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• W2048768178 abstract "An 8-year-old girl presented with hundreds of milia, measuring 1 to 2 mm; comedone-like lesions; skin-colored and hyperpigmented papules on the face, scalp, ears, neck, upper trunk, and lower arms along with diffuse scalp hypotrichosis; and pinpoint palm/sole pits. Onset was in early childhood and the disease was historically present in 6 generations.Our objectives were to delineate the clinical and histopathologic features and mode of inheritance as a base for gene studies.Eighteen family subjects were studied. Twenty-six skin biopsy specimens were examined. A detailed pedigree was constructed. A complete literature search was done concerning diseases with generalized basaloid follicular hamartomas.The lesions were basaloid follicular hamartomas and other folliculocentric abnormalities. Inheritance was autosomal dominant. Extensive literature search confirmed the finding of a unique genodermatosis.A new genodermatosis termed dominantly inherited generalized basaloid follicular hamartoma syndrome was defined by delineating its clinical and histopathologic features and mode of inheritance and by extensive literature review." @default.
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• W2048768178 date "2000-08-01" @default.
• W2048768178 modified "2023-10-01" @default.
• W2048768178 title "Autosomal dominantly inherited generalized basaloid follicular hamartoma syndrome: Report of a new disease in a North Carolina family" @default.
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• W2048768178 doi "https://doi.org/10.1067/mjd.2000.108018" @default.
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