European Journal of Pediatrics

, Volume 141, Issue 3, pp 147–152 | Cite as

The tay syndrome (congenital ichthyosis with trichothiodystrophy)

  • R. Happle
  • H. Traupe
  • H. Gröbe
  • G. Bonsmann
Original Investigations


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.

Key words

Tay syndrome Ichthyosis Sulfur-deficient brittle hair Mental retardation Short stature 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Baden HP, Jackson CE, Weiss L, Jimbow K, Lee L, Kubilus J, Gold RJM (1976) The physicochemical properties of hair in the BIDS syndrome. Am J Hum Genet 28:514–521Google Scholar
  2. 2.
    Braun-Falco O, Ring J, Butenandt O, Selzle D, Landthaler M (1981) Ichthyosis vulgaris, Minderwuchs, Haardysplasie, Zahnanomalien, Immundefekte, psychomotorische Retardation und Resorptionsstörungen. Kasuistischer Bericht über zwei Geschwister. Hautarzt 33:67–74Google Scholar
  3. 3.
    Crovato F, Borrone C, Rebora A (1983) Trichothiodystrophy —BIDS, IBIDS and PIBIDS? Br J Dermatol 108:247Google Scholar
  4. 4.
    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: 201–207Google Scholar
  5. 5.
    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 2:309–317Google Scholar
  6. 6.
    Jorizzo JL, Atherton DJ, Crounse RG, Wells RS (1982) Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome). Br J Dermatol 106:705–710Google Scholar
  7. 7.
    Leupold D (1979) Ichthyosis congenita, katarakt, Schwachsinn, Ataxie, Osteosklerose und Abwehrdefekt — ein eigenständiges Syndrom? Monatsschr Kinderheilkd 127:307–308Google Scholar
  8. 8.
    McKusick VA (1983) Mendelian inheritance in man. Catalog of autosomal dominant, autosomal recessive, and X-linked phenotypes, 6th edn. Johns Hopkins University Press, Baltimore, London, p 749Google Scholar
  9. 9.
    Porter PS (1971) The genetics of human hair growth. Birth Defects, Original Article Series Vol VII, No. 8, pp 69–85Google Scholar
  10. 10.
    Price VH, Odom RB, Ward WH, Jones FT (1980) Trichothiodystrophy. Sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch Dermatol 116:1375–1384Google Scholar
  11. 11.
    Salfeld K, Lindley MJ (1963) Zur Frage der Merkmalskombination bei Ichthyosis vulgaris mit Bambushaarbildung und ektodermaler Dysplasie. Dermatol Wochenschr 147:118–128Google Scholar
  12. 12.
    Tay CH (1971) Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder. Arch Dermatol 104:4–13Google Scholar
  13. 13.
    Tay CH (1980) Personal communicationGoogle Scholar
  14. 14.
    Traupe H, Happle R (1983) Alopecia ichthyotica. A characteristic feature of congenital ichthyosis. Dermatologica (Basel) 167: 225–230Google Scholar

Copyright information

© Springer-Verlag 1984

Authors and Affiliations

  • R. Happle
    • 1
  • H. Traupe
    • 1
  • H. Gröbe
    • 2
  • G. Bonsmann
    • 1
  1. 1.Department of DermatologyUniversity of MünsterMünsterFederal Republic of Germany
  2. 2.Department of PediatricsUniversity of MünsterMünsterFederal Republic of Germany

Personalised recommendations