A case of mandibuloacral dysplasia presenting with features of scleroderma

Cefle A., Cefle K.

INTERNATIONAL JOURNAL OF CLINICAL PRACTICE, vol.58, no.6, pp.635-638, 2004 (SCI-Expanded) identifier identifier identifier


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 scleroclactyly, 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. (C) 2004 Blackwell Publishing Ltd.