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M Ramesh Bhat
Department of Skin and STD, Fr. Muller's Medical College, Kankanady, Mangalore-575 002
|How to cite this article:
Bhat M R, Cherian S, Shetty J N. Pigmented xerodermoid. Indian J Dermatol Venereol Leprol 2002;68:103
AbstractAn 18- year-old female who presented with features suggestive of pigmented xerodermoid is reported.
Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by photosensitivity, pigmentary changes, premature skin ageing, neoplasia and abnormal DNA repair. Some patients with xeroderma pigmentosum have in addition, neurological complications. Many cases of pigmented xerodermoid have been reported under the diagnosis of xeroderma pigmentosum of late onset and this does indeed describe the clinical features. The onset may be delayed till the third or fourth decade. In pigmented xerodermoid,repair replication is normal, but there is total depression of DNA synthesis after exposure to UV radiation.
An 18-year-old female presented with asymptomatic, blackish discolouration of the face, neck and forearms of six years duration. Initially the lesions were on the forehead and nose which spread on to the cheeks, neck and forearms in two years time. There was history of photosensitivity and photophobia and history of remission and exacerbations.
There was no history of consanguinity and none in family had similar disease. Clinical examination revealed hyperpigmented macules 24 mm in size, over the face, neck and extensor aspect of the forearms. There were areas of achromia interspersed with areas of hyperpigmentation. Ocular examination was normal. Skin biopsy taken from the lesion showed hyperkeratosis and thinned epidermis along with melanin incontinence. Patient was treated with sunscreen, glycolic acid 10% topically and antioxidants orally. [Figure - 1]
Xeroderma pigmentosum has atleast eight subtypes that are recognized, designated complimentation groups A - G and X P variant. Pigmented xerodermoid is xeroderma pigmentosum of late onset, usually in the third or fourth decade. In these patients repair replication is normal, but there is almost total depression of DNA synthesis after exposure to UV radiation. In this case the history and clinical features were suggestive of xeroderma pigmentosum of late onset i.e. pigmented xerodermoid.
Powsey SA, Magners IA, Ramsay, et al. Clinical genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum. Q J Med 1979;48:179-210.[Google Scholar]
Harper JL. Genetics genodermatoses. In Rook/Wilkinson/Ebling Textbook of Dermatology, Edited by Champion RH, Burton JL, Burns DA and Breathnoch SM, 6th Edn, Blackwell Science Publishers. Oxford 1998:407-412.[Google Scholar]