| CASE REPORT |
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| Year : 2013 | Volume
: 5
| Issue : 1 | Page : 35-37 |
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Trichothiodystrophy in a child with occult learning disorder
Hazel H Oon, Agnes Wai Sze Chan, Joyce Siong See Lee, Yung Hian Leow, Yoke Chin Giam
National Skin Centre, Dermatology Hospital, Singapore
Correspondence Address:
Agnes Wai Sze Chan
National Skin Centre, 1 Mandalay Road, Singapore 308205
Singapore
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0974-7753.114717
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Trichothiodystrophy (TTD) is an autosomal recessive condition characterized by brittle and sparse sulfur deficient hair. The disorder is due to a known genetic mutation in DNA nucleotide excision repair (NER) in up to 83% of cases. We describe a 13-month-old girl presenting with hair fragility and hair loss since age 3 months, and discuss the overlap between TTD and other NER diseases. This case report highlights the importance of early diagnosis of occult learning disorder in young children with TTD and the need for early assessment and involvement of multidisciplinary team to target the child's educational needs. |
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