Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report.

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.

• Authors: Ana Rosa Rincón-Sánchez, Irma Elia Arce, Enrique Alejandro Tostado-Rabago, Alberto Vargas, Luis Alfredo Padilla-Gómez, Alejandro Bolaños, Selenne Barrios-Guyot, Víctor Manuel Anguiano-Alvarez, Víctor Chistian Ledezma-Rodríguez, María Cristina Islas-Carbajal, Ana María Rivas-Estilla, Alfredo Feria-Velasco, Nory Omayra Dávalos
• Journal: Case reports in dermatology (Case Rep Dermatol) Vol. 4 Issue 1 Pg. 104-13 (Jan 2012) ISSN: 1662-6567 [Electronic] Switzerland
• PMID: 22787447 (Publication Type: Case Reports)