A Case of Ehlers-Danlos syndrome Yoing Jin Joo, M.D., Sung Moon Choi, M.D., Young Ja Choi*, M.D., Ho Suk Sung, M.D. Department of Dermatology, Clooego of Medicine, Inje University, Pusan, Korea We presented a case of Ehlers-Danlos syndrome in a 25...
A Case of Ehlers-Danlos syndrome Yoing Jin Joo, M.D., Sung Moon Choi, M.D., Young Ja Choi*, M.D., Ho Suk Sung, M.D. Department of Dermatology, Clooego of Medicine, Inje University, Pusan, Korea We presented a case of Ehlers-Danlos syndrome in a 25-year old female, who had hyperextensibility of skin, skin fragility, cigarette paper-like atrophic scar, joint hyperextensibility and skeletal abnormality of scoliosis since birth. There was no family history. Microscopic and electron microscopic examinations of the skin biopsy specimens from normal appearing skin on the forearm and the site of subcutaneous nodule was compatible with finding of Ehlers-Danlos syndrome. Although the manifestations of this case including marked extensibility of skin, joint, skin fraility and atrophic scar might be in accord with type Ⅰ(gravis) Ehlers-Danlos syndrome, skeletal abnormality of scoliosis did not correspond to this type, but to type Ⅳ(hydroxylysine deficient) Ehlers-Danlos syndrome. We consider this case as a type Ⅳ Ehlers-Danlos syndrome.