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Angioma serpiginosum, autosomal dominant

MedGen UID:
370186
Concept ID:
C1970130
Disease or Syndrome
Synonym: Autosomal dominant angioma serpiginosum
 
Monarch Initiative: MONDO:0007115
OMIM®: 106050

Definition

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. [from OMIM]

Clinical features

From HPO
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.

Recent clinical studies

Etiology

Happle R
J Eur Acad Dermatol Venereol 2015 Dec;29(12):2295-305. Epub 2015 Apr 10 doi: 10.1111/jdv.13147. PMID: 25864701

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