A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations.

Abstract:

:Glomuvenous malformations (GVM) are hamartomas characterized histologically by glomus cells, which should be distinguished from glomus tumors. Familial GVM are rare, often present as multiple lesions, and exhibit familial aggregation, with autosomal dominant transmission. GVM are caused by mutations of the glomulin (GLMN) gene on chromosome 1p21-p22. Their development is thought to follow the 'two-hit' hypothesis, with a somatic mutation required in addition to the inherited germline mutation. We describe a novel GLMN mutation in an Italian family with GVM in which some members present with the less commonly observed phenotype of solitary lesions. A second somatic 'hit' mutation in GLMN was not discovered in our family. We further provide histological, immunohistochemical and electron microscopic data exhibiting the classic features of GVM. The diagnosis of GVM is critical because of distinction from venous malformations and blue rubber bleb nevus syndrome, which may demonstrate clinical similarities but require different treatment.

journal_name

Exp Dermatol

journal_title

Experimental dermatology

authors

Borroni RG,Narula N,Diegoli M,Grasso M,Concardi M,Rosso R,Cerica A,Brazzelli V,Arbustini E

doi

10.1111/j.1600-0625.2011.01387.x

subject

Has Abstract

pub_date

2011-12-01 00:00:00

pages

1032-4

issue

12

eissn

0906-6705

issn

1600-0625

journal_volume

20

pub_type

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