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Ichthyosis hystrix is a group of rare skin disorders in the
DermIS This term is also used to refer to a type of epidermal
The symptoms of ichthyosis hystrix Curth-Macklin are similar to epidermolytic hyperkeratosis (NPS-2 type) but there is no blistering and the hyperkeratosis is verrucous or spine-like. The hyperkeratosis is brown-grey in colour and is most obvious on the arms and legs. It is an
ichthyosis
Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominan ...
family of skin disorders characterized by massive hyperkeratosis
Hyperkeratosis is thickening of the stratum corneum (the outermost layer of the epidermis, or skin), often associated with the presence of an abnormal quantity of keratin,Kumar, Vinay; Fausto, Nelso; Abbas, Abul (2004) ''Robbins & Cotran Pathologi ...
with an appearance like spiny scales.''Ichthyosis hystrix''DermIS This term is also used to refer to a type of epidermal
nevi
Nevus (plural nevi) is a nonspecific medical term for a visible, circumscribed, chronic lesion of the skin or mucosa. The term originates from ''nævus'', which is Latin for "birthmark"; however, a nevus can be either congenital (present at b ...
with extensive bilateral distribution.
Types
Ichthyosis hystrix, Curth-Macklin type
The symptoms of ichthyosis hystrix Curth-Macklin are similar to epidermolytic hyperkeratosis (NPS-2 type) but there is no blistering and the hyperkeratosis is verrucous or spine-like. The hyperkeratosis is brown-grey in colour and is most obvious on the arms and legs. It is an autosomal dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and ...
condition and can be caused by errors to the KRT1 gene. It is named after Helen Ollendorff Curth
Helen may refer to:
People
* Helen of Troy, in Greek mythology, the most beautiful woman in the world
* Helen (actress) (born 1938), Indian actress
* Helen (given name), a given name (including a list of people with the name)
Places
* Helen, G ...
(1899-1982), a German-Jewish dermatologist, and Madge Thurlow Macklin
Madge Thurlow Macklin (February 6, 1893 – March 4, 1962) was an American physician known for her work in the field of medical genetics, efforts to make genetics a part of medical curriculum, and participation in the eugenics movement.
Early li ...
(1893–1962), an American medical geneticist, and is one of the first syndromes named after two women.
Ichthyosis hystrix, Lambert type
Also known as ichthyosis hystrix gravior or porcupine man. This disease is characterised by spiny scales which cover the entire body except the face, genitals, palms and soles. The only known cases were in Edward Lambert (known as the porcupine man) who was exhibited in front of the Royal Society in London in 1731 and three generations of his descendants. No cases of this disease are now known though some experts believe that it may have been a type of epidermolytic hyperkeratosis. From the history of the Lambert family the disease appears to have been anautosomal dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and ...
condition.
Hystrix-like ichthyosis with deafness syndrome
HID syndrome is also known as ichthyosis hystrix, Rheydt type after the German city of Rheydt near Düsseldorf where it was first discovered. Symptoms are bilateral hearing loss and spiky hyperkeratotic masses which cover the whole body though the palms and soles are less badly affected. It can be differentiated from KID syndrome which also has symptoms of deafness and ichthyosis by the different distribution of hyperkeratosis. It is anautosomal dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and ...
condition caused by a mutation to the GJB2
Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the ''GJB2'' gene.
Clinical significance
Defects in this gene lead to the most common form of congenital deafness in developed ...
gene (the same gene affected by KID syndrome).
Ichthyosis hystrix, Baefvertstedt type
An extremely rare disease of which only a few isolated cases are known.See also
*List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier agai ...
* List of cutaneous conditions caused by mutations in keratins
There are many different keratin proteins normally expressed in the human integumentary system. Mutations in keratin proteins in the skin can cause disease.
Of note, other structural proteins in the epidermis of the skin that are closely rel ...
* List of radiographic findings associated with cutaneous conditions
Many conditions of or affecting the human integumentary system have associated features that may be found by performing an x-ray or CT scan of the affected person.
See also
* List of cutaneous conditions
* List of contact allergens
* List o ...
References
External links
{{Channelopathy Epidermal nevi, neoplasms, and cysts Genodermatoses Rare diseases Cytoskeletal defects