Keratitis, hepatitis, ichthyosis, and deafness

Report and review of KID syndrome

G. N. Wilson, R. H. Squires, A. G. Weinberg

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

A 14-year-old girl with ichthyosis and severe liver disease is compared to 35 reported cases of KID or Senter syndrome. Common manifestations such as ichthyosis (35/35 patients), sensorineural deafness (33/34), 'ectodermal dysplasia' (25/28), corneal abnormality (26/31) were present in the proposita, while less common manifestations such as chronic infections (15/20) and neuromuscular disease (12/35) were absent. Two families with vertical transmission and 28 sporadic cases are compatible with an autosomal dominant form of KID syndrome, while one inbred sibship with liver disease suggests the existence of an autosomal recessive form. The proposita was similar to the latter patients in having progressive cirrhosis necessitating liver transplantation; she also had short stature (10/35 patients) and mental retardation (3/35). Hepatic findings included micronodular cirrhosis, cholestasis, hyperplastic Kupffer cells, abundant Mallory's hyaline, copper accumulation without steatosis, and normal peroxisomes.

Original languageEnglish (US)
Pages (from-to)255-259
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume40
Issue number3
StatePublished - 1991

Fingerprint

Hepatitis
Ichthyosis
Liver Diseases
Fibrosis
Ectodermal Dysplasia
Neuromuscular Diseases
Hyalin
Peroxisomes
Kupffer Cells
Cholestasis
Deafness
Intellectual Disability
Liver Transplantation
Copper
Liver
Infection
Keratitis-Ichthyosis-Deafness Syndrome
Keratitis, Ichthyosis, and Deafness (KID) Syndrome

Keywords

  • hepatocellular disease
  • keratoconus
  • MCA/MR syndrome
  • Senter syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Keratitis, hepatitis, ichthyosis, and deafness : Report and review of KID syndrome. / Wilson, G. N.; Squires, R. H.; Weinberg, A. G.

In: American Journal of Medical Genetics, Vol. 40, No. 3, 1991, p. 255-259.

Research output: Contribution to journalArticle

Wilson, GN, Squires, RH & Weinberg, AG 1991, 'Keratitis, hepatitis, ichthyosis, and deafness: Report and review of KID syndrome', American Journal of Medical Genetics, vol. 40, no. 3, pp. 255-259.
Wilson, G. N. ; Squires, R. H. ; Weinberg, A. G. / Keratitis, hepatitis, ichthyosis, and deafness : Report and review of KID syndrome. In: American Journal of Medical Genetics. 1991 ; Vol. 40, No. 3. pp. 255-259.
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