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Clinical Profile of Overgrowth Syndromes Consistent with PROS (PIK3CA-Related Overgrowth Syndromes)—A Case Series
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 descri...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678549/ https://www.ncbi.nlm.nih.gov/pubmed/33235839 http://dx.doi.org/10.4103/idoj.IDOJ_520_19 |
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author | Mathew, Lydia George, Renu Sudhakar, Sniya Keshava, Shyamkumar N. Fouzia, N. A. |
author_facet | Mathew, Lydia George, Renu Sudhakar, Sniya Keshava, Shyamkumar N. Fouzia, N. A. |
author_sort | Mathew, Lydia |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7678549 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-76785492020-11-23 Clinical Profile of Overgrowth Syndromes Consistent with PROS (PIK3CA-Related Overgrowth Syndromes)—A Case Series Mathew, Lydia George, Renu Sudhakar, Sniya Keshava, Shyamkumar N. Fouzia, N. A. Indian Dermatol Online J Original Article 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. Wolters Kluwer - Medknow 2020-09-19 /pmc/articles/PMC7678549/ /pubmed/33235839 http://dx.doi.org/10.4103/idoj.IDOJ_520_19 Text en Copyright: © 2020 Indian Dermatology Online Journal http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Original Article Mathew, Lydia George, Renu Sudhakar, Sniya Keshava, Shyamkumar N. Fouzia, N. A. Clinical Profile of Overgrowth Syndromes Consistent with PROS (PIK3CA-Related Overgrowth Syndromes)—A Case Series |
title | Clinical Profile of Overgrowth Syndromes Consistent with PROS (PIK3CA-Related Overgrowth Syndromes)—A Case Series |
title_full | Clinical Profile of Overgrowth Syndromes Consistent with PROS (PIK3CA-Related Overgrowth Syndromes)—A Case Series |
title_fullStr | Clinical Profile of Overgrowth Syndromes Consistent with PROS (PIK3CA-Related Overgrowth Syndromes)—A Case Series |
title_full_unstemmed | Clinical Profile of Overgrowth Syndromes Consistent with PROS (PIK3CA-Related Overgrowth Syndromes)—A Case Series |
title_short | Clinical Profile of Overgrowth Syndromes Consistent with PROS (PIK3CA-Related Overgrowth Syndromes)—A Case Series |
title_sort | clinical profile of overgrowth syndromes consistent with pros (pik3ca-related overgrowth syndromes)—a case series |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678549/ https://www.ncbi.nlm.nih.gov/pubmed/33235839 http://dx.doi.org/10.4103/idoj.IDOJ_520_19 |
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