Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

Last update 01 Nov 2024

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HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations, 角化过度的皮肤毛细血管-静脉畸形与脑毛细血管畸形相关

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100 Clinical Results associated with Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

100 Translational Medicine associated with Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

0 Patents (Medical) associated with Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

Literatures (Medical) associated with Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

01 Sep 2022·Journal of NeurologyQ2 · MEDICINE

A review of the natural history of Sturge–Weber syndrome through adulthood

Q2 · MEDICINE

Review

Author: Gourfinkel-An, Isabelle ; Dupont, Sophie ; Pichit, Phintip ; Navarro, Vincent ; Vellieux, Geoffroy ; Frazzini, Valerio

BACKGROUNDSturge-Weber syndrome (SWS) is a neurocutaneous disorder caused by a somatic mutation in the GNAQ gene, leading to capillary venous malformations with neurological, ocular, and cutaneous abnormalities. Descriptions of adult and elderly patients with SWS are scarce compared to those of neonates or children.METHODSWe reviewed clinical, neuro-radiological and electroencephalographical findings of adult patients diagnosed with SWS, treated in our tertiary center for rare epilepsies.RESULTSTen adult patients were identified with a median age of 48 years at inclusion. All patients had seizures, with features of temporal lobe involvement for five patients. One patient presented typical drug-resistant mesial temporal seizures with ipsilateral hippocampal sclerosis and leptomeningeal enhancement, and was treated surgically. Other patients presented typical neurological and brain imaging features found in SWS. One patient without visible leptomeningeal angioma or brain calcifications presented neurological symptoms (tonic-clonic generalized seizures) for the first time at the age of 56. Two of the oldest patients in our cohort with supratentorial leptomeningeal angioma displayed contralateral cerebellar atrophy, consistent with crossed cerebellar diaschisis. Over 70 years of follow-up data were available for one patient whose epilepsy started at the age of 6 months, offering a vast overview of the course of SWS, in particular the onset of dementia and contralateral micro-bleeds in relation to the leptomeningeal angioma.CONCLUSIONThe long follow-up of our cohort allows for a description of the course of SWS and a characterization of uncommon neurological features in adult and elderly patients.

01 Mar 2022·Pediatric Dermatology

KRIT1‐positive hyperkeratotic cutaneous capillary venous malformation

Author: Fernandez Faith, Esteban ; Lillis, Anna P. ; Ho, Mai‐Lan ; Matarneh, Bayan ; Koo, Selene C. ; Cottrell, Catherine E. ; Fung, Bonita ; Choi, Samantha ; Pearson, Gregory

AbstractCerebral cavernous malformations (CCM) may present in sporadic or familial forms, with different cutaneous manifestations including deep blue nodules, capillary malformations, and hyperkeratotic cutaneous capillary venous malformations (HCCVM). We report the case of an infant with a KRIT1‐positive HCCVM associated with familial CCM. Moreover, histopathology showed positive immunohistochemical stain with GLUT1, further expanding the differential diagnosis of GLUT1‐positive vascular anomalies.

01 Nov 2021·Journal of Pharmacy and Bioallied Sciences

Sturge–Weber Syndrome and Glaucoma

Author: Venkatachalam, Paneerselvam ; Anbuselvan, Sambavi

Sturge–Weber syndrome (SWS) is a neurocutaneous syndrome characterized by capillary venous malformations in the skin, eye, and brain with the occurrence of angiomas of the face, choroid, and leptomeninges. The characteristics signs include facial port-wine birth mark, glaucoma, choroidal hemangioma with brain malformations, and cognitive abnormalities. In this article, we have documented the case report of a 24-year-old male with SWS presenting with glaucoma.

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Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

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