Long-term follow-up of cutaneous changes in siblings with mandibuloacral dysplasia who were originally considered to have hereditary sclerosing poikiloderma.
Mandibuloacral dysplasia is a rare syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated, club-shaped terminal phalanges, acroosteolysis, atrophy of the skin over the hands and feet, and poikilodermatous skin changes. We describe the cases of two siblings with features of mandibuloacral dysplasia who as children were considered to have hereditary sclerosing poikiloderma. On their reevaluation as adults, the clinical features of their condition were perceived to be compatible with mandibuloacral dysplasia.
Fryburg
J S
JS
Department of Pediatrics, University of Virginia Health Sciences Center, Charlottesville 22908, USA.
Sidhu-Malik
N
N
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D002968:Clavicle / Q000002:abnormalities*; D003286:Contracture; D003937:Diagnosis, Differential; D005094:Exophthalmos; D005260:Female; D005385:Fingers; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008334:Mandible / Q000002:abnormalities*; D009679:Nuclear Family; D010005:Osteoarthropathy, Secondary Hypertrophic; D010859:Pigmentation Disorders; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis*; D013577:Syndrome