Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders whose primary clinicalfeatures include soft and extensible skin, articular hypermobility and tissue fragility. EDS type VIIC or ‘human dermatosparaxis’ is an autosomal recessive disease characterized by se...

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Bibliographic Details
Main Authors: Rincón Sánchez, Ana Rosa, Arce, Irma Elia, Tostado Rabago, Enrique Alejandro, Vargas, Alberto, Padilla Gómez, Luis Alfredo, Bolaños, Alejandro, Barrios Guyot, Selenne, Anguiano Alvarez, Víctor Manuel, Ledezma Rodríguez, Víctor Chistian, Islas Carbajal, María Cristina, Rivas Estilla, Ana María, Feria Velasco, Alfredo, Dávalos, Nory Omayra
Format: Article
Language:English
Published: 2012
Online Access:http://eprints.uanl.mx/15039/1/659.pdf
Description
Summary:Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders whose primary clinicalfeatures 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.