Trichothiodystrophy Without Retardation: One Patient Exhibiting Transient Combined Immunodeficiency Syndrome
- 1 November 1988
- journal article
- case report
- Published by Wiley in Pediatric Dermatology
- Vol. 5 (4) , 257-259
- https://doi.org/10.1111/j.1525-1470.1988.tb00899.x
Abstract
Two patients had trichothiodystrophy but did not exhibit the commonly associated findings such as mental retardation, increased sensitivity to sunlight, ichthyosis, decreased fertility in males, and short stature. One of the patients had a transient combined immunodeficiency syndrome in early childhood lasting four years, but has remained in good health untreated for four years. The association of these two rare findings in this patient should alert us to the possibility that others with trichothiodystrophy may exhibit immunodeficiency.Keywords
This publication has 7 references indexed in Scilit:
- PIBI(D)S syndrome: A new entity with defect of the deoxyribonucleic acid excision repair systemJournal of the American Academy of Dermatology, 1985
- Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failureJournal of the American Academy of Dermatology, 1984
- TrichothiodystrophyArchives of Dermatology, 1980
- Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complexArchives of Dermatology, 1980
- "Brittle" Hair With Short Stature, Intellectual Impairment and Decreased Fertility: An Autosomal Recessive Syndrome in an Amish KindredPediatrics, 1974
- A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur ContentJournal of Investigative Dermatology, 1970
- Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair.Archives of Disease in Childhood, 1968