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CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities. This report deals with a characteristic phenot...

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Veröffentlicht in:	Anais brasileiros de dermatología 2016-05, Vol.91 (3), p.378
Hauptverfasser:	Panteliades, Manuela, Silva, Claudia Marcia Resende, Gontijo, Bernardo
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - diagnostic imaging Adipose Tissue - abnormalities Child, Preschool Humans Lipoma - diagnosis Lipoma - diagnostic imaging Magnetic Resonance Imaging Male Musculoskeletal Abnormalities - diagnosis Musculoskeletal Abnormalities - diagnostic imaging Nevus - diagnosis Nevus - diagnostic imaging Photography Vascular Malformations - diagnosis Vascular Malformations - diagnostic imaging
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Beschreibung
Zusammenfassung:	CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities. This report deals with a characteristic phenotype case, highlighting peculiar cutaneous and radiological changes.
ISSN:	1806-4841
DOI:	10.1590/abd1806-4841.20165897