EHLERS-DANLOS SYNDROME-TYPE II

The Ehlers Danlos syndromes (EDS) are a group of disorders of collagen metabolism characterised by skin hyperextensibility, joint hypermobility & sometimes systemic involvement. The severity ranges from mild to lethal. There are eleven types of EDS identified based on the clinical features; however sometimes these clinical features do not fit into a distinct subtype [1, 2]. EDS is an inherited disorder transmitted by autosomal dominant, autosomal recessive or linked recessive genes. The basic defect is in deficient biosynthesis of type I or type III collagen fibres [3]. These disorders are rare, some cases have been reported from India [4, 5, 6]. We are reporting one such case of EDS type II (mitis). Case Report A nineteen-year-old male reported for a trivial skin ailment. During examination he was incidentally noticed to have hyperextensible skin. History revealed skin hyperextensibility since early childhood, presence of easy bruisability & delayed wound healing but there was no dislocation of joints or relevant family history. His development milestones were apparently normal. Examination revealed a tall individual of height 178 cms & distance between fingertips 187 cms. There was no dolichostenomelia, ratio of upper to lower segment being 1.19 (upper segment 97 cms, lower segment 81 cms). His eyes were widely spaced with a broad nasal bridge (Fig 1). The skin was hyperelastic & could be pulled away easily (Fig 2) but quickly returned to normal position when released. There were no loose folds of skin or striae. One atrophic scar was present over the left knee. The fingers were long with increased extension, however the thumb sign and wrist signs were negative. The gait, eyes, palate and foot arches were normal and there were no bony defects, varicosites or hernias. General & systemic examination revealed no abnormality. Open in a separate window Fig 1 Widely spaced eyes with broad nasal bridge