Basaloid follicular hamartoma syndrome, generalized, autosomal dominant

Preferred Label : Basaloid follicular hamartoma syndrome, generalized, autosomal dominant;

Symbol : GBFHS;

CISMeF acronym : GBFHS;

Type : Phenotype or locus, molecular basis unknown;

Description : 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 historically present in 6 generations. They characterized 18 family members by physical exam and biopsy. The lesions were basaloid follicular hamartomas and other folliculocentric abnormalities. Inheritance was autosomal dominant. Wheeler et al. (2000) suggested that this unique genodermatosis be referred to as 'dominantly inherited generalized basaloid follicular hamartoma syndrome,' or GBFHS. *FIELD* RF 1. Wheeler, C. E.; Carroll, M. A.; Groben, P. A.; Briggaman, R. A.; Prose, N. S.; Davis, D. A.: Autosomal dominantly inherited generalized basaloid follicular hamartoma syndrome: report of a new disease in a North Carolina family. J. Am. Acad. Derm. 43: 189-206, 2000. *FIELD* CS Autosomal dominant;

Inheritance : Autosomal dominant;

Prefixed ID : %605827;

Details

Origin ID

605827;

UMLS CUI

C1853919;

Currated CISMeF NLP mapping
- Generalized basaloid follicular hamartoma syndrome [ORDO Disease]
- Generalized basaloid follicular hamartoma syndrome (disorder) [SNOMED CT concept]
- basaloid follicular hamartoma syndrome, generalized, autosomal dominant [MeSH concept]
- basaloid follicular hamartoma syndrome, generalized, autosomal dominant [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Comedo [HPO term]
- Hamartoma [HPO term]
- Hypohidrosis [HPO term]
- Hypotrichosis of the scalp [HPO term]
- Palmar pits [HPO term]
- Papule [HPO term]
- Sparse scalp hair [HPO term]
ORDO concept(s)
- Generalized basaloid follicular hamartoma syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Generalized basaloid follicular hamartoma syndrome [ORDO Disease]
- basaloid follicular hamartoma syndrome, generalized, autosomal dominant [MeSH Supplementary Concept]
- basaloid follicular hamartoma syndrome, generalized, autosomal dominant [MeSH concept]

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