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http://dx.doi.org/10.1684/ejd.2018.3390DOI Listing

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Article Synopsis
  • Familial glomangiomatosis is a rare condition caused by a genetic change that leads to abnormal blood vessel growth, called glomus tumors.
  • An 11-year-old girl with this condition was treated successfully using a special laser called Nd:YAG long-pulse laser.
  • After three laser treatments, her tumors shrank by more than 80%, her pain disappeared, and there were no side effects.
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Background: Inherited hyperpigmented skin disorders comprise a group of entities with considerable clinical and genetic heterogenicity. The genetic basis of a majority of these disorders remains to be elucidated.

Objectives: This study aimed to identify the underlying gene for an unclarified disorder of autosomal-dominant generalized skin hyperpigmentation with or without glomuvenous malformation.

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A rapidly growing cutaneous malignant glomus tumor with a CCND3 mutation.

J Cutan Pathol

February 2023

Division of Dermatopathology, Joint Pathology Center, Silver Spring, Maryland, USA.

Glomus tumors are rare mesenchymal neoplasms composed of cells resembling the glomus body. They are most frequently seen in subungual regions but have been reported to arise in almost every anatomic location. Malignant glomus tumors, also called glomangiosarcomas, of cutaneous origin are exceedingly rare with only 47 reported cases.

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Objective: Germline mutations of either the endothelial cell-specific tyrosine kinase receptor TIE2 or the glomulin (GLMN) gene are responsible for rare inherited venous malformations. Both genes affect the hepatocyte growth factor receptor c-Met, inducing vascular smooth muscle cell migration. Germline mutations of hepatocyte growth factor are responsible for lymphatic malformations, leading to lymphedema.

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