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 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 chi...

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Bibliographic Details
Published in:Journal of the American Academy of Dermatology 2000-08, Vol.43 (2), p.189-206
Main Authors: Wheeler, Clayton E., Carroll, M.Amanda, Groben, Pamela A., Briggaman, Robert A., Prose, Neil S., Davis, David A.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Child
Child, Preschool
Dermatology
Female
Genes, Dominant
Hamartoma - genetics
Hamartoma - pathology
Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue
Humans
Male
Medical sciences
Middle Aged
North Carolina
Pedigree
Phenotype
Skin Diseases - genetics
Skin Diseases - pathology
Skin Diseases, Vesiculobullous - genetics
Skin Diseases, Vesiculobullous - pathology
Syndrome
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Summary: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. (J Am Acad Dermatol 2000;43:189-206.)
ISSN:0190-9622
1097-6787
DOI:10.1067/mjd.2000.108018