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Ichthyosis Hystrix with Deafness (HID) Syndrome: A Patient's Perspective: A Clinical Perspective
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|
|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.|
- Clinicians seeking to confirm a diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis. »
- Learn more about FIRST's Regional Support Network - connecting affected individuals and families with each other. Or call the FIRST office at 800-545-3286. »
- Information about current clinical trials and research studies can be found here.
- Additional OMIM link: *121011