Open AccessCloves syndrome: A rare disorder of overgrowth with unusual features – An uncommon phenotype?
Author(s) -
Vikram K. Mahajan,
Mrinal Gupta,
Pushpinder S Chauhan,
Karaninder S Mehta
Publication year - 2019
Publication title -
indian dermatology online journal
Language(s) - English
Resource type - Journals
eISSN - 2249-5673
pISSN - 2229-5178
DOI - 10.4103/idoj.idoj_418_18
Subject(s) - medicine , proteus syndrome , craniofacial , hypoplasia , ptosis , differential diagnosis , ventriculomegaly , pathology , magnetic resonance imaging , dysplasia , hemihypertrophy , anatomy , dermatology , surgery , radiology , pregnancy , fetus , genetics , psychiatry , biology
CLOVES syndrome characterized by C ongenital L ipomatous O vergrowth, V ascular malformations, E pidermal nevi, and S keletal anomalies is a recently described sporadic syndrome from postzygotic activating mutations in PIK3CA . This 3-year-old boy, born to nonconsanguineous and healthy parents, had epidermal verrucous nevus, lower limb length discrepancy and bilateral genuvalgum, anterior abdominal wall lipomatous mass, central beaking of L2 and L3, and fibrous dysplasia of the left frontal bone. Ocular and dental abnormalities (ptosis, esotropia, delayed canine eruption, dental hypoplasia), ipsilateral asymmetrical deformity of skull, and large left cerebral hemisphere with mild ipsilateral ventriculomegaly were peculiar to him denoting an uncommon phenotype. The parents did not consent for magnetic resonance imaging and genetic studies because of financial constraints. The CLOVES syndrome has emerged as an uncommon yet distinct clinical entity with some phenotypic variations. Its diagnosis is usually from cutaneous, truncal, spinal, and foot anomalies in clinical and radioimaging studies. Proteus syndrome remains the major differential.