Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant
Clinical Features
Wheeler et al. (2000) described an 8-year-old girl who presented with hundreds of milia; 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 by history present in 6 generations. Wheeler et al. (2000) characterized 18 family members by physical exam and biopsy. The lesions were basaloid follicular hamartomas and other folliculocentric abnormalities. Wheeler et al. (2000) suggested that this unique genodermatosis be referred to as 'dominantly inherited generalized basaloid follicular hamartoma syndrome,' or GBFHS.
InheritanceThe transmission pattern of generalized basaloid follicular hamartoma syndrome in the family reported by Wheeler et al. (2000) was consistent with autosomal dominant inheritance.