Ehlers-Danlos syndrome, dermatosparaxis type. (Ehlers-Danlos syndrome type 7C)
Incidence
Dermatosparaxis is transmitted as an autosomal recessive trait and is very rare.
Clinical Characteristics
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inherited disorders in connective tissues characterized by hyperextensible skin and joints and tissue friability. The new classification defines 6 clinical forms among which the dermatosparaxis type, formerly called EDS type VIIC. It is marked by extremely fragile and friable tissues, hyperextensible skin and easy bruising. The following signs are very frequently seen: hypotonia, speech defect, dislocated hip, abnormal scarring, hyperelastic skin, joint dislocation, short stature/dwarfism, restricted joint mobility, autosomal recessive inheritance. Frequently seen are also scoliosis, hypertelorism, epicanthic folds, depressed nasal bridge, micrognatia/retrognatia.We may see inguinal hernia (Occasional sign). Dermatosparaxis is transmitted as an autosomal recessive trait and is very rare. The clinical diagnosis can be confirmed in specialised laboratories by the biochemical study of aminoterminal propeptides in collagen type I extracted from cultured skin fibroblasts.
Precipitants
none
Provocation Tests
none
Diagnostic Procedures
The clinical diagnosis can be confirmed in specialised laboratories by the biochemical study of aminoterminal propeptides in collagen type I extracted from cultured skin fibroblasts.