I. Nnakenyi, Chioma Edoga, E. Nnakenyi, N. Iloanusi, C. Okwor
{"title":"一例罕见的高磷血症性肿瘤钙质沉着症发生于一名13岁的尼日利亚男孩","authors":"I. Nnakenyi, Chioma Edoga, E. Nnakenyi, N. Iloanusi, C. Okwor","doi":"10.4081/acbr.2023.322","DOIUrl":null,"url":null,"abstract":"Tumoral calcinosis is a rare disorder that presents with ectopic calcifications deposited at different periarticular soft tissue regions of the body- mostly hips, elbows and shoulders. It results from a relative deficiency of, or resistance to, the phosphate-regulating hormone - Fibroblast Growth Factor 23 (FGF23), due to gene mutations, causing hyperphosphatemia. We describe this condition in a 13 year old, Nigerian boy who presented with a 7 year history of multiple body swellings of firm to hard consistency. Laboratory investigations showed hyperphosphatemia with normal serum calcium, vitamin D and parathyroid hormone levels. Radiological and histological findings were consistent with tumoral calcinosis. Having had two previous surgeries to remove the lesions, he was now commenced on low phosphate diet and phosphate binders. It is important to differentiate tumoral calcinosis from other causes of pathological calcification using clinical and laboratory findings especially in environments where molecular genetic testing is not readily available.","PeriodicalId":251105,"journal":{"name":"Annals of Clinical and Biomedical Research","volume":"30 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A rare case of Hyperphosphatemic Tumoral Calcinosis in a 13 year old Nigerian boy\",\"authors\":\"I. Nnakenyi, Chioma Edoga, E. Nnakenyi, N. Iloanusi, C. Okwor\",\"doi\":\"10.4081/acbr.2023.322\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Tumoral calcinosis is a rare disorder that presents with ectopic calcifications deposited at different periarticular soft tissue regions of the body- mostly hips, elbows and shoulders. It results from a relative deficiency of, or resistance to, the phosphate-regulating hormone - Fibroblast Growth Factor 23 (FGF23), due to gene mutations, causing hyperphosphatemia. We describe this condition in a 13 year old, Nigerian boy who presented with a 7 year history of multiple body swellings of firm to hard consistency. Laboratory investigations showed hyperphosphatemia with normal serum calcium, vitamin D and parathyroid hormone levels. Radiological and histological findings were consistent with tumoral calcinosis. Having had two previous surgeries to remove the lesions, he was now commenced on low phosphate diet and phosphate binders. It is important to differentiate tumoral calcinosis from other causes of pathological calcification using clinical and laboratory findings especially in environments where molecular genetic testing is not readily available.\",\"PeriodicalId\":251105,\"journal\":{\"name\":\"Annals of Clinical and Biomedical Research\",\"volume\":\"30 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-06-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Clinical and Biomedical Research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4081/acbr.2023.322\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Clinical and Biomedical Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4081/acbr.2023.322","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A rare case of Hyperphosphatemic Tumoral Calcinosis in a 13 year old Nigerian boy
Tumoral calcinosis is a rare disorder that presents with ectopic calcifications deposited at different periarticular soft tissue regions of the body- mostly hips, elbows and shoulders. It results from a relative deficiency of, or resistance to, the phosphate-regulating hormone - Fibroblast Growth Factor 23 (FGF23), due to gene mutations, causing hyperphosphatemia. We describe this condition in a 13 year old, Nigerian boy who presented with a 7 year history of multiple body swellings of firm to hard consistency. Laboratory investigations showed hyperphosphatemia with normal serum calcium, vitamin D and parathyroid hormone levels. Radiological and histological findings were consistent with tumoral calcinosis. Having had two previous surgeries to remove the lesions, he was now commenced on low phosphate diet and phosphate binders. It is important to differentiate tumoral calcinosis from other causes of pathological calcification using clinical and laboratory findings especially in environments where molecular genetic testing is not readily available.