| CASE REPORT |
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| Year : 2018 | Volume
: 10
| Issue : 3 | Page : 135-137 |
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Trichothiodystrophy without associated neuroectodermal features in two siblings
Jasleen Kaur, Mala Bhalla, Gurvinder Pal Thami
Department of Dermatology, Government Medical College and Hospital, Chandigarh, India
Correspondence Address:
Dr. Jasleen Kaur
Department of Dermatology, D- Block, 5th Floor, Government Medical College and Hospital, Sector-32C, Chandigarh
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/ijt.ijt_63_17
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Trichothiodystrophy (TTD) is characterized by the common feature of sulfur-deficient brittle hair associated with a constellation of neuroectodermal symptoms. There is a wide phenotypic variation in the severity; ranging from isolated hair defect to multiple neuroectodermal symptoms such as photosensitivity, ichthyosis, intellectual impairment, decreased fertility, and short stature. This case report describes TTD in two sisters with only hair fragility and no other associated feature. This case highlights the variable clinical presentation of TTD and the need for regular follow-up in such patients for an early detection of any neurological, physical, and sexual impairment.
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