sirolimus and Telangiectasis

sirolimus has been researched along with Telangiectasis* in 1 studies

Other Studies

1 other study(ies) available for sirolimus and Telangiectasis

Article	Year
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report. Pediatric dermatology, 2018, Volume: 35, Issue:3 A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation is described. This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term. Topics: Abnormalities, Multiple; Base Sequence; Bronchodilator Agents; Class I Phosphatidylinositol 3-Kinases; Diagnosis, Differential; Enteral Nutrition; Humans; Immunosuppressive Agents; Infant, Newborn; Lipoma; Male; Megalencephaly; Musculoskeletal Abnormalities; Mutation; Nevus; Phenotype; Respiration, Artificial; Sirolimus; Skin Diseases, Vascular; Telangiectasis; Vascular Malformations	2018

Article

Year

Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.

Pediatric dermatology, 2018, Volume: 35, Issue:3

A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation is described. This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.

Topics: Abnormalities, Multiple; Base Sequence; Bronchodilator Agents; Class I Phosphatidylinositol 3-Kinases; Diagnosis, Differential; Enteral Nutrition; Humans; Immunosuppressive Agents; Infant, Newborn; Lipoma; Male; Megalencephaly; Musculoskeletal Abnormalities; Mutation; Nevus; Phenotype; Respiration, Artificial; Sirolimus; Skin Diseases, Vascular; Telangiectasis; Vascular Malformations

2018