Autosomal dominantly inherited generalized basaloid follicular hamartoma syndrome: Report of a new disease in a North Carolina family

Background: An 8-year-old girl presented with hundreds of milia, measuring 1 to 2 mm; comedone-like lesions; skin-colored and hyperpigmented papules o n the face, scalp, ears, neck, upper trunk, and lower arms along with diffu se scalp hypotrichosis; and pinpoint palm/sole pits. Onset was in early chi ldhood and the disease was historically present in 6 generations. Objective: Our objectives were to delineate the clinical and histopathologi c features and mode of inheritance as a base for gene studies. Methods: Eighteen family subjects were studied. Twenty-six skin biopsy spec imens were examined. A detailed pedigree was constructed. A complete litera ture search was done concerning diseases with generalized basaloid follicul ar hamartomas. Results: The lesions were basaloid follicular hamartomas and other follicul ocentric abnormalities. Inheritance was autosomal dominant. Extensive liter ature search confirmed the finding of a unique genodermatosis. Conclusion: A new genodermatosis termed dominantly inherited generalized ba saloid follicular hamartoma syndrome was defined by delineating its clinica l and histopathologic features and mode of inheritance and by extensive lit erature review.