Ehlers-Danlos syndrome type IV with Charcot Marie tooth disease: an unusual combination of diseases

Autor:	Kannayiram Alagiakrishnan, Stamford L. Schoenberger, Ritter Jill, Adina Chasan, Errol Berman
Rok vydání:	2008
Předmět:	Tooth disease medicine.medical_specialty medicine.anatomical_structure Rheumatology business.industry medicine Genetic disorder Connective tissue medicine.disease business Dermatology Ehlers-Danlos syndrome type IV Artery
Zdroj:	Journal of clinical rheumatology : practical reports on rheumaticmusculoskeletal diseases. 5(4)
ISSN:	1076-1608
Popis:	Ehlers-Danlos Syndrome (EDS) type IV is a rare genetic disorder of connective tissue. Most patients with EDS type IV are frequently unaware of this disorder until the catastrophic rupture of an artery or bowel occurs. We are reporting an association between this and another uncommon autosomal dominant disorder, Charcot Marie Tooth disease. The neurologic problem led to painful foot deformities, requiring surgery, which was complicated by difficulty controlling bleeding in the friable tissues. Other reported associations of heritable disorders of connective tissue and neuropathies are described.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e81e3d00f76a870b81e72fd7dfd9fec1 https://pubmed.ncbi.nlm.nih.gov/19078389 Zobrazit plný text záznamu