TY - JOUR
T1 - Keratitis, hepatitis, ichthyosis, and deafness
T2 - Report and review of KID syndrome
AU - Wilson, G. N.
AU - Squires, R. H.
AU - Weinberg, A. G.
PY - 1991
Y1 - 1991
N2 - 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.
AB - 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.
KW - MCA/MR syndrome
KW - Senter syndrome
KW - hepatocellular disease
KW - keratoconus
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U2 - 10.1002/ajmg.1320400302
DO - 10.1002/ajmg.1320400302
M3 - Article
C2 - 1951425
AN - SCOPUS:0025737124
SN - 0148-7299
VL - 40
SP - 255
EP - 259
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 3
ER -