Abstract
Trichothiodystrophy, or sulphur-deficient brittle hair, is a clinical marker for a syndrome that consists primarily of cystine (and hence sulphur)-deficient brittle hair, nail dysplasia, mental and physical retardation and decreased fertility. The radiological aspects of this syndrome have received scant mention in the literature. I describe a 5-year-old boy whose skeleton exhibits axial osteosclerosis and peripheral osteopenia which is similar to two other previously described cases.
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Pollitt RJ, Jenner FA, Davies M (1968) Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair. Arch Dis Child 43: 211
Jackson CE, Weiss L, Watson JHL (1974) Brittle hair with short stature, intellectual impairment and decreased fertility: An autosomal recessive syndrome in an Amish kindred. Pediatrics 54: 201
Leupold D (1979) Ichthyosis congenita, Katarakt, Schwachsinn, Ataxie, Osteosklerose und Abwehrdefekt — ein eigenständiges Syndrome? Monatsschr Kinderheilkd 127: 307
Price VH, Odom RB, Ward WH, Jones FT (1980) Trichothiodystrophy. Sulphur-deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch Dermatol 116: 1375
Arbisser AI, Scott CI Jr, Howell RR, Ong PS, Cox HL (1976) A syndrome manifested by brittle hair with morphological and biochemical abnormalities, developmental delay and normal stature. Birth Defects 12: 219
Jorizzo JL, Crounse RG, Wheeler CE Jr (1980) Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities. A link between the ichthyosis-associated and BIDS syndromes. J Am Acad Dermatol 2: 309
Brown AC, Belser RB, Crounse RG, Wehr RF (1970) A congenital hair defect: Trichoschisis with alternating birefringence and low sulfur content. J Invest Dermatol 54: 496
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Chapman, S. The trichothiodystrophy syndrome of Pollitt. Pediatr Radiol 18, 154–156 (1988). https://doi.org/10.1007/BF02387560
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DOI: https://doi.org/10.1007/BF02387560