Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report | oneedsvoice

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Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report

key information

source: Case Reports in Dermatology

year: 2012

authors: Rincón-Sánchez AR, Arce IE, Tostado-Rabago EA, Vargas A, Padilla-Gómez LA, Bolaños A, Barrios-Guyot S, Anguiano-Alvarez VM, Ledezma-Rodríguez VC, Islas-Carbajal MC, Rivas-Estilla AM, Feria-Velasco A, Dávalos NO

summary/abstract:

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders whose primary clinical features include soft and extensible skin, articular hypermobility and tissue fragility. EDS type VIIC or ‘human dermatosparaxis’ is an autosomal recessive disease characterized by severe skin fragility and sagging redundant skin (major criteria) with a soft, doughy texture, easy bruising, premature rupture of fetal membranes and large hernias (minor criteria). Dermatosparaxis (meaning ‘tearing of skin’), which has been described in several non-human species, is a disorder of the connective tissue resulting from a deficiency of the enzyme that cleaves the registration peptide off the N-terminal end of collagen after it has been secreted from fibroblasts. We describe a Mexican case from consanguineous parents with all the phenotypical characteristics previously described, plus skeletal abnormalities.

organisation: Instituto de Enfermedades Crónico Degenerativas, Centro Universitario de Ciencias de la Salud; Universidad de Guadalajara; Universidad Autónoma de Nuevo León; Hospital Regional ‘Dr. Valentín Gómez Farias’ ISSSTE

DOI: 10.1159/000338277

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