Open AccessTrichothiodystrophy in a child with occult learning disorder
Author(s) -
Hazel H. Oon,
Wai Sze Agnes Chan,
Joyce Siong See Lee,
Yung Hian Leow,
Yoke Chin Giam
Publication year - 2013
Publication title -
international journal of trichology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.494
H-Index - 22
eISSN - 0974-9241
pISSN - 0974-7753
DOI - 10.4103/0974-7753.114717
Subject(s) - genetic disorder , occult , pediatrics , girl , congenital disorder , medicine , dermatology , genetics , biology , pathology , disease , alternative medicine
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.