title: Trichothiodystrophy in a child with occult learning disorder.
abstract: 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.
authors: National Skin Centre, Dermatology Hospital, Singapore.
authors: Hazel H
authors: HH
authors: Oon
authors: Agnes Wai
authors: AW
authors: Sze Chan
authors: Joyce Siong See
authors: JS
authors: Lee
authors: Yung Hian
authors: YH
authors: Leow
authors: Yoke Chin
authors: YC
authors: Giam
keywords: Brittle hair; learning disorder; nucleotide excision repair disease trichothiodystrophy
references: J Am Acad Dermatol. 2001 Jun;44(6):891-920; quiz 921-4
references: 11369901
references: Arch Dermatol. 1971 Jul;104(1):4-13
references: 5120162
references: Am J Med Genet A. 2009 Sep;149A(9):2020-30
references: 19681155
references: J Med Genet. 2008 Oct;45(10):609-21
references: 18603627
references: Pediatr Dermatol. 1998 Jan-Feb;15(1):31-4
references: 9496800
references: Dermatology. 1993;186(3):197-200
references: 8453147
references: Am J Hum Genet. 1997 Feb;60(2):320-9
references: 9012405
references: Nat Genet. 2004 Jul;36(7):714-9
references: 15220921
references: Am J Hum Genet. 1998 Oct;63(4):1036-48
references: 9758621
references: Arch Dermatol. 1980 Dec;116(12):1375-84
references: 7458366