Dermoscopy deduced “neither pilus nor pores”: Christ-siemens-touraine syndrome: A case report
Ectodermal dysplasia (ED) is used to define a group of inherited disorders characterized by the presence of abnormalities in two or more ectodermal derived structures, including hair, teeth, nails, or sweat glands. A 2-month-old boy presented with complaints of reduced scalp hair growth and loss of...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2020-01-01
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| Series: | Indian Journal of Paediatric Dermatology |
| Subjects: | |
| Online Access: | http://www.ijpd.in/article.asp?issn=2319-7250;year=2020;volume=21;issue=3;spage=224;epage=228;aulast=Jaju |
| _version_ | 1818055282493751296 |
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| author | Priyanka Suresh Jaju Mahajabeen Madarkar Balachandra S Ankad Aakash Gupta |
| author_facet | Priyanka Suresh Jaju Mahajabeen Madarkar Balachandra S Ankad Aakash Gupta |
| author_sort | Priyanka Suresh Jaju |
| collection | DOAJ |
| description | Ectodermal dysplasia (ED) is used to define a group of inherited disorders characterized by the presence of abnormalities in two or more ectodermal derived structures, including hair, teeth, nails, or sweat glands. A 2-month-old boy presented with complaints of reduced scalp hair growth and loss of eyebrows since birth. He had a history of recurrent high fever and had been admitted twice for the same. Clinical examination of the patient revealed a fine, sparse, light-colored, short and dry hair over the scalp, with the absence of eyebrows, and eyelashes. The skin was smooth, dry with a prominent forehead and protuberant lips. Growth and developmental history were not significant. Trichoscopy showed absence or markedly reduced number of white dots. It corresponded to a finding of hypoplastic follicles with the absence of eccrine and sebaceous glands; these findings were consistent with histopathology. Dermoscopy is a noninvasive technique which aids in the clinical diagnosis of Christ-Siemens-Touraine syndrome by correlating clinical features histopathologically. |
| first_indexed | 2024-12-10T12:10:28Z |
| format | Article |
| id | doaj.art-22a4fa9b30dc400595f85cd95ad1011c |
| institution | Directory Open Access Journal |
| issn | 2319-7250 |
| language | English |
| last_indexed | 2024-12-10T12:10:28Z |
| publishDate | 2020-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Paediatric Dermatology |
| spelling | doaj.art-22a4fa9b30dc400595f85cd95ad1011c2022-12-22T01:49:23ZengWolters Kluwer Medknow PublicationsIndian Journal of Paediatric Dermatology2319-72502020-01-0121322422810.4103/ijpd.IJPD_115_18Dermoscopy deduced “neither pilus nor pores”: Christ-siemens-touraine syndrome: A case reportPriyanka Suresh JajuMahajabeen MadarkarBalachandra S AnkadAakash GuptaEctodermal dysplasia (ED) is used to define a group of inherited disorders characterized by the presence of abnormalities in two or more ectodermal derived structures, including hair, teeth, nails, or sweat glands. A 2-month-old boy presented with complaints of reduced scalp hair growth and loss of eyebrows since birth. He had a history of recurrent high fever and had been admitted twice for the same. Clinical examination of the patient revealed a fine, sparse, light-colored, short and dry hair over the scalp, with the absence of eyebrows, and eyelashes. The skin was smooth, dry with a prominent forehead and protuberant lips. Growth and developmental history were not significant. Trichoscopy showed absence or markedly reduced number of white dots. It corresponded to a finding of hypoplastic follicles with the absence of eccrine and sebaceous glands; these findings were consistent with histopathology. Dermoscopy is a noninvasive technique which aids in the clinical diagnosis of Christ-Siemens-Touraine syndrome by correlating clinical features histopathologically.http://www.ijpd.in/article.asp?issn=2319-7250;year=2020;volume=21;issue=3;spage=224;epage=228;aulast=Jajuchrist-siemens-touraine syndromedermoscopyectodermal dysplasiageneticspediatric dermatology |
| spellingShingle | Priyanka Suresh Jaju Mahajabeen Madarkar Balachandra S Ankad Aakash Gupta Dermoscopy deduced “neither pilus nor pores”: Christ-siemens-touraine syndrome: A case report Indian Journal of Paediatric Dermatology christ-siemens-touraine syndrome dermoscopy ectodermal dysplasia genetics pediatric dermatology |
| title | Dermoscopy deduced “neither pilus nor pores”: Christ-siemens-touraine syndrome: A case report |
| title_full | Dermoscopy deduced “neither pilus nor pores”: Christ-siemens-touraine syndrome: A case report |
| title_fullStr | Dermoscopy deduced “neither pilus nor pores”: Christ-siemens-touraine syndrome: A case report |
| title_full_unstemmed | Dermoscopy deduced “neither pilus nor pores”: Christ-siemens-touraine syndrome: A case report |
| title_short | Dermoscopy deduced “neither pilus nor pores”: Christ-siemens-touraine syndrome: A case report |
| title_sort | dermoscopy deduced neither pilus nor pores christ siemens touraine syndrome a case report |
| topic | christ-siemens-touraine syndrome dermoscopy ectodermal dysplasia genetics pediatric dermatology |
| url | http://www.ijpd.in/article.asp?issn=2319-7250;year=2020;volume=21;issue=3;spage=224;epage=228;aulast=Jaju |
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