Here I present: “Cutaneomucosal Venous Malformation“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (TIE2) 多發性皮膚黏膜靜脈畸形。icd10=Q27.8
Genomic coordinate (9:27,109,225 human TEI2 / TEK) & (4:94,627,526 mouse Tei2 / Tek).
Cytoband (9p21.2 human TEI2 / TEK)& (4qC5 Tei2 / Tek mouse).
INTRODUCTION.
Cutaneomucosal venous malformation (CMVM) is a inheritable form of venous malformation in which lesions tend to be multifocal and small. They are composed of grossly dilated vascular spaces lined by a single continuous layer of endothelial cells, with areas of relative lack of surrounding mural cells, suggesting a defect in their recruitment. Some CMVM patients have venous malformations located in internal organs, and some have additional anomalies, including cardiac malformations.
Cutaneomucosal venous malformation (CMVM) is a type of congenital venous malformation involving skin and mucous membranes.
1. Definition.
Cutaneomucosal venous malformation (CMVM) is a congenital, slow-flow venous malformation that involves the skin (cutaneous) and mucous membranes (oral, nasal, gastrointestinal, or genitourinary mucosa).
It is typically present at birth, though sometimes subtle and noticeable only later. It belongs to the blue/purple venous malformation group of vascular anomalies.
2. Causes & Genetics.
Most cases are sporadic, caused by post-zygotic somatic mutations. Genes associated with venous malformations include:
TIE2/TEK
PIK3CA
Less commonly GLMN, RASA1.
Some CMVM are part of PIK3CA-related overgrowth spectrum (PROS) if associated with asymmetric growth or other anomalies.
3. Clinical Features.
A. Cutaneous Features.
Blue or purple soft compressible lesions
Swelling increases with:
Valsalva maneuver,
Dependence (gravity),
Physical activity,
May be localized or scattered.
Temperature change: lesions may feel cool due to slow flow.
B. Mucosal Lesions.
Frequently involve:
Oral mucosa (lips, tongue, buccal mucosa).
Nasal passages,
Conjunctiva,
Gastrointestinal mucosa,
Genitourinary tract,
Symptoms may include:
Bleeding (particularly oral or GI).
Pain from thrombosis inside VM.
Functional impairment depending on location.
C. Pain Episodes.
Due to thrombophlebitis inside the malformation, leading to:
Localized intense pain,
Hardening of the lesion,
Temporary size increase.
There is evidence that cutaneomucosal venous malformations (CMVM) in humans is caused by heterozygous mutation in the TIE2 gene (TEK) which encodes the epithelial-specific tyrosine kinase receptor, on genomic coordinate 9:27,109,225, and cytoband 9p21.2.
