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Ichthyosis

Abstract

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NORD is very grateful to the medical advisors of the Foundation for Ichthyosis & Related Skin Types for assistance in the preparation of this report.

Synonyms of Ichthyosis

  • Disorders of Cornification

Disorder Subdivisions

  • Chanarin-Dorfman syndrome (neutral lipid storage disease)
  • CHILD syndrome (unilateral hemidysplasia)
  • congenital ichthyosiform erythroderma (CIE)
  • Conradi-Hunermann syndrome (X-linked dominant chondrodysplasia punctata)
  • Darier disease
  • epidermal nevi (ichthyosis hystrix, linear epidermal nevus)
  • epidermolytic hyperkeratosis (EHK)
  • erythrokeratodermia variabilis (EKV)
  • Giroux-Barbeau syndrome
  • Hailey-Hailey disease (benign familial pemphigus)
  • harlequin ichthyosis (harlequin fetus)
  • ichthyosis hystrix Curth-Macklin type
  • ichthyosis vulgaris (ichthyosis simplex)
  • keratosis follicularis spinulosa decalvans
  • KID syndrome (keratitis, ichthyosis, deafness)
  • lamellar ichthyosis
  • multiple sulfatase deficiency
  • Netherton syndrome (ichthyosis linearis circumflexa)
  • pachyonychia congenita
  • palmoplantar keratodermas (PPK)
  • peeling skin syndrome
  • pityriasis rubra pilaris (PRP)
  • Refsum's disease (phytanic acid storage disease)
  • Rud's syndrome
  • Sjogren-Larsson syndrome
  • Tay's syndrome (trichothiodystrophy, IBIDS syndrome)
  • X-linked ichthyosis

General Discussion

Ichthyosis is a general term for a family of rare genetic skin diseases characterized by dry, thickened, scaling skin. The various forms are distinguished from one another by: 1) extent of the scaling and how widely and where the scaling is scattered over the body; 2) the presence or absence and intensity of reddening of the skin (erythroderma); 3) the mode of inheritance; and 4) the character of associated abnormalities.

Ichthyosis Resources

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The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

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