UNLABELLED We report a case of a female with hemihypertrophy, who developed five recurrences of pheochromocytomas until the age of 35. Timely follow-up of the patient's blood pressure assisted in early diagnosis and treatment of recurrent tumors. LEARNING POINTS Recurrent benign pheochromocytomas should raise suspicion of a genetic syndrome.A pheochromocytoma at a young age has a high propens...

Inheritance of congenital lipodystrophy is autosomal recessive, while it is autosomal dominant for familial lipodystrophy. In addition to congenital and familial lipodystrophies, this Panel has differentail diagnostics power to some rare phenotypes with overlapping symptoms. These include for example hypoinsulinemic hypoglycemia with hemihypertrophy and mandibuloacral dysplasia with lipodystrop...

The extremely rare Proteus Syndrome is a hamartomatous congenital syndrome with substantial variability between clinical patient presentations. The diagnostic criteria consist of a multitude of clinical findings including hemihypertrophy, macrodactyly, epidermal nevi, subcutaneous hamartomatous tumors, and bony abnormalities. These clinical findings correlate with striking radiographic findings.

We present a case of hemifacial hyperplasia in an infant manifesting predominantly as lipomatosis and hemihypertrophy of the maxilla. To our knowledge, there is only 1 other case report in the literature demonstrating the MR imaging features of this condition. Our case was manifest almost exclusively as lipomatosis, largely lacking muscular hypertrophy/hyperplasia.

objective proteus syndrome is an extremely rare, sporadic and progressive disorder. we describe a four-month-old male baby with central nervous system manifestations in this article. clinical presentation a four-month-old boy was admitted into our hospital with three tonic - clonic generalized seizure attacks which started from the day before admission. each seizure attack lasted less than 10 m...

Introduction: Mesenchymal chondrosarcoma is a malignant tumor which originates from chondrogenic tissue. Agressive surgery is considered the major treatment method for the primary disease but there may be unsatisfactory results of surgery depending on location or extension to unresectable sites of majority of mesenchymal chondrosarcomas. Hemihyperplasia, formerly called hemihypertrophy, is a ra...