Nada Khalil, James Carton, Carolina P. Fernandez, Neil P. Patel
{"title":"两个女性兄弟姐妹发生的头皮油肿:遗传作用的进一步证据","authors":"Nada Khalil, James Carton, Carolina P. Fernandez, Neil P. Patel","doi":"10.1159/000534698","DOIUrl":null,"url":null,"abstract":"<b><i>Introduction:</i></b> Lipedematous scalp (LS) is a rare disorder characterized by thickening of the adipose subcutaneous scalp layer without associated hair loss. To date, there have been fewer than 100 reported cases of LS. LS occurring in siblings has not been previously reported. <b><i>Case Presentation:</i></b> We present a 58-year-old and 63-year-old pair of black Caribbean female siblings with LS. Scalp thickness on ultrasound of the vertex in each case was 12 mm and 11 mm from skin to periosteum, respectively (normal range: 5–6 mm). Histopathological analysis in the younger sibling demonstrated prominent fat, high in the dermis around hair follicles, with follicular distortion and focal perifollicular fibrosis. Co-morbidities in the younger sibling were obesity (body mass index [BMI] 39.0), paranoid schizophrenia, and bipolar disorder; the older sibling was overweight (BMI 26.0) with co-morbidities of hypercholesterolemia, type 2 diabetes mellitus, hypomania, and migraines; both siblings were taking psychiatric medication. <b><i>Conclusion:</i></b> We present an unusual case of LS in a pair of female siblings, adding to the limited existing evidence that there may be a genetic role in the pathogenesis of LS. Furthermore, both siblings in this case had psychiatric co-morbidities and were taking psychiatric medication, which have not been previously identified as associations of LS.","PeriodicalId":21844,"journal":{"name":"Skin Appendage Disorders","volume":"85 10","pages":"0"},"PeriodicalIF":1.4000,"publicationDate":"2023-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Lipedematous Scalp Occurring in Two Female Siblings: Further Evidence for a Genetic Role\",\"authors\":\"Nada Khalil, James Carton, Carolina P. Fernandez, Neil P. Patel\",\"doi\":\"10.1159/000534698\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<b><i>Introduction:</i></b> Lipedematous scalp (LS) is a rare disorder characterized by thickening of the adipose subcutaneous scalp layer without associated hair loss. To date, there have been fewer than 100 reported cases of LS. LS occurring in siblings has not been previously reported. <b><i>Case Presentation:</i></b> We present a 58-year-old and 63-year-old pair of black Caribbean female siblings with LS. Scalp thickness on ultrasound of the vertex in each case was 12 mm and 11 mm from skin to periosteum, respectively (normal range: 5–6 mm). Histopathological analysis in the younger sibling demonstrated prominent fat, high in the dermis around hair follicles, with follicular distortion and focal perifollicular fibrosis. Co-morbidities in the younger sibling were obesity (body mass index [BMI] 39.0), paranoid schizophrenia, and bipolar disorder; the older sibling was overweight (BMI 26.0) with co-morbidities of hypercholesterolemia, type 2 diabetes mellitus, hypomania, and migraines; both siblings were taking psychiatric medication. <b><i>Conclusion:</i></b> We present an unusual case of LS in a pair of female siblings, adding to the limited existing evidence that there may be a genetic role in the pathogenesis of LS. Furthermore, both siblings in this case had psychiatric co-morbidities and were taking psychiatric medication, which have not been previously identified as associations of LS.\",\"PeriodicalId\":21844,\"journal\":{\"name\":\"Skin Appendage Disorders\",\"volume\":\"85 10\",\"pages\":\"0\"},\"PeriodicalIF\":1.4000,\"publicationDate\":\"2023-11-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Skin Appendage Disorders\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1159/000534698\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"DERMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Skin Appendage Disorders","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000534698","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"DERMATOLOGY","Score":null,"Total":0}
Lipedematous Scalp Occurring in Two Female Siblings: Further Evidence for a Genetic Role
Introduction: Lipedematous scalp (LS) is a rare disorder characterized by thickening of the adipose subcutaneous scalp layer without associated hair loss. To date, there have been fewer than 100 reported cases of LS. LS occurring in siblings has not been previously reported. Case Presentation: We present a 58-year-old and 63-year-old pair of black Caribbean female siblings with LS. Scalp thickness on ultrasound of the vertex in each case was 12 mm and 11 mm from skin to periosteum, respectively (normal range: 5–6 mm). Histopathological analysis in the younger sibling demonstrated prominent fat, high in the dermis around hair follicles, with follicular distortion and focal perifollicular fibrosis. Co-morbidities in the younger sibling were obesity (body mass index [BMI] 39.0), paranoid schizophrenia, and bipolar disorder; the older sibling was overweight (BMI 26.0) with co-morbidities of hypercholesterolemia, type 2 diabetes mellitus, hypomania, and migraines; both siblings were taking psychiatric medication. Conclusion: We present an unusual case of LS in a pair of female siblings, adding to the limited existing evidence that there may be a genetic role in the pathogenesis of LS. Furthermore, both siblings in this case had psychiatric co-morbidities and were taking psychiatric medication, which have not been previously identified as associations of LS.