ANGIOMA SERPIGINOSUM, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr:
OMIM Id: 300652
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant inheritance
[Omim]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002213) Fine hair 77 / 7739
2
(HPO:0008404) Nail dystrophy 89 / 7739
3
(HPO:0000962) Hyperkeratosis 216 / 7739
4
(HPO:0008070) Sparse hair 94 / 7739
5
(OMIM) Dystrophic nails, mild 2 / 7739
6
(OMIM) Inflammation is usually absent 2 / 7739
7
(OMIM) Lesions often follow Blaschko lines 2 / 7739
8
(HPO:0003677) Slow progression 134 / 7739
9
(HPO:0003577) Congenital onset 133 / 7739
10
(OMIM) Slit-like protrusion of capillary lumen into the endothelial lining 2 / 7739
11
(OMIM) Palms, soles, and oral mucosa are not involved 2 / 7739
12
(OMIM) Nests of dilated and thick-walled capillaries in the dermal papillae 2 / 7739
13
(HPO:0001423) X-linked dominant inheritance 69 / 7739
14
(OMIM) Benign esophageal papillomas 1 / 7739
15
(OMIM) Subepidermal capillary ectasia 2 / 7739
16
(OMIM) Non-purpuric punctate and linear erythematous rash 2 / 7739
17
(OMIM) Extensive cutaneous involvement rarely occurs 2 / 7739
18
(OMIM) Lesions occur on the trunk, back, arms, legs, abdomen, buttocks 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Angioma serpiginosum (AS) is a rare benign congenital skin disorder characterized by nonpurpuric red punctate lesions seen histologically as capillary ectasias in the superficial papillary dermis. The lesions often follow Blaschko lines and are most commonly found in ...
Clinical Description OMIM Blinkenberg et al. (2007) reported a Norwegian family in which 6 females spanning 4 generations had angioma serpiginosum inherited in an X-linked dominant pattern. Four were alive at the time of the report. The proband was a 46-year-old ...