Madelung's disease, also known as benign symmetric lipomatosis (BSL), multiple symmetric lipomatosis (MSL), fatty neck syndrome or Launois-Bensaude syndrome, is a rare disease characterized by the presence of multiple, symmetric, loose adipose tissues distributed around the neck, occipitalis, shoulder, back or chest. The fat masses are non-encapsulated and therefore can move freely between adja...

Mutations of the PTEN gene are associated with hamartoma-neoplasia syndromes. While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-RileyRuvalcaba syndrome (BRR), both of which phenotypes are associated with hamartomata and neoplasia, somatic mutation of PTEN has been established in a wide variety of sporadically occurri...

The aim of this study was to assess the prevalence and identify the patterns of lumbar spinal epidural lipomatosis in our institute (Dr. Pinnamaneni Siddhartha Institute of Medical Sciences & Research). The study included the Spinal Epidural Lipomatosis (SEL) detected on lumbar spine Magnetic resonance imaging (MRI) scans performed at the author's hospital and to compare the frequency& patterns...

Spinal epidural lipomatosis (SEL) results from an abnormal accumulation of unencapsulated fat within the epidural space and is a rare cause of spinal cord compression, which needs to be considered with a high index of suspicion. It most commonly occurs secondary to chronic corticosteroid use and endocrinopathies. Idiopathic cases are highly associated with obesity. We report an unusual case of ...

Mutations of the PTEN gene are associated with hamartoma-neoplasia syndromes. While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), both of which phenotypes are associated with hamartomata and neoplasia, somatic mutation of PTEN has been established in a wide variety of sporadically occurr...

We report an unusual case of hemimegalencephaly (HMG) associated with ipsilateral congenital-infiltrating lipomatosis of the face in a five-month-old boy. Hemimegalencephaly is a rare but unique malformation characterized by enlargement of all or parts of a cerebral hemisphere. The affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria...

INTRODUCTION Intraosseous lipoma is an uncommon entity that presents almost exclusively as a solitary lesion. Multiple intraosseous lipomas are exceedingly rare with only a few cases being reported in the literature. CASE PRESENTATION We present a case of 43-year-old African American female who presented with left leg and left wrist pain. The initial radiographs revealed well-defined radioluc...

Spinal epidural lipomatosis is a rare disorder characterized by the pathological overgrowth of epidural fat and often causes extradural compression which may mimic other spinal disorders. Steroid administration is a well-documented etiology. We report a case of spinal epidural lipomastosis without history of steroid administration. The initial manifestation was bizarre and was misdiagnosed as a...

BACKGROUND Encephalocraniocutaneous lipomatosis (ECCL) was first announced as a new type of ectomesodermal dysgenesis in 1970 by Haberland and Perou. ECCL was first described in 1970, and approximately 60 cases have been reported since then. The classic triad of ECCL are skin, ocular, and central nervous system involvement, including conditions such as unilateral porencephalic cyst, ipsilateral...