Document Detail


A collection of rare anomalies: multiple digital glomuvenous malformations, epidermal naevus, temporal alopecia, heterochromia and abdominal lipoblastoma.
MedLine Citation:
PMID:  20055849     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Glomuvenous malformations are a subtype of venous malformations, which present in infancy or childhood. We describe a teenage girl who presented with multiple digital glomuvenous malformations from birth. In addition, she had an epidermal naevus on the upper lip, an area of congenital alopecia of the scalp, heterochromia irides and an abdominal lipoblastoma. We are unaware of any reports of the association of multiple glomuvenous malformations with the other uncommon developmental anomalies seen in our patient, and a common link eludes us.
Authors:
S Hill; M Rademaker
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical and experimental dermatology     Volume:  34     ISSN:  1365-2230     ISO Abbreviation:  Clin. Exp. Dermatol.     Publication Date:  2009 Dec 
Date Detail:
Created Date:  2010-01-08     Completed Date:  2010-08-18     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7606847     Medline TA:  Clin Exp Dermatol     Country:  England    
Other Details:
Languages:  eng     Pagination:  e862-4     Citation Subset:  IM    
Affiliation:
Dermatology Department, Waikato Hospital, Hamilton, New Zealand.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics
Adolescent
Alopecia / genetics*
Female
Genotype
Humans
Lipoma / genetics*
Nevus, Pigmented / genetics*
Phenotype
Prognosis

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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