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Updated: Jul 25, 2026
Cell Population Analyses During Skin Carcinogenesis
Published on: August 21, 2013
Autosomal dominantly inherited generalized basaloid follicular hamartoma syndrome: report of a new disease in a North
C E Wheeler1, M A Carroll, P A Groben
1Departments of Dermatology and Pathology, University of North Carolina School of Medicine, Chapel Hill 27599-7287, USA. mjowebb@med.unc.edu
Background:
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.
Objective:
Our objectives were to delineate the clinical and histopathologic features and mode of inheritance as a base for gene studies.
Methods:
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.
Results:
The lesions were basaloid follicular hamartomas and other folliculocentric abnormalities. Inheritance was autosomal dominant. Extensive literature search confirmed the finding of a unique genodermatosis.
Conclusion:
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.
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