Hyperkeratotic cutaneous vascular malformation associated with familial cerebral cavernous malformations (FCCM) with KRIT1/CCM1 mutation

Feldmeyer, Laurence; Baumann‐Vogel, Heide; Tournier‐Lasserve, Elisabeth; Riant, Florence; Jung, Hans H.; French, Lars E.; Kamarashev, Jivko

doi:10.1684/ejd.2014.2280

Cited by 5 publications

(2 citation statements)

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“…Cerebral-cavernous malformation (CCM) is a vascular disorder that affects up to 0.5% of the total population [ 37 ]. The vascular lesions encountered in CCM are frequently referred to as “cerebral cavernomas”, and they arise primarily in the central nervous system (CNS), though they can affect at a lower frequency the retina, liver, kidney, and skin [ 38 , 39 , 40 ].…”

Section: Cerebral-cavernous Malformation (Omim 116860)mentioning

confidence: 99%

“…Many affected individuals are clinically asymptomatic during their entire lives, but patients present an increased risk for stroke, seizures, motor and sensory deficits, and headaches [ 40 , 41 , 42 ]. CCM usually manifests between 20 to 30 years of age, but clinical manifestations can occur at any age.…”

Section: Cerebral-cavernous Malformation (Omim 116860)mentioning

confidence: 99%

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Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update

Colmenero

Knöpfel

2021

Dermatopathology

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Our knowledge in vascular anomalies has grown tremendously in the past decade with the identification of key molecular pathways and genetic mutations that drive the development of vascular tumors and vascular malformations. This has led us to better understand the pathogenesis of vascular lesions, refine their diagnosis and update their classification while also exploring the opportunity for a targeted molecular treatment. This paper aims to provide an overview of venous malformations (VM) in childhood. Specific entities include common VMs, cutaneo-mucosal VM, blue rubber bleb nevus syndrome or Bean syndrome, glomuvenous malformation, cerebral cavernous malformation, familial intraosseous vascular malformation and verrucous venous malformation. The clinicopathological features and the molecular basis of each entity are reviewed.

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