Ioannis Kyriakidis, Iordanis Pelagiadis, Nikolaos Katzilakis, Eftichia Stiakaki
{"title":"大指趾的方法：一个病例报告和诊断算法的综合征和孤立形式。","authors":"Ioannis Kyriakidis, Iordanis Pelagiadis, Nikolaos Katzilakis, Eftichia Stiakaki","doi":"10.3390/pediatric17020032","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Macrodactyly (megalodactyly or digital gigantism) is a rare condition of overgrowth affecting one or more fingers or toes.</p><p><strong>Methods: </strong>We report a case of a 16-year-old Caucasian male with macrodactyly, lipomas, nevi, dysmorphic features, and autism. The clinical suspicion for a Proteus-like syndrome was high.</p><p><strong>Results: </strong>Targeted <i>PIK3CA</i>, <i>AKT1</i>, and <i>PTEN</i> sequencing for the affected tissue was negative. Subsequent genetic testing revealed a 16p11.2 duplication along with a heterozygous pathogenic variant in <i>PRRT2</i> (not causally associated with digit malformation).</p><p><strong>Conclusions: </strong>The clinical management of syndromic macrodactyly is well described by consensus guidelines, but isolated macrodactyly also needs pediatricians' attention and warrants a multidisciplinary approach. After reviewing the literature, a diagnostic algorithm for the approach and differential diagnosis of macrodactyly is provided. Phenotypes associated with PI3K/AKT/mTOR pathway mutations (including PIK3CA-related overgrowth spectrum PROS) are described. Late effects, follow-up schedules, and surveillance for cancer are discussed.</p>","PeriodicalId":45251,"journal":{"name":"Pediatric Reports","volume":"17 2","pages":""},"PeriodicalIF":1.4000,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11932304/pdf/","citationCount":"0","resultStr":"{\"title\":\"Approach to Macrodactyly: A Case Report and Diagnostic Algorithm for Syndromic and Isolated Forms.\",\"authors\":\"Ioannis Kyriakidis, Iordanis Pelagiadis, Nikolaos Katzilakis, Eftichia Stiakaki\",\"doi\":\"10.3390/pediatric17020032\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Macrodactyly (megalodactyly or digital gigantism) is a rare condition of overgrowth affecting one or more fingers or toes.</p><p><strong>Methods: </strong>We report a case of a 16-year-old Caucasian male with macrodactyly, lipomas, nevi, dysmorphic features, and autism. The clinical suspicion for a Proteus-like syndrome was high.</p><p><strong>Results: </strong>Targeted <i>PIK3CA</i>, <i>AKT1</i>, and <i>PTEN</i> sequencing for the affected tissue was negative. Subsequent genetic testing revealed a 16p11.2 duplication along with a heterozygous pathogenic variant in <i>PRRT2</i> (not causally associated with digit malformation).</p><p><strong>Conclusions: </strong>The clinical management of syndromic macrodactyly is well described by consensus guidelines, but isolated macrodactyly also needs pediatricians' attention and warrants a multidisciplinary approach. After reviewing the literature, a diagnostic algorithm for the approach and differential diagnosis of macrodactyly is provided. Phenotypes associated with PI3K/AKT/mTOR pathway mutations (including PIK3CA-related overgrowth spectrum PROS) are described. Late effects, follow-up schedules, and surveillance for cancer are discussed.</p>\",\"PeriodicalId\":45251,\"journal\":{\"name\":\"Pediatric Reports\",\"volume\":\"17 2\",\"pages\":\"\"},\"PeriodicalIF\":1.4000,\"publicationDate\":\"2025-03-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11932304/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3390/pediatric17020032\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3390/pediatric17020032","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
Approach to Macrodactyly: A Case Report and Diagnostic Algorithm for Syndromic and Isolated Forms.
Background: Macrodactyly (megalodactyly or digital gigantism) is a rare condition of overgrowth affecting one or more fingers or toes.
Methods: We report a case of a 16-year-old Caucasian male with macrodactyly, lipomas, nevi, dysmorphic features, and autism. The clinical suspicion for a Proteus-like syndrome was high.
Results: Targeted PIK3CA, AKT1, and PTEN sequencing for the affected tissue was negative. Subsequent genetic testing revealed a 16p11.2 duplication along with a heterozygous pathogenic variant in PRRT2 (not causally associated with digit malformation).
Conclusions: The clinical management of syndromic macrodactyly is well described by consensus guidelines, but isolated macrodactyly also needs pediatricians' attention and warrants a multidisciplinary approach. After reviewing the literature, a diagnostic algorithm for the approach and differential diagnosis of macrodactyly is provided. Phenotypes associated with PI3K/AKT/mTOR pathway mutations (including PIK3CA-related overgrowth spectrum PROS) are described. Late effects, follow-up schedules, and surveillance for cancer are discussed.
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