Angioma serpiginosum, autosomal dominant

Preferred Label : Angioma serpiginosum, autosomal dominant;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Angioma serpiginosum is an uncommon benign skin disorder characterized by asymptomatic clusters of nonpurpuric punctate erythematous lesions. The rash is asymptomatic but may lead to cosmetic problems and can be treated by laser therapy. Women are most commonly affected, and the disorder is most often sporadic, although rare families suggestive of autosomal dominant inheritance have been reported (Sandhu and Gupta, 2005). No male-to-male transmission has been described, but father-to-daughter transmissions are known. It has been suggested that the pattern of skin involvement may be due to cutaneous somatic mosaicism (Chen et al., 2006; Blinkenberg et al., 2007). An X-linked dominant form of angioma serpiginosum (300652) has been mapped. The few males described may actually represent somatic mosaicism of an X-linked gene.;

Inheritance : Autosomal dominant; Isolated cases;

Prefixed ID : 106050;

Details

Origin ID

106050;

UMLS CUI

C1970130;

Currated CISMeF NLP mapping
- angioma serpiginosum, autosomal dominant [MeSH concept]
- angioma serpiginosum, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- angioma serpiginosum [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Electron microscopic abnormality of the skin [HPO term]
- Hyperkeratosis [HPO term]
- Isolated cases [HPO term]
- Juvenile onset [HPO term]
- Slowly progressive [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- Angioma serpiginosum [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- angioma serpiginosum, autosomal dominant [MeSH Supplementary Concept]
- angioma serpiginosum, autosomal dominant [MeSH concept]
Validated automatic mappings to NTBT
- Angioma serpiginosum [ORDO Disease]

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