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Vol. 4, No. 1, 2012
Issue release date: January – April
Section title: Published: April 2012

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Case Rep Dermatol 2012;4:104–113

Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report

Rincón-Sánchez A.R.a · Arce I.E.e · Tostado-Rabago E.A.f · Vargas A.g · Padilla-Gómez L.A.h · Bolaños A.i · Barrios-Guyot S.j · Anguiano-Alvarez V.M.b · Ledezma-Rodríguez V.C.b · Islas-Carbajal M.C.c · Rivas-Estilla A.M.l · Feria-Velasco A.d · Dávalos N.O.b, k
Institutos deaEnfermedades Crónico Degenerativas y bGenética Humana, y cUnidad de Investigación Cardiovascular, Centro Universitario de Ciencias de la Salud, y dLaboratorio de Neurobiología Celular, Departamento de Biología Molecular CUCBA, Universidad de Guadalajara, Guadalajara, eNeonatología, fCirugía-Pediátrica, gOftalmología, hNeuropediatría, iOrtopedia y Traumatología, jCardiopediatría, y kGenética, Hospital Regional ‘Dr. Valentín Gómez Farias’ ISSSTE, Zapopan, y lDepartamento de Bioquímica y Biología Molecular, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, México
email Corresponding Author

Nory Omayra Dávalos, MD, PhD

Instituto de Genética HumanaCentro Universitario de Ciencias de la Salud, Universidad de GuadalajaraGuadalajara 44340 (Mexico)

Tel. +52 33 1058 5291, E-Mail

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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.

© 2012 S. Karger AG, Basel

Article / Publication Details

First-Page Preview
Abstract of Published: April 2012

Published online: 4/20/2012
Issue release date: January – April

Number of Print Pages: 10
Number of Figures: 5
Number of Tables: 1

ISSN: (Print)
eISSN: 1662-6567 (Online)

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