Ichthyosis and neutral lipid storage disease

M. L. Williams, T. K. Koch, J. J. O'Donnell, P. H. Frost, L. B. Epstein, W. S. Grizzard, C. J. Epstein

Research output: Contribution to journalArticle

56 Citations (Scopus)

Abstract

Four members of a consanguineous middle eastern family had a lipid storage disease characterized by congenital ichthyosiform erythroderma, neurosensory deafness, cataracts, mild myopathy, and leukocyte vacuoles. These patients are similar to several others recently reported and represent a unique disorder of lipid metabolism. The clinical and biochemical manifestations of this lipid storage disease are reviewed. Evidence is presented that the disorder is inherited as an autosomal recessive trait, and that heterozygotes may be detected by the presence of vacuoles within circulating eosinophils.

Original languageEnglish (US)
Pages (from-to)711-726
Number of pages16
JournalAmerican Journal of Medical Genetics
Volume20
Issue number4
DOIs
StatePublished - 1985

Fingerprint

Ichthyosis
Vacuoles
Congenital Ichthyosiform Erythroderma
Lipid Metabolism Disorders
Lipids
Deafness
Muscular Diseases
Heterozygote
Eosinophils
Cataract
Leukocytes

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Williams, M. L., Koch, T. K., O'Donnell, J. J., Frost, P. H., Epstein, L. B., Grizzard, W. S., & Epstein, C. J. (1985). Ichthyosis and neutral lipid storage disease. American Journal of Medical Genetics, 20(4), 711-726. https://doi.org/10.1002/ajmg.1320200417

Ichthyosis and neutral lipid storage disease. / Williams, M. L.; Koch, T. K.; O'Donnell, J. J.; Frost, P. H.; Epstein, L. B.; Grizzard, W. S.; Epstein, C. J.

In: American Journal of Medical Genetics, Vol. 20, No. 4, 1985, p. 711-726.

Research output: Contribution to journalArticle

Williams, ML, Koch, TK, O'Donnell, JJ, Frost, PH, Epstein, LB, Grizzard, WS & Epstein, CJ 1985, 'Ichthyosis and neutral lipid storage disease', American Journal of Medical Genetics, vol. 20, no. 4, pp. 711-726. https://doi.org/10.1002/ajmg.1320200417
Williams ML, Koch TK, O'Donnell JJ, Frost PH, Epstein LB, Grizzard WS et al. Ichthyosis and neutral lipid storage disease. American Journal of Medical Genetics. 1985;20(4):711-726. https://doi.org/10.1002/ajmg.1320200417
Williams, M. L. ; Koch, T. K. ; O'Donnell, J. J. ; Frost, P. H. ; Epstein, L. B. ; Grizzard, W. S. ; Epstein, C. J. / Ichthyosis and neutral lipid storage disease. In: American Journal of Medical Genetics. 1985 ; Vol. 20, No. 4. pp. 711-726.
@article{8d452b66729e4d7193bfa4449146bfcc,
title = "Ichthyosis and neutral lipid storage disease",
abstract = "Four members of a consanguineous middle eastern family had a lipid storage disease characterized by congenital ichthyosiform erythroderma, neurosensory deafness, cataracts, mild myopathy, and leukocyte vacuoles. These patients are similar to several others recently reported and represent a unique disorder of lipid metabolism. The clinical and biochemical manifestations of this lipid storage disease are reviewed. Evidence is presented that the disorder is inherited as an autosomal recessive trait, and that heterozygotes may be detected by the presence of vacuoles within circulating eosinophils.",
author = "Williams, {M. L.} and Koch, {T. K.} and O'Donnell, {J. J.} and Frost, {P. H.} and Epstein, {L. B.} and Grizzard, {W. S.} and Epstein, {C. J.}",
year = "1985",
doi = "10.1002/ajmg.1320200417",
language = "English (US)",
volume = "20",
pages = "711--726",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - Ichthyosis and neutral lipid storage disease

AU - Williams, M. L.

AU - Koch, T. K.

AU - O'Donnell, J. J.

AU - Frost, P. H.

AU - Epstein, L. B.

AU - Grizzard, W. S.

AU - Epstein, C. J.

PY - 1985

Y1 - 1985

N2 - Four members of a consanguineous middle eastern family had a lipid storage disease characterized by congenital ichthyosiform erythroderma, neurosensory deafness, cataracts, mild myopathy, and leukocyte vacuoles. These patients are similar to several others recently reported and represent a unique disorder of lipid metabolism. The clinical and biochemical manifestations of this lipid storage disease are reviewed. Evidence is presented that the disorder is inherited as an autosomal recessive trait, and that heterozygotes may be detected by the presence of vacuoles within circulating eosinophils.

AB - Four members of a consanguineous middle eastern family had a lipid storage disease characterized by congenital ichthyosiform erythroderma, neurosensory deafness, cataracts, mild myopathy, and leukocyte vacuoles. These patients are similar to several others recently reported and represent a unique disorder of lipid metabolism. The clinical and biochemical manifestations of this lipid storage disease are reviewed. Evidence is presented that the disorder is inherited as an autosomal recessive trait, and that heterozygotes may be detected by the presence of vacuoles within circulating eosinophils.

UR - http://www.scopus.com/inward/record.url?scp=0021948803&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0021948803&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1320200417

DO - 10.1002/ajmg.1320200417

M3 - Article

C2 - 3993689

AN - SCOPUS:0021948803

VL - 20

SP - 711

EP - 726

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 4

ER -