Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report.
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.
Ana Rosa
AR
Rincón-Sánchez
Irma Elia
IE
Arce
Enrique Alejandro
EA
Tostado-Rabago
Alberto
A
Vargas
Luis Alfredo
LA
Padilla-Gómez
Alejandro
A
Bolaños
Selenne
S
Barrios-Guyot
Víctor Manuel
VM
Anguiano-Alvarez
Víctor Chistian
VC
Ledezma-Rodríguez
María Cristina
MC
Islas-Carbajal
Ana María
AM
Rivas-Estilla
Alfredo
A
Feria-Velasco
Nory Omayra
NO
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