Ichthyosis Hystrix with Deafness Syndrome
Rare condition combining hystrix-type ichthyosis with hearing impairment.
What Is Ichthyosis Hystrix with Deafness (HID) Syndrome?
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 becomes available, we will provide updates.
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.
Key Findings
The descriptive name of the disease identifies the key findings. Poor development of many organs is a constant feature and usually occurs on same side of the body as the ichthyosiform erythroderma.
- Skin
Generalized warty hyperkeratoses resembling spines. Palms/soles may be involved. - Hair
May have alopecia - Nails
May be dystrophic
Associated Findings
- Neurosensory deafness, congenital
May develop progressive keratitis
References
- 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.
- 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.
- 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.
- 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.
Clinical Resources
- Clinicians seeking to confirm a diagnosis should visit the Edvyce portal to submit a case to experts in ichthyosis.
- Learn more about FIRST’s Resources for individuals and families affected by Ichthyosis?
- Information about current clinical trials and research studies can be found here.
Types of Ichthyosis
- Congenital Ichthyosiform Erythroderma (CIE)
- Lamellar Ichthyosis
- Collodion Baby
- Darier Disease
- Epidermal Nevus
- Epidermolytic Ichthyosis
- Erythrokeratodermia Variabilis
- Erythrokeratodermia Cardiomyopathy Syndrome
- Harlequin Ichthyosis
- Ichthyosis Vulgaris
- Ichthyosis with Confetti
- Keratitis-Ichthyosis-Deafness (KID)
- Netherton Syndrome
- Pachyonychia Congenita
- Palmoplantar Keratodermas
- Sjögren-Larsson Syndrome
- X-Linked Ichthyosis
- Chanarin Dorfman Syndrome
- CHILD Syndrome
- Conradi-Hünermann
- Ichthyosis Hystrix with Deafness (HID) Syndrome
- Ichthyosis Hystrix Curth-Macklin
- Refsum Disease
- Trichothiodystrophy
Phenotype Names
Ichthyosis hystrix with deafness syndrome, ichthyosis hystrix, Rheydt type
EDD Name
GJB2-sEDD
OMIM
Inheritance
X-linked Dominant
Incidence
Rare; lethal in males
Diagnostic Tests
Genetic testing
Age of First Appearance
Birth to infancy
Abnormal Gene
GJB2, encoding connexin 26
Primary Symptom Photos
