Open AccessClinical profile of overgrowth syndromes consistent with PROS (PIK3CA-related overgrowth syndromes)—A case series
Author(s) -
Lydia Mathew,
Renu George,
Sniya Sudhakar,
Shyamkumar N. Keshava,
Fouzia Na
Publication year - 2020
Publication title -
indian dermatology online journal
Language(s) - English
Resource type - Journals
eISSN - 2249-5673
pISSN - 2229-5178
DOI - 10.4103/idoj.idoj_520_19
Subject(s) - medicine , hypopigmentation , dermatology , macrocephaly , proteus syndrome , retrospective cohort study , medical record , pediatrics , pathology , radiology
PIK3CA -related overgrowth syndrome (PROS) is characterized by focal and disproportionate growth of acral body structures in a mosaic pattern with varied phenotypes. Clinical diagnostic criteria are available and testing of the mutation is recommended for diagnosis. Cutaneous features described in these conditions include epidermal nevi and vascular malformations which form part of the diagnostic criteria.