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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| Format: | Article |
| Language: | English |
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2012
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| Online Access: | http://eprints.uanl.mx/15039/1/659.pdf |
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| author | 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 |
| author_facet | 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 |
| author_sort | Rincón Sánchez, Ana Rosa |
| collection | Repositorio Institucional |
| description | 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. |
| format | Article |
| id | eprints-15039 |
| institution | UANL |
| language | English |
| publishDate | 2012 |
| record_format | eprints |
| spelling | eprints-150392022-04-07T21:59:05Z http://eprints.uanl.mx/15039/ Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report 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 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. 2012 Article PeerReviewed text en cc_by_nc_nd http://eprints.uanl.mx/15039/1/659.pdf http://eprints.uanl.mx/15039/1.haspreviewThumbnailVersion/659.pdf 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 http://doi.org/10.1159/000338277 doi:10.1159/000338277 |
| spellingShingle | 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 Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report |
| thumbnail | https://rediab.uanl.mx/themes/sandal5/images/online.png |
| title | Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report |
| title_full | Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report |
| title_fullStr | Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report |
| title_full_unstemmed | Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report |
| title_short | Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report |
| title_sort | ehlers danlos syndrome type viic a mexican case report |
| url | http://eprints.uanl.mx/15039/1/659.pdf |
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