PMID: 6538137Jan 1, 1984Paper

The Tay syndrome (congenital ichthyosis with trichothiodystrophy)

European Journal of Pediatrics
R HappleG Bonsmann

Abstract

We report a 5-year-old boy affected with the Tay syndrome, and give a review of 12 pertinent cases previously reported under various designations. The Tay syndrome is a distinct type of congenital ichthyosis characterized by a peculiar anomaly of hair growth which has been termed trichothiodystrophy. The hair shafts are extremely brittle, and they show alternating light and dark banding when examined microscopically between polarizing filters. Other features of this syndrome are low birth weight, short stature, mental retardation, delayed neuromuscular development and other CNS anomalies, dysplasia of nails, hypoplasia of subcutaneous fatty tissue, prematurely aged facial appearance, hypogonadism, cataracts, osteosclerosis, dysphonia, and increased susceptibility to infections. The syndrome is inherited as an autosomal recessive trait. We delineate the criteria for distinguishing this gene defect from other types of congenital ichthyosis associated with disturbed hair growth, as well as from other types of trichothiodystrophy which are not associated with ichthyosis.

References

Feb 1, 1983·The British Journal of Dermatology·F CrovatoA Rebora
Jun 1, 1982·The British Journal of Dermatology·J L JorizzoR S Wells

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Citations

Nov 1, 1991·Prenatal Diagnosis·J B SavaryM M Deminatti
Jan 1, 1988·Human Genetics·A Rebora, F Crovato
Apr 1, 2008·Indian Journal of Pediatrics·S D Jambhekar, A R Dhongade
Feb 1, 1985·Journal of the American Academy of Dermatology·D Van NesteF Vasseur
Oct 1, 2010·Brain : a Journal of Neurology·Marjan E SteenwegMarjo S van der Knaap
Nov 11, 2009·The Neurologist·Lívia Almeida DutraOrlando Graziani Povoas Barsottini
Sep 1, 1986·Pediatric Dermatology·H TraupeH P Bertram
Sep 1, 1989·Pediatric Dermatology·R J Motley, A Y Finlay
Jun 1, 1993·Pediatric Dermatology·S CalvieriR Rizzo
Dec 1, 1991·Acta paediatrica Scandinavica·H K BlomquistC Stecksén-Blicks
Jul 1, 2005·Molecular and Cellular Biology·Emmanuel CompeJean-Marc Egly
Apr 14, 1999·Journal of Neurology, Neurosurgery, and Psychiatry·O Hurko, T T Provost
Feb 29, 2008·Orphanet Journal of Rare Diseases·Olivier GouletJean-Pierre Cézard
May 1, 1990·Journal of the American Academy of Dermatology·P H Itin, M R Pittelkow
Jun 24, 2008·Journal of the American Academy of Dermatology·Amy S Cheng, Susan J Bayliss
Aug 15, 2009·American Journal of Medical Genetics. Part a·Fanny Morice-PicardAlain Taïeb
Jan 1, 1988·The Australasian Journal of Dermatology·J M GillespieM Rogers
Apr 18, 2006·Seminars in Cutaneous Medicine and Surgery·David A Whiting, Lady C Dy
Jul 1, 1992·Journal of Child Neurology·R RizzoL Di Gregorio
Jul 14, 2001·Journal of the European Academy of Dermatology and Venereology : JEADV·A RichettaS Calvieri

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