The first description of oral lipomas was made by Roux in 1848. He referred it as a ‘yellow Epulis’ [4]. Morphologically intra-oral lipomas can be classified as diffuse form affecting the deeper tissues, superficial form and encapsulated form [5]. Multiple head and neck lipomas have been observed in neurofibromatosis, Gardner syndrome, EcephaloCraniocutaneous lipomatosis, Multiple familial lipo...

In this paper we present a rare case of splenic rupture that occurred after an open aortic valve replacement in a male patient with hemangiomatosis of the spleen and the liver. The patient was treated with an emergency splenectomy. He showed no other sings of associated systemic disorder, such as Klippel-trénaunay syndrome or Proteus syndrome.

The authors report two cases of Brazilian children with most of the common syndromic features of Proteus syndrome, such as asymmetric overgrowth of tissues, skin abnormalities, hypotonia and mental retardation. In both patients, a refractory epilepsy, compatible with Ohtahara syndrome, as well as hemimegalencephaly, with asymmetric distribution of facial fat, were also diagnosed.

To cite: Pullicino R, Grech R. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013201541 DESCRIPTION We describe a case of Proteus syndrome in a 34-year-old man who started to notice growths over his left frontal and temporal regions about 15 years ago. An abdominal ultrasound confirmed splenomegaly which was palpable on clinical examination. A skull X-ray showed...

Klippel Trenaunay syndrome is a rare mixed vascular malformation characterized by a triad of port wine stain, varicose veins, and bony, soft tissue hypertrophy involving an extremity [1]. A rare case involving face and all the limbs is being reported. This is a case of interest also because of having clinical overlap with Proteus syndrome.

Marjorie J. Lindhurst1, Ji-an Wang2, Hadley M. Bloomhardt1, Alison M. Witkowski1, Larry N. Singh1, David P. Bick3, Michael J. Gambello4, Cynthia M. Powell5, Chyi-Chia Richard Lee6, Thomas N. Darling2, and Leslie G. Biesecker1 1National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA 2Department of Dermatology, Uniformed Services University of the Health Science...

A 50-year-old man was admitted with a complicated pneumonia. During his long-term inpatient stay, a plastic urinary catheter was positioned. A month after admission the patient’s urine became purple (Picture 1). The patient was apyretic and did not have lower urinary tract symptoms but was constipated. Urinalysis revealed pH 7.8, leucocyturia and negative nitrites. Urine culture isolated Proteu...

S ir Frederick Treves (1853-1923) is best known as the doctor and protector of the Elephant Man, Joseph Merrick (1862-1890) (Figure 1). Broadway plays, a movie, and several books have described Treves’ relationship with this horribly deformed man who is now considered to have had Proteus syndrome rather than the earlier hypothetical diagnosis of neurofibromatosis. Proteus syndrome is a rare dis...

The patient was a 19-year-old woman with chronic headache, hand tremor, and school difficulties. The examination revealed large subcutaneous nodules, epidermal nevus, gigantism of the feet, hypertrophy of the hemibody, and mild postural hand tremor. The magnetic resonance imaging (MRI) showed distortion in the morphology of cerebellar folia, increased size of the cerebellum, and foci hypersigna...

A 10-year old boy, product of a non-consanguineous parents presented with developmental delay and poorly controlled seizures. On examination he had features suggestive of atypical growth of the body. There were asymmetric overgrowth of the skull, downward slanting of the palpebral fissures with ptosis, an epibulbar dermoid in the right eye (Figure 1) and a bony tumour (hyperostosis) of the exte...