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Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy
  1. * Victorian Clinical Genetics Service, Royal Children's Hospital, Melbourne, Victoria 3052, Australia
  2. Skin and Cancer Foundation, Melbourne, Victoria 3053, Australia
  3. UCSF Cancer Center, University of California, San Francisco, CA 94143-0808, USA
  1. Dr Gardner

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Editor—The trichothiodystrophies (TTD) are named primarily for the hair sulphur deficiency which is their most specific feature and which leads to brittleness of the hair. Other ectodermal tissues may be affected and typically the skin is ichthyotic and the nails dystrophic. Additionally, there may be a distinctive facies and physical and developmental retardation of varying degree of severity. Inheritance is autosomal recessive and at least three loci exist, of which two are known, the excision repair/transcription factor genes XPD/ERCC-2 andXPB/ERCC-3. We describe an 8 year old girl in whom the diagnosis of a mild and in some respects atypical form of TTD was made on the synthesis of clinical, pathological, and biochemical data. The genotypic basis of this clinical phenotype has yet to be established.

The patient was the second child of a dizygous twin pregnancy born to unrelated, healthy, white parents by emergency caesarean section at 32 weeks because of pre-eclampsia. The family history was unremarkable and her male co-twin was healthy. Birth weight was 2100 g (90th centile for this gestation). Birth length and head circumference were 51.5 cm and 32.5 cm respectively. The skin was dry and flaky from birth (but never “collodion”), and in using a towel her mother had to pat her dry, rather than to rub. Thickening of the palms and soles developed in the first year of life. The nails were brittle from birth. Hair growth has always been slow and she has never had a proper haircut, only trims. Desquamated cells from the external auditory canal failed to clear and she has required periodic syringing.

She was referred to our service at 5 years of age because of concerns related to persistent dermatitis, dermal photosensitivity suggested by easy burning in the sun, mild developmental delay, and distinctive facial …

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