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What is Ichthyosis Hystrix?

Ichthyosis hystrix is a form of epidermal nevus. Epidermal nevus is the clinical term for disorders in which the hyperkeratosis (thickening of the outer layer of skin) occurs in linear and swirling patterns within typically larger areas of uninvolved, normal skin. They are mosaic skin disorders caused by several different genes (for more information see FIRST’s information on epidermal nevi). The term ‘mosaic’ indicates that only some of the cells in the body harbor the mutation. In some instances, mosaic disorders are heritable (for more information, request FIRST’s publications, Ichthyosis: the Genetics of its Inheritance and epidermal nevi).

As more information for our “Patient Perspective” section of  Ichthyosis Hystrix becomes available, we will provide updates. Please refer to a Clinician’s Perspective for Ichthyosis Hystrix Syndrome.

1. Richardson EF, Lee JB, Hyde PH et al. A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe diffuse palmoplantar keratoderma of the Ichthyosis Hystrix Curth-Macklin Type. J. Invest. Derm. 2006; 126:79-84.
2. van Geel M1, van Steensel MA, Küster W, et al. HID and KID syndromes are associated with the same connexin 26 mutation. Br J Dermatol. 2002;146:938-42.
3. Biswas P, De A, Sendur S, Nag F, et al. A case of ichthyosis hystrix: unusual manifestation of this rare disease. Indian J Dermatol. 2014;59:82-84.
4. Wang WH, Song SJ, Zhang L et al. Disturbed keratin expression and distinct genotype of ichthyosis hystrix Lambert type. Eur J Dermatol 2010;20:567-572.

Other Names: Ichthyosis hystrix, Rheydt type
OMIM: 60254
Inheritance: autosomal dominant
Incidence: rare
Key Findings:
  • Skin: Generalized warty hyperkeratoses resembling spines. Palms/soles may be involved.
  • Nail: May be dystrophic.
  • Hair: May have alopecia.
Associated Findings:
  • Neurosensory deafness, congenital; may develop progressive keratitis.
Age at First Appearance: Birth to infancy.
Longterm Course: Life-long, similar to KID (keratitis ichthyosis deafness) syndrome. Increased risk of skin cancer in KID syndrome likely to also apply to HID phenotype.
Diagnostic Tests: Genetic testing.
Abnormal Gene: GJB2, encoding connexin 26.

Additional Resources:

This information is provided as a service to patients and parents of patients who have ichthyosis. It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents. Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors nor Foundation staff and officials endorse any treatments or products reported here. All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.

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