Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), two hamartoma-tumour syndromes, and somatic PTEN alterations have been shown to participate, to a greater or lesser extent, in a wide variety of sporadic neoplasia. PTEN is a tumour suppressor and dual-specificity phosphatase which affects apoptosis via its lipid phosphatase activity in the phosphoin...

Beckwith-Wiedemann syndrome (BWS) is a congenital disorder of imprinting caused by epimutations and mutations affecting two imprinted loci on chromosome 11p15. Its clinical features are heterogeneous, including macrosomia, macroglossia, hemihyperplasia, abdominal wall defects, neonatal hypoglycemia, and increased risk of embryonal tumors such as Wilms tumor, adrenocortical carcinoma, hepatoblas...

Tuberculous Peritonitis and Laparotomy M. F. Dixon, M.B., and J. A. Davies, M.R.C.P. 674 Hospital Advisory Service G. W. Taylor, M.R.C.G.P ................. 674 Rh Immunization in Ruptured Tubal Pregnancy R. D. Barr, M.R.C.P ..................... 674 Thiocyanate Metabolism in Human Vitamin Bi Deficiency A. G. Freeman, F.R.C.P ................... 675 Children of Anaesthetists R. Wyatt, M.B., D.A...

INTRODUCTION Arthroscopic fixation of tibial spine fracture without damage to the growth plate is very important in patients with open physis. The present article describes a simple and effective technique being used for the first time to treat this condition. CASE REPORT A 16-year-old boy sustained avulsion fractures of tibial spine while playing. He was treated arthroscopically with excelle...

Hypomelanosis of I to [HI] or Incontinentia pigmenti achromians [OMIM no. 146150]. Ito first introduced the syndrome 1951 [1]. It is a rare neurocutaneous syndrome that involves mainly skin and nervous system symptoms in 75 % of cases and may be associated with multiple organ systems involvement including the head and face, eyes (microphthalmia, cataracts, optic atrophy, and retinal detachment)...

Beckwith-Wiedemann syndrome (BWS) is a model imprinting disorder resulting from mutations or epimutations affecting imprinted genes on chromosome 11p15.5. The classical clinical features of BWS are macroglossia, preand/or postnatal overgrowth, and anterior abdominal wall defects (umbilical hernia or exomphalos). Additional more variable features include hemihypertrophy, neonatal hypoglycaemia, ...

To our knowledge penile lymphoedema secondary to Proteus syndrome has not previously been reported. Hence we report a case of a 16-year-old male who was referred with features of right hemi-hypertrophy and severe lymphoedema affecting his scrotum and penis. He had previously undergone scrotal reduction surgery at the age of 13, but had since developed worsening penile oedema. His main concern w...

BACKGROUND The diagnostic criteria of Proteus syndrome include various lesions of localized overgrowth such as digital gigantism, hemihyperplasia with unilateral macrocephaly, epidermal nevus, and mesodermal hamartomas such as lipoma, lymphangioma, hemangioma, or fibroma. Hyperplasia of the plantar dermal tissue may result in a characteristic cerebriform appearance. However, hypoplastic lesions...

BeckwithWiedemann syndrome, characterized by the triad of omphalocele, macroglossia, and gigantism, has a population incidence estimated at 1/13,700. This is likely an underestimate, because individuals with milder phenotypes may not be diagnosed. Some cases of isolated hemihyperplasia may, in fact, represent BeckwithWiedemann syndrome with reduced expressivity. Additional clinical features of ...