Dermatosparaxis Ehlers-Danlos syndrome

Dermatosparaxis Ehlers-Danlos syndrome (dEDS), formerly known as Ehlers-Danlos syndrome type VIIC, is an extremely rare heritable connective tissue disorder characterized by extreme skin fragility and laxity. The name 'dermatosparaxis' derives from Greek and Latin roots meaning 'tearing of skin.' This condition is caused by biallelic pathogenic variants in the ADAMTS2 gene, which encodes procollagen I N-proteinase, an enzyme essential for proper processing of type I procollagen into mature collagen fibrils. Without functional enzyme activity, collagen fibrils have an abnormal, hieroglyphic-like appearance on electron microscopy, leading to severely compromised connective tissue integrity. The condition primarily affects the skin, which is extremely fragile, soft, and doughy, with marked bruisability and sagging, redundant folds. Skin tears and wounds occur with minimal trauma, though wound healing is not typically severely impaired. Other characteristic features include large fontanelles and wide cranial sutures at birth, blue sclerae, micrognathia, short stature, joint hypermobility, umbilical or inguinal hernias, and premature rupture of fetal membranes. Affected individuals may also develop gingival hyperplasia and delayed closure of fontanelles. Unlike some other forms of Ehlers-Danlos syndrome, vascular complications and severe joint instability are generally less prominent, though careful monitoring is still warranted. There is currently no cure or specific disease-modifying therapy for dermatosparaxis EDS. Management is supportive and multidisciplinary, focusing on skin protection to minimize trauma, careful wound management, monitoring for hernias, and orthopedic surveillance for joint-related complications. Protective clothing and padding may help reduce skin injuries. Genetic counseling is recommended for affected families. Fewer than 30 cases have been reported in the medical literature worldwide, making this one of the rarest subtypes of Ehlers-Danlos syndrome.

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