Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report

Rincón Sánchez, Ana Rosa y Arce, Irma Elia y Tostado Rabago, Enrique Alejandro y Vargas, Alberto y Padilla Gómez, Luis Alfredo y Bolaños, Alejandro y Barrios Guyot, Selenne y Anguiano Alvarez, Víctor Manuel y Ledezma Rodríguez, Víctor Chistian y Islas Carbajal, María Cristina y Rivas Estilla, Ana María y Feria Velasco, Alfredo y Dávalos, Nory Omayra (2012) Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report. Case Reports in Dermatology, 4 (1). pp. 104-113. ISSN 1662-6567

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URL o página oficial: http://doi.org/10.1159/000338277

Resumen

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.

Tipo de elemento: Article
Palabras claves no controlados: Ehlers-Danlos syndrome · Human dermatosparaxis · Elastic connective tissue · ADAMTS2 gene
Divisiones: Medicina
Usuario depositante: Lic. Josimar Pulido
Creadores:
CreadorEmailORCID
Rincón Sánchez, Ana RosaNO ESPECIFICADONO ESPECIFICADO
Arce, Irma EliaNO ESPECIFICADONO ESPECIFICADO
Tostado Rabago, Enrique AlejandroNO ESPECIFICADONO ESPECIFICADO
Vargas, AlbertoNO ESPECIFICADONO ESPECIFICADO
Padilla Gómez, Luis AlfredoNO ESPECIFICADONO ESPECIFICADO
Bolaños, AlejandroNO ESPECIFICADONO ESPECIFICADO
Barrios Guyot, SelenneNO ESPECIFICADONO ESPECIFICADO
Anguiano Alvarez, Víctor ManuelNO ESPECIFICADONO ESPECIFICADO
Ledezma Rodríguez, Víctor ChistianNO ESPECIFICADONO ESPECIFICADO
Islas Carbajal, María CristinaNO ESPECIFICADONO ESPECIFICADO
Rivas Estilla, Ana MaríaNO ESPECIFICADONO ESPECIFICADO
Feria Velasco, AlfredoNO ESPECIFICADONO ESPECIFICADO
Dávalos, Nory OmayraNO ESPECIFICADONO ESPECIFICADO
Fecha del depósito: 22 Mayo 2019 15:14
Última modificación: 22 Mayo 2019 15:14
URI: http://eprints.uanl.mx/id/eprint/15039

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