¹Sara Ali Al Balushi, ²Rovana Farouq, ²Halima Al Hashmi, ²Ismail Al Rashdi, ²Safiya Al Abrawi

¹Oman Medical Specialty Board, ²Royal Hospital

Purpose Statement: Ehlers Danlos syndrome (EDS) is a group of inherited connective tissue disorders that affects collagen formation and function (2). It is characterized by skin hyperelasticity, hypermobility of joints, atrophic scarring, and fragility of blood vessels (1). It has been reported that EDS affects 1 in 5000 births and its equal in both sexes (4). Identifying the gene encoding the collagen or proteins interacting with it is important to identify the subtype of EDS which will guide the management (1). According to the 2017 international classification for ehlers danlos syndromes, there are 13 subtypes of the syndrome for which all has genetic mutation except for the hypermobile subtype (3). There are no case reports or studies found about EDS in Oman. This case report describes a child with signs and symptoms suggestive of EDS.

Method(s): We reviewed the clinical presentation of a patient who presented with history suggestive of Ehler Danlos Syndrome.

Result(s): 5 years old boy who is born to first degree cousins was referred from polyclinic with history of delayed wound healing, easily bruising and he required very frequent suturing even with minor trauma, which started at age of 1 year, upon taking further history he is found to have skin hyperextensibility and joints hypermobility which are noted by the parents. Examination revealed multiple scars and atrophied skin lesions on previous trauma areas on his both elbows and knees (Fig 3), multiple bruises also noted in his bilateral lower limbs, has hyperextensible skin (Fig 2) and hypermobile joints, Beighton hypermobility score 9/9. Whole exome sequencing test sent by genetic team and still pending, he is also referred to cardiology for baseline ECHO and to ophthalmology and dental clinic to rule out any abnormalities associated with EDS.

Conclusion(s): Ehlers Danlos syndrome is a rare connective tissue disorder that affects the collagen metabolism which leads to skin hyperextensibility and joints hypermobility. Patients also can have complications involving cardiovascular system (such as aneurysms and mitral valve prolapse), gastrointestinal system (hernias and gastrointestinal diverticulosis), and ocular defects (5). Proper history and examination are crucial for early recognition of the signs and symptoms of EDS as these patients may present with only delayed wound healing and abnormal scarring.