNA damage induced by oxidative metabolism which kills non-dividing cells in the nervous system. Interestingly, patients with another disorder, trichothiodystrophy have defects in some of the same genes as XP but they have primary developmental abnormalities without an increase in skin cancer.

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Section: History Of Xeroderma Pigmentosummentioning

confidence: 99%

Shining a Light on Xeroderma Pigmentosum

DiGiovanna

Kraemer

2012

Journal of Investigative Dermatology

438

503

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“…The first case report of XP in the US was in 1878 by Taylor [11], followed by the first case reported in an African American in 1940 by King and Hamilton [12]. The ocular manifestations of XP patients was nicely reviewed by Reese and Wilber [13 ]in 1943, prior to our current understanding of the molecular pathogenesis.…”

Section: Discussionmentioning

confidence: 99%

Clinicopathological Features of Ophthalmic Neoplasms Arising in the Setting of Xeroderma Pigmentosum

et al. 2015

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Background: Patients with xeroderma pigmentosum (XP) are strongly predisposed to the development of numerous cutaneous cancers. However, the extent of ocular pathology in these patients has not been adequately studied. Methods: We conducted a retrospective study of tumors involving the ocular surface and ocular adnexa from 6 XP patients. Histopathological evaluation and immunohistochemistry was performed using antibodies directed against the most common mutated proteins in XP (XPA, XPC, and XPD). Results: Patients included 4 males and 2 females with a mean age of 20.8 years (range 10-31) who met the clinical criteria for XP and were found to have a total of 13 neoplasms involving the ocular surface and adnexal skin; 6 squamous cell carcinomas (SCC), 3 cases of conjunctival intraepithelial neoplasia, 2 malignant melanomas, 1 basal cell carcinoma, and 1 atypical fibroxanthoma. Complete XPD loss was present in two tumors from 1 patient, suggesting a germline defect, and in the invasive component of an SCC from a second patient, suggesting a somatic alteration. No clear pattern of loss for XPA or XPC was evident. Conclusions: Our study outlines our early experience with the pathology of ocular neoplasms in XP patients. These findings deserve further exploration with genetic studies and additional patients.

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“…However, it is reported to be extremely rare in Australia (Pad 1933). In negroes, the disease has been described only in five cases, including three in members of one family (Loewenthal and Trowell 1938, King and Hamilton 1940, Targowsky and Loewenthal 1956. One case in a negro (Hopkins and wan Studdiford 1934), in which skin biopsy and autopsy were performed, is considered by most authors actually to be one of arsenicprovoked dermatosis.…”

Section: Discussionmentioning

confidence: 99%

Xeroderma Pigmentosum Observed in a Greenlander

1962

Acta Ophthalmologica

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Xeroderma Pigmentosum in a Negress

Cited by 14 publications

References 3 publications

Shining a Light on Xeroderma Pigmentosum

Shining a Light on Xeroderma Pigmentosum

Clinicopathological Features of Ophthalmic Neoplasms Arising in the Setting of Xeroderma Pigmentosum

Xeroderma Pigmentosum Observed in a Greenlander

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