Clinical profile of overgrowth syndromes consistent with PROS (PIK3CA-related overgrowth syndromes)—A case series

摘要

Context: 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. Aims: To detail the clinical profile of patients with presumptive PROS. Settings and Design: We conducted a retrospective study of 15 patients with focal overgrowth of the extremities or macrocephaly who presented to the department of dermatology at a tertiary care hospital in South India. Subjects and Methods: Data were collected through electronic medical records from July 2012 to April 2018 over 70 months. The criterion proposed by Keppler-Noreuil et al. was used for classifying them as presumptive PROS in the absence of genetic studies. Statistical Analysis Used: Descriptive analysis. Results: There were nine males and six females; mean age of 12.10 years (range: 8 months to 73 years) with clinical features consistent with PROS. There was a higher frequency of vascular malformations (9/15, 60%) and of epidermal nevi (7/15, 46.6%) than that reported in the literature. Unusual features included focal acrochordons, blaschkoid hypopigmentation and linear papillomatous growths in the oral mucosa. Conclusions: This study provides data on the clinical features of patients with PROS from the Indian subcontinent. In resource-poor settings, clinical criteria may be adequate for diagnosis due to restricted accessibility of technically challenging diagnostic tests.