Glomuvenous malformations with smooth muscle and eccrine glands: Unusual histopathologic features in a familial setting

Riccardo G. Borroni, Sara Grassi, Monica Concardi, Ignazio Puccio, Calogero Giordano, Manuela Agozzino, Clelia Caspani, Maurizia Grasso, Marta Diegoli, Eloisa Arbustini

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Glomuvenous malformations (OMIM 138000) are hamartomas presenting in childhood as multiple, bluish papules and nodules in the skin, which are characterized histopathologically by irregular vascular spaces surrounded by typical glomus cells. Glomuvenous malformations are caused by autosomal dominant mutations of the GLMN gene. A 34-year-old woman and her 16-year-old son presented with bluish papules and nodules since childhood. Biopsy specimens from both patients showed histopathologic features of glomuvenous malformations, unusually in consistent and close association with smooth muscle, hair follicles and eccrine glands. Sequencing of the GLMN gene revealed the p.C36X (c.108C>A) mutation in germline DNA from both patients. This is probably the first report describing the hamartomatous features of familial glomuvenous malformations consistently associated with a prominent smooth muscle component and eccrine glands.

Original languageEnglish
Pages (from-to)308-315
Number of pages8
JournalJournal of Cutaneous Pathology
Volume41
Issue number3
DOIs
Publication statusPublished - Mar 2014

Fingerprint

Eccrine Glands
Smooth Muscle
Genetic Databases
Hamartoma
Hair Follicle
Germ-Line Mutation
Nuclear Family
Genes
Blood Vessels
Biopsy
Skin
Mutation
Glomus vagale tumors
DNA

Keywords

  • eccrine glands
  • glomangioma
  • glomuvenous malformation
  • multiple familial glomangiomyomas
  • smooth muscle

ASJC Scopus subject areas

  • Dermatology
  • Pathology and Forensic Medicine
  • Histology

Cite this

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title = "Glomuvenous malformations with smooth muscle and eccrine glands: Unusual histopathologic features in a familial setting",
abstract = "Glomuvenous malformations (OMIM 138000) are hamartomas presenting in childhood as multiple, bluish papules and nodules in the skin, which are characterized histopathologically by irregular vascular spaces surrounded by typical glomus cells. Glomuvenous malformations are caused by autosomal dominant mutations of the GLMN gene. A 34-year-old woman and her 16-year-old son presented with bluish papules and nodules since childhood. Biopsy specimens from both patients showed histopathologic features of glomuvenous malformations, unusually in consistent and close association with smooth muscle, hair follicles and eccrine glands. Sequencing of the GLMN gene revealed the p.C36X (c.108C>A) mutation in germline DNA from both patients. This is probably the first report describing the hamartomatous features of familial glomuvenous malformations consistently associated with a prominent smooth muscle component and eccrine glands.",
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author = "Borroni, {Riccardo G.} and Sara Grassi and Monica Concardi and Ignazio Puccio and Calogero Giordano and Manuela Agozzino and Clelia Caspani and Maurizia Grasso and Marta Diegoli and Eloisa Arbustini",
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T2 - Unusual histopathologic features in a familial setting

AU - Borroni, Riccardo G.

AU - Grassi, Sara

AU - Concardi, Monica

AU - Puccio, Ignazio

AU - Giordano, Calogero

AU - Agozzino, Manuela

AU - Caspani, Clelia

AU - Grasso, Maurizia

AU - Diegoli, Marta

AU - Arbustini, Eloisa

PY - 2014/3

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N2 - Glomuvenous malformations (OMIM 138000) are hamartomas presenting in childhood as multiple, bluish papules and nodules in the skin, which are characterized histopathologically by irregular vascular spaces surrounded by typical glomus cells. Glomuvenous malformations are caused by autosomal dominant mutations of the GLMN gene. A 34-year-old woman and her 16-year-old son presented with bluish papules and nodules since childhood. Biopsy specimens from both patients showed histopathologic features of glomuvenous malformations, unusually in consistent and close association with smooth muscle, hair follicles and eccrine glands. Sequencing of the GLMN gene revealed the p.C36X (c.108C>A) mutation in germline DNA from both patients. This is probably the first report describing the hamartomatous features of familial glomuvenous malformations consistently associated with a prominent smooth muscle component and eccrine glands.

AB - Glomuvenous malformations (OMIM 138000) are hamartomas presenting in childhood as multiple, bluish papules and nodules in the skin, which are characterized histopathologically by irregular vascular spaces surrounded by typical glomus cells. Glomuvenous malformations are caused by autosomal dominant mutations of the GLMN gene. A 34-year-old woman and her 16-year-old son presented with bluish papules and nodules since childhood. Biopsy specimens from both patients showed histopathologic features of glomuvenous malformations, unusually in consistent and close association with smooth muscle, hair follicles and eccrine glands. Sequencing of the GLMN gene revealed the p.C36X (c.108C>A) mutation in germline DNA from both patients. This is probably the first report describing the hamartomatous features of familial glomuvenous malformations consistently associated with a prominent smooth muscle component and eccrine glands.

KW - eccrine glands

KW - glomangioma

KW - glomuvenous malformation

KW - multiple familial glomangiomyomas

KW - smooth muscle

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