منابع مشابه
Proteus syndrome: A case report
The Proteus syndrome comprises an association of asymmetrical overgrowth of almost any part of the body, verrucous epidermal naevi, vascular malformations and lipoma-like subcutaneous hamartoma. Both sexes are affected with equal frequency and severity and it is not transmitted genetically. Here a 16-year-old man with asymmetric overgrowth of the extremities, macrodactyly, cerebriform hypertrop...
متن کاملProteus syndrome*
Proteus syndrome is a rare syndrome characterized by disproportionate overgrowth of limbs, multiple hamartomas, and vascular malformations. The cerebriform connective tissue nevi, also called cerebriform plantar hyperplasia, are present in most patients, and is the main characteristic of the syndrome. If present, even alone, they can be considered as a pathognomonic sign. This article reports a...
متن کاملProteus syndrome and immunodeficiency.
A 10 year old boy with Proteus syndrome presented with a pericardial effusion of unknown aetiology. Immunological investigation revealed low serum IgG and IgA, accompanied by low levels of specific antibodies to pneumococcal and haemophilus type B polysaccharides. Circulating lymphocyte surface marker profile revealed T and B cell lymphopenia. This is the first report of hypogammaglobulinaemia ...
متن کاملProteus syndrome: an update.
Proteus syndrome is a complex disorder consisting variably of disproportionate, asymmetric overgrowth of body parts; cerebriform connective tissue nevi; epidermal nevi; vascular malformations of the capillary, venous, and lymphatic types; and dysregulated adipose tissue. Serious complications may ensue, such as pulmonary embolism, cystic lung disease, and various neoplasms. Somatic mosaicism, l...
متن کاملGermline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
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...
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ژورنال
عنوان ژورنال: Pediatric Oncall
سال: 2015
ISSN: 0973-0966
DOI: 10.7199/ped.oncall.2015.1