Cefle A, Cefle K
Faculty of Medicine, Department of Internal Medicine, Division of Rheumatology, Kocaeli University.
Int J Clin Pract. 2004 Jun;58(6):635-8. doi: 10.1111/j.1368-5031.2004.00139.x.
Juvenile scleroderma, a relatively rare condition, may be confused with a number of progeroid syndromes like Hutchinson-Gilford syndrome, Werner syndrome and Rothmund-Thomson syndrome. In this case report, we describe a 9-year-old boy who presented with sclerodactyly, acroosteolysis and scleroderma-like involvement of the skin over hands and feet, which suggested a diagnosis of juvenile scleroderma initially. However, absence of Raynaud's phenomenon, sparing of the skin other than hands and feet and negative serological studies did not support this diagnosis. On the basis of additional findings (micrognathia, dental malformation, a 'beaked nose', open cranial sutures and sparse hair), the patient was diagnosed as mandibuloacral dysplasia, a rare autosomal recessive disease. This case demonstrates that mandibuloacral dysplasia should be considered in the differential diagnosis of juvenile scleroderma in the presence of atypical features such as negative serological studies, absence of Raynaud's phenomenon, sparse hair and micrognathia.
青少年硬皮病是一种相对罕见的疾病，可能会与多种早老综合征相混淆，如哈钦森-吉尔福德综合征、沃纳综合征和罗思蒙德-汤姆森综合征。在本病例报告中，我们描述了一名9岁男孩，他出现了手指硬化、肢端骨质溶解以及手足皮肤类似硬皮病的病变，最初提示诊断为青少年硬皮病。然而，无雷诺现象、除手足外皮肤未受累以及血清学检查阴性均不支持这一诊断。基于其他发现（小颌畸形、牙齿发育异常、“鹰嘴鼻”、颅骨缝开放和头发稀疏），该患者被诊断为下颌-肢端发育不良，一种罕见的常染色体隐性疾病。本病例表明，在存在血清学检查阴性、无雷诺现象、头发稀疏和小颌畸形等非典型特征的情况下，青少年硬皮病的鉴别诊断应考虑下颌-肢端发育不良。
