A Young Boy with Brittle Hair
Trichothiodystrophy (TTD) is a rare multisystem disorder with an autosomal recessive mode of inheritance. TTD presentations vary from only hair abnormalities like brittle, fragile hair to physical and mental retardation. Mutations of DNA repair genes have been identified as responsible for the disea...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2022-06-01
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| Series: | Case Reports in Dermatology |
| Subjects: | |
| Online Access: | https://www.karger.com/Article/FullText/525383 |
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| author | Nassim Tootoonchi Vahideh Azhari Zahra Razavi Shadab Seraji Nika Kianfar Hamidreza Mahmoudi Maryam Daneshpazooh |
| author_facet | Nassim Tootoonchi Vahideh Azhari Zahra Razavi Shadab Seraji Nika Kianfar Hamidreza Mahmoudi Maryam Daneshpazooh |
| author_sort | Nassim Tootoonchi |
| collection | DOAJ |
| description | Trichothiodystrophy (TTD) is a rare multisystem disorder with an autosomal recessive mode of inheritance. TTD presentations vary from only hair abnormalities like brittle, fragile hair to physical and mental retardation. Mutations of DNA repair genes have been identified as responsible for the disease. A 5-year-old boy presented with sparse, short, and brittle hair to our clinic. He was born to consanguineous parents. Trichoscopy and light microscopy revealed broken hairs with no specific shaft defect. Due to the inaccessibility of the polarized microscopy, a bedside technique was employed. We used a polarized dermatoscope and a mirror in order of achieving transillumination of the hair shafts, which revealed striking bright and dark bands. These bands are referred to as “tiger tail,” which is the pathognomonic sign of TTD. Subsequent polarizing microscopy also confirmed the clinical diagnosis. This highlighted a feasible method for observing the tiger tail, which expanded the known clinical diagnostic tools of TTD. |
| first_indexed | 2024-12-12T00:14:17Z |
| format | Article |
| id | doaj.art-fbb580e8b83049c6a86025d79e7ed2f8 |
| institution | Directory Open Access Journal |
| issn | 1662-6567 |
| language | English |
| last_indexed | 2024-12-12T00:14:17Z |
| publishDate | 2022-06-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Dermatology |
| spelling | doaj.art-fbb580e8b83049c6a86025d79e7ed2f82022-12-22T00:44:53ZengKarger PublishersCase Reports in Dermatology1662-65672022-06-0114218418710.1159/000525383525383A Young Boy with Brittle HairNassim Tootoonchi0Vahideh Azhari1https://orcid.org/0000-0002-2982-5888Zahra Razavi2Shadab Seraji3Nika Kianfar4Hamidreza Mahmoudi5Maryam Daneshpazooh6Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, IranDepartment of Dermatopathology, Razi Hospital, Tehran University of Medical Sciences, Tehran, IranDepartment of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, IranDepartment of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, IranDepartment of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, IranDepartment of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, IranDepartment of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, IranTrichothiodystrophy (TTD) is a rare multisystem disorder with an autosomal recessive mode of inheritance. TTD presentations vary from only hair abnormalities like brittle, fragile hair to physical and mental retardation. Mutations of DNA repair genes have been identified as responsible for the disease. A 5-year-old boy presented with sparse, short, and brittle hair to our clinic. He was born to consanguineous parents. Trichoscopy and light microscopy revealed broken hairs with no specific shaft defect. Due to the inaccessibility of the polarized microscopy, a bedside technique was employed. We used a polarized dermatoscope and a mirror in order of achieving transillumination of the hair shafts, which revealed striking bright and dark bands. These bands are referred to as “tiger tail,” which is the pathognomonic sign of TTD. Subsequent polarizing microscopy also confirmed the clinical diagnosis. This highlighted a feasible method for observing the tiger tail, which expanded the known clinical diagnostic tools of TTD.https://www.karger.com/Article/FullText/525383trichothiodystrophypolarized lightbrittle hairautosomal recessive |
| spellingShingle | Nassim Tootoonchi Vahideh Azhari Zahra Razavi Shadab Seraji Nika Kianfar Hamidreza Mahmoudi Maryam Daneshpazooh A Young Boy with Brittle Hair Case Reports in Dermatology trichothiodystrophy polarized light brittle hair autosomal recessive |
| title | A Young Boy with Brittle Hair |
| title_full | A Young Boy with Brittle Hair |
| title_fullStr | A Young Boy with Brittle Hair |
| title_full_unstemmed | A Young Boy with Brittle Hair |
| title_short | A Young Boy with Brittle Hair |
| title_sort | young boy with brittle hair |
| topic | trichothiodystrophy polarized light brittle hair autosomal recessive |
| url | https://www.karger.com/Article/FullText/525383 |
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