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Autosomal dominantly inherited generalized basaloid follicular hamartoma syndrome: report of a new disease in a North Carolina family.
- Source :
-
Journal of the American Academy of Dermatology [J Am Acad Dermatol] 2000 Aug; Vol. 43 (2 Pt 1), pp. 189-206. - Publication Year :
- 2000
-
Abstract
- 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.<br />Objective: Our objectives were to delineate the clinical and histopathologic features and mode of inheritance as a base for gene studies.<br />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.<br />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.<br />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.
Details
- Language :
- English
- ISSN :
- 0190-9622
- Volume :
- 43
- Issue :
- 2 Pt 1
- Database :
- MEDLINE
- Journal :
- Journal of the American Academy of Dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 10906638
- Full Text :
- https://doi.org/10.1067/mjd.2000.108018