Genetics Home Reference :
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Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).
As affected individuals get older, blistering is less frequent, erythroderma becomes less evident, and the skin becomes thick (hyperkeratotic), especially over joints, on areas of skin that come into contact with each other, or on the scalp or neck. This thickened skin is usually darker than normal. Bacteria can grow in the thick skin, often causing a distinct odor.
Epidermolytic hyperkeratosis can be categorized into two types. People with PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition to other areas of the body. People with the other type, NPS-type, do not have extensive palmoplantar hyperkeratosis but do have hyperkeratosis on other areas of the body.
Epidermolytic hyperkeratosis is part of a group of conditions called ichthyoses, which refers to the scaly skin seen in individuals with related disorders. However, in epidermolytic hyperkeratosis, the skin is thick but not scaly as in some of the other conditions in the group.
MalaCards based summary :
Epidermolytic Hyperkeratosis, also known as
bullous congenital ichthyosiform erythroderma, is related to
ichthyosis, cyclic, with epidermolytic hyperkeratosis and
ichthyosis bullosa of siemens, and has symptoms including
scaly skin An important gene associated with Epidermolytic Hyperkeratosis is
KRT10 (Keratin 10), and among its related pathways/superpathways are
Developmental Biology and
Relaxin signaling pathway. The drugs
Immunoglobulins and
Antibodies have been mentioned in the context of this disorder. Affiliated tissues include
skin,
breast and
testes, and related phenotypes are
ichthyosis and
edema
NIH Rare Diseases :
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Epidermolytic ichthyosis (EI) is a rare, genetic skin disorder. It becomes apparent at birth, or shortly after birth, with reddening, scaling, and severe blistering of the skin. Hyperkeratosis (thickening of the skin) develops within months and worsens over time. Blister formation decreases, but may still occur after skin trauma or during summer months. Skin can be itchy and smelly, and prone to infection. Other features may include reduced sweating; nail abnormalities; and in severe cases, growth failure. EI is caused by changes (mutations ) in the KRT1 or KRT10 genes . About half of cases are due to new mutations and are not inherited from a parent (sporadic ). Other cases are usually inherited in an autosomal dominant manner, and rarely, in an autosomal recessive manner. Treatment aims at alleviating and preventing symptoms and may include topical moisturizers or medications, and antiseptic washes.
OMIM :
56
Epidermolytic hyperkeratosis (EHK), also termed bullous congenital ichthyosiform erythroderma (BCIE), is a keratinization disorder with an incidence of approximately 1 in 200,000 in the USA. The clinical phenotype of EHK is characterized by erythema and widespread formation of epidermal blisters developing at birth. Later in life, bullous erythema is replaced by progressive hyperkeratosis, involving thickening of the cornified layer of the epidermis (summary by Muller et al., 2006).
Goldsmith (1976) used the designation of epidermolytic hyperkeratosis for the condition that is called bullous congenital ichthyosiform erythroderma (BCIE) when generalized, and ichthyosis hystrix (see 146600) when localized. They are presumably distinct entities.
A form of epidermolytic hyperkeratosis that is limited to the palms and soles, designated palmoplantar keratoderma (EPPK; 144200), is caused by mutation in the keratin gene KRT9 (607606), and a mild form of EPPK can also be caused by mutation in KRT1.
(113800)
KEGG :
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Bullous congenital ichthyosiform erythroderma (BCIE), also known as epidermolytic hyperkeratosis (EHK), is characterized by erythema and skin blistering of the newborn. The erythema is replaced with thick scaling later. Neonates with BCIE have higher risk of developing severe infection, such as sepsis.
UniProtKB/Swiss-Prot :
73
Epidermolytic hyperkeratosis: An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop.
Wikipedia :
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Epidermolytic ichthyosis (EI), also known as bullous epidermis ichthyosis (BEI), epidermolytic...
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