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

Riccardo G. Borroni, Nupoor Narula, Marta Diegoli, Maurizia Grasso, Monica Concardi, Renato Rosso, Alessandra Cerica, Valeria Brazzelli, Eloisa Arbustini

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1032-1034
Number of pages3
JournalExperimental Dermatology
Volume20
Issue number12
DOIs
Publication statusPublished - Dec 2011

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Keywords

  • Glomulin
  • Glomuvenous malformation
  • Molecular genetics

ASJC Scopus subject areas

  • Dermatology
  • Molecular Biology
  • Biochemistry

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