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Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy
| The first 150 words of the full text of this article appear below. |
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 and
XPB/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
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