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Keratotic Papules (keratotic + papule)
Selected AbstractsMultiple Keratotic Papules and Skeletal AnomaliesPEDIATRIC DERMATOLOGY, Issue 4 2007Balvinder Brar M.D. No abstract is available for this article. [source] Clinical and histological spectrum of elastotic changes induced by penicillamineAUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 2 2002Eric Poon SUMMARY A 79-year-old-man with cystinuria requiring long-term penicillamine therapy presented with a 6-month history of itchy annular lesions in both axillae. Clinical examination revealed lesions consisting of crusted keratotic papules coalescing in an annular distribution. Associated findings included generalized skin laxity accentuated on the upper trunk and arms, as well as small yellowish papules on the neck. Histological evaluation revealed short, thick, eosinophilic elastic fibres with nodular protrusions. Transepidermal elimination of abnormal elastic fibres was also evident. We discuss the histological and clinical spectrum of penicillamine-induced elastotic changes and compare these changes to those seen in primary elastotic disorders. [source] A Japanese case of segmental Darier's disease caused by mosaicism for the ATP2A2 mutationBRITISH JOURNAL OF DERMATOLOGY, Issue 1 2003T. Wada Summary Darier's disease is an autosomal dominant skin disorder that is characterized by multiple keratotic papules, focal loss of adhesion and abnormal keratinization. Mutations in the ATP2A2 gene encoding sarco/endoplasmic reticulum calcium pumping ATPase type 2 have been identified as the molecular basis of Darier's disease. Segmental Darier's disease is a rare type of Darier's disease in which there is characteristic localization of the keratotic papules in a linear pattern following Blaschko's lines. In this study we examined ATP2A2 mutations in a Japanese patient with segmental Darier's disease. The samples from affected skin, unaffected skin and peripheral leucocytes were subjected to polymerase chain reaction (PCR). Direct sequencing of the PCR products was performed. Sequence analysis revealed that the patient had 160A,G substitution mutation which predicts I54V. This novel mutation was present in the affected skin, but not in the unaffected skin or peripheral leucocytes. This is the first report of segmental Darier's disease caused by mosaicism for an ATP2A2 mutation in Japan. [source] |