1/2. Mandibuloacral dysplasia: a report of two Egyptian cases.Mandibuloacral dysplasia (MAD) is a rare disorder. Only 35 patients, coming from 22 families, have been reported worldwide. We report on two Egyptian unrelated girls with MAD. The first patient presented at the age of 5 years with acral defect and partial alopecia. The second patient presented at the age of 17 years with progressive micrognathia and loss of subcutaneous fat from the limbs. physical examination detected the craniofacial, skeletal and cutaneous changes characteristic of MAD. Both patients were short with progeroid facies and loss of subcutaneous fat from the extremities, which fits lipodystrophy type A pattern. Radiological examination revealed delayed closure of cranial sutures, hypoplastic mandible, hypoplastic clavicles, and acroosteolysis. Both patients had normal glucose tolerance, but had fasting and post-prandial hyperinsulinemia, suggestive of insulin resistance. One patient had elevated serum triglycerides and low normal cholesterol levels, while the other patient had normal levels. serum leptin was normal in both patients. We review the literature on mandibuloacral dysplasia and discuss the differential diagnosis.- - - - - - - - - - ranking = 1keywords = subcutaneous fat, fat (Clic here for more details about this article) |
2/2. blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome?We report on a patient with blepharophimosis who after unsuccessful surgery developed progressive corneal vascularization. The patient had conductive hearing loss, acroosteolysis of the phalanges, arthropathy, loss of subcutaneous fat of the hands, feet and face, and oligospermia. He had had spontaneous pneumothorax four times. We have found no similar case reports in the literature and suggest that this is a new syndrome, which must be differentiated from hereditary mucoepithelial dysplasia, mandibuloacral dysplasia, keratitis-ichthyosis-deafness syndrome, hajdu-cheney syndrome, Penttinen syndrome, and mucopolysaccharidoses.- - - - - - - - - - ranking = 0.5keywords = subcutaneous fat, fat (Clic here for more details about this article) |