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Angioma serpiginosum
Disease definition
A benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.
ORPHA:95429
Classification level: DisorderSummary
Epidemiology
The disease occurs almost exclusively in females.
Etiology
A mutation in the Xp11.3-Xq12 region has been identified in one of the reported families. However, in this family the AS was associated with oesophageal papillomatosis leading to the suggestion that this case of familial AS represents a mild form of focal dermal hypoplasia (see this term).
Genetic counseling
The majority of cases are sporadic. Only a few familial cases have been reported in the literature so far and transmission may be autosomal dominant or X-linked.
A summary on this disease is available in Español (2008) Français (2008) Nederlands (2008) Deutsch (2007) Italiano (2007)
Additional information