Journal ArticleDOI
Incidence of xeroderma pigmentosum in Larkana, Pakistan: a 7-year study.
A.M. Bhutto,A. Shaikh,S. Nonaka +2 more
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The large number of XP patients seen in those with skin type III (Brohi tribe) compared withskin type IV (Sindhi population) indicates that the skin type and the race has a considerable value in the pathogenesis of XP.Abstract:
Xeroderma pigmentosum (XP) is a rare autosomal recessive inherited disorder caused by a defect in the normal repair of DNA of various cutaneous cell types damaged by exposure to ultraviolet radiation We present our 7-year experience with 36 XP patients who either visited the Department of Dermatology or were seen in the medical camps arranged in remote areas for patients' welfare, from 1995 to 2001 For ease of discussion we classified all cases into the following subgroups on clinical grounds only: mild, those with light brown freckles on the face alone; moderate, those with dark brown freckles with burning on the face, neck, ears, chest, hands and photophobia but without other associated obvious cutaneous and ocular changes; severe, those with extensive dark brown freckles with burning on the exposed parts as well as on the unexposed parts of the body, ie the chest, back, abdomen and arms including other associated cutaneous and ocular changes such as ulcers and malignancy Of 36 patients, three (83%) were classified as mild, nine (25%) moderate and 24 (667%) severe; there were 18 males and 18 females, age range 2-30 years (mean 89 years) Seventeen patients had cutaneous changes: actinic keratosis, keratoacanthoma, fissures and ulcerative nodules on the exposed parts of the body Four patients had wide ulcers, along with mass formation and severe pigmentation on the face, neck and head Twenty-nine patients developed ocular symptoms: photophobia, conjunctivitis, corneal keratitis and lid ulcer One patient had complete loss of vision Histopathological findings revealed that six patients had squamous cell carcinoma (SCC) on the face, head, ear or lip More than one sibling (two to four) was affected in four families The majority of cases (20/36, 556%) were from the Brohi tribe (skin type III), while the remaining cases (16/36, 444%) were from the Sindhi population (skin type IV) The large number of XP patients seen in those with skin type III (Brohi tribe) compared with skin type IV (Sindhi population) indicates that the skin type and the race has a considerable value in the pathogenesis of XP Furthermore, 24 of 36 patients were in the severe group and six of these had SCC Moreover, no neurological abnormalities were observed in our patients All patients were treated according to disease severity by prescribing oral antibiotics, local steroids, sunscreens and/or chemotherapy followed by irradiation in malignant cases Two patients died because of extensive SCCread more
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Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.
Wim J. Kleijer,Vincent Laugel,Mark Berneburg,Tiziana Nardo,Heather Fawcett,Alexei Gratchev,Nicolaas G. J. Jaspers,Alain Sarasin,Miria Stefanini,Alan R. Lehmann +9 more
TL;DR: The combined data from the DNA repair diagnostic centres in France, (West) Germany, Italy, the Netherlands and the United Kingdom have been investigated for three groups of diseases: XP (including XP-variant), CS ( including XP/CS complex) and TTD.
Journal ArticleDOI
Xeroderma pigmentosum: a review and case series
TL;DR: This work presents five cases of XP, a condition inherited as an autosomal recessive trait and characterized by photosensitivity, pigmentary changes, premature skin ageing and malignant tumour development resulting from the defect in DNA repair.
Journal ArticleDOI
Multiple cutaneous squamous cell carcinomas in a patient with interferon γ receptor 2 (IFNγR2) deficiency
Hidemi Toyoda,Masaru Ido,Kyoichi Nakanishi,Takashi Nakano,Hitoshi Kamiya,Akihiko Matsumine,Atsumasa Uchida,Hitoshi Mizutani,Ludovic de Beaucoudrey,Guillaume Vogt,Stéphanie Boisson-Dupuis,Jacinta Bustamante,Jean-Laurent Casanova,Yoshihiro Komada +13 more
TL;DR: In this article, a disseminated, cutaneous SCC was described that occurred in a patient homozygous for a novel frameshift deletion at positions 949 and 950 (949delTG) in the IFNGR2 gene.
Journal ArticleDOI
Xeroderma Pigmentosum: A Retrospective Case Series in Zimbabwe
TL;DR: Xeroderma pigmentosum is uncommon in the black population, and presents in the severe form with SCC as the malignant skin, lip, and tongue lesion.
Journal ArticleDOI
Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C
Smail Hadj-Rabia,Smail Hadj-Rabia,Denis Oriot,Nadem Soufir,Nadem Soufir,H. Dufresne,H. Dufresne,Emmanuelle Bourrat,S. Mallet,N. Poulhalon,E. Ezzedine,Bernard Grandchamp,Alain Taïeb,B. Catteau,Alain Sarasin,Christine Bodemer,Christine Bodemer +16 more
TL;DR: Background Xeroderma pigmentosum type C (XP‐C) is a rare, autosomal, recessive condition characterized by the association of various clinical manifestations mostly involving the skin and eyes.
References
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Journal ArticleDOI
Xeroderma Pigmentosum: Cutaneous, Ocular, and Neurologic Abnormalities in 830 Published Cases
TL;DR: Quantitative frequencies of clinical abnormalities in xeroderma pigmentosum were estimated by abstracting published descriptions of 830 patients in 297 articles obtained from a survey of the medical literature from 1874 to 1982, finding scant information concerning the efficacy of any therapeutic regimen.
Journal ArticleDOI
Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.
Journal ArticleDOI
The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm.
TL;DR: Analysis of reports of 132 patients with xeroderma pigmentosum (XP), an inherited cancer-prone, DNA repair-deficient disorder with marked clinical and laboratory UV hypersensitivity, suggests that DNA repair plays a major role in the prevention of cutaneous cancers in the general population and sunlight exposure is responsible for the induction of melanoma.
Journal Article
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.
G. A. Greenhaw,Adelaide A. Hebert,M. E. Duke-Woodside,Ian J. Butler,Jacqueline T. Hecht,J. E. Cleaver,G. H. Thomas,William A. Horton +7 more
TL;DR: Two siblings are described whose clinical presentation of cutaneous photosensitivity and central nervous system dysfunction is strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma pigmentosum, and who clinically have XP, but their biochemical characteristics suggest CS.