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Usually, a common form of treatment for the condition is a type of hand cream which moisturises the hard skin. However, currently the condition is incurable.
There is no cure for IBS but in the future gene therapy may offer a cure.
Treatments for IBS generally attempt to improve the appearance of the skin and the comfort of the sufferer. This is done by exfoliating and increasing the moisture of the skin. Common treatments include:
- Emollients: moisturisers, petroleum jelly or other emolients are used, often several times a day, to increase the moisture of the skin.
- Baths: long baths (possibly including salt) several times a week are used to soften the skin and allow exfoliation.
- Exfoliating creams: creams containing keratolytics such as urea, salicylic acid and lactic acid may be useful.
- Antiseptic washes: antiseptics may be used to kill bacteria in the skin and prevent odour.
- Retenoids: very severe cases may use oral retinoids to control symptoms but these have many serious side effects including, in the case of IBS, increased blistering.
Oral retinoids have proven effective in treating this disorder. Depending on the side effects they may improve the quality of life. Examples are etretinate, acitretin, isotretinoin
Gene therapy is really the only true therapy on the horizon for sufferers of EHK.
Over the past 10 years since the first EHK mouse model was developed, many ideas have been discussed about how best to cure EHK. Back as far as 1994 researchers were discussing new promising ideas such as topical lotions that would deliver ribozymes in a liposom cream. Ribozymes are a small piece of synthetic RNA which can digest RNA molecules. When cells make a protein from a gene on a chromosome sitting in the nucleus, the gene is first transcribed as a piece of RNA. This RNA is then translated into a protein. Ribozymes can be designed to destroy RNA molecules with specific sequences. In theory, this will stop the production of the protein encoded by the mutant alleles of the gene.
Successful gene therapy solutions have been recently achieved on mouse models by Jiang Chen M.D., a post-doctoral fellow in the laboratory of Dennis Roop, Ph.D., in the Center for Cutaneous Molecular Biology at Baylor College of Medicine. In 1998 they developed an inducible mouse model for epidermolysis hyperkeratosis which is viable, because the expression of a mutant K10 allele can be restricted to a focal area of the skin. "Once the mutant K10 allele is activated in epidermal stem cells by topical application of an inducer, these stem cells continuously give rise to defective progeny that form hyperkeratotic lesions which persist for the life of the mouse. It was observed that partial suppression of the mutant K10 gene may be sufficient to eliminate the disorder."
To test this observation, Dr. Chen and his team of researchers developed siRNAs that target the mutant K10 gene products for degradation, without affecting normal K10 gene products. Dr. Chen observed that under these conditions, an efficient knock-down of mutant, but not normal, K10 genes could be achieved. The results allowed the normal K10 genes to function properly building healthy skin tissues. He claims that these results may prove to be a very vital step forward in forging a novel gene therapy and possible permanent corrective therapy for this debilitating skin disorder.
A mutation in the KDSR gene has been reported to be associated with this condition. This gene encodes 3-ketodihydrosphingosine reductase, an enzyme in the ceramide synthesis pathway. The authors also reported that the use of systemic isotretinoin resulted in almost complete resolution of the lesions in two cases.
Two other reports suggest that isotretinoin may be of use.
As with all types of ichthyosis, there is no cure but the symptoms can be relieved.
- Moisturizers
- Prevention of overheating
- Eye drops (to prevent the eyes from becoming dried out)
- Systemic Retinoids (isotretinoin and acitretin are very effective, but careful monitoring for toxicity is required. Only severe cases may require intermittent therapy.)
Psychological therapy or support may be required as well.
Definitive treatment does not exist at the moment. Palliative treatment are intended to alleviate the itching that often accompanies the skin inflammation and to moisture the dry skin to prevent excessive dryness and scaling of the plaques.
Epidermolysis bullosa simplex may be divided into multiple types:
Pitted keratolysis can be reduced and eventually stopped by regularly applying a liberal amount of antiperspirant body powder to the inside of the shoes and socks of the sufferer. Regular powder application will greatly reduce foot perspiration and keep the plantar surface of the foot dry therefore creating an environment hostile to the Corynebacterium.
Epidermolysis bullosa simplex (EBS),is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.
Blister formation of EBS occurs at the dermoepidermal junction. Sometimes EBS is called "epidermolytic".
Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the palms and soles.
Autosomal recessive and dominant, X-linked, and acquired forms have all been described.
Treatment of manifestations: special hair care products to help manage dry and sparse hair; wigs; artificial nails; emollients to relieve palmoplantar hyperkeratosis.
Generally, lichen nitidus is asymptomatic and self-limited; therefore, no treatment is required. However, if persistent pruritus is present, or the appearance “...interferes with daily activities or outlook...” topical glucocorticoids may be tried. If the disease process is symptomatic, generalized and extensive, oral glucocorticoids may be indicated. Other reported treatments include PUVA, UVA/UVB phototherapy, astemizole, acitretin, and etretinate.
When appears with sun/humidity; air conditioning (cool dry air) reduces swelling and discomfort.
Ectodermal dysplasia with corkscrew hairs is a skin condition with salient features including exaggerated pili torti, scalp keloids, follicular plugging, keratosis pilaris, xerosis, eczema, palmoplantar keratoderma, syndactyly, onchodysplasia, and conjunctival neovascularization.
Overheating: The scaling of the skin prevents normal sweating so hot weather and/or vigorous exercise can cause problems.
Eye problems: The eyelids can be pulled down by the tightness of the skin and this can make eyelids (but usually just the lower one) very red and they are prone to drying and irritation.
Constriction bands: Very rarely children with this condition can have tight bands of skin around their fingers or toes (usually at the tips) that can prevent proper blood circulation to the area.
Hair loss: Severe scaling of the skin on the scalp can lead to patchy loss of hair, but this is rarely permanent.
Pustulosis palmaris et plantaris (also known as pustulosis of palms and soles, palmoplantar pustulosis, persistent palmoplantar pustulosis, pustular psoriasis of the Barber type, and pustular psoriasis of the extremities) is a chronic recurrent pustular dermatosis (that is, a pustulosis or pustular psoriasis) localized on the palms and soles only, characterized histologically by intraepidermal pustules filled with neutrophils. It can occur as part of the SAPHO syndrome.
Acrokeratosis verruciformis (also known as "Acrokeratosis verruciformis of Hopf" is a rare autosomal dominant disorder appearing at birth or in early childhood, characterized by skin lesions that are small, verrucous, flat papules resembling warts along with palmoplantar punctate keratoses and pits. However sporadic forms, whose less than 10 cases have been reported, presents at a later age, usually after the first decade and generally lack palmoplantar keratoses.
Whether acrokeratosis verruciformis and Darier disease are related or distinct entities has been controversial, like Darier's disease, it is associated with defects in the ATP2A2 gene. however the specific mutations found in the ATP2A2 gene in acrokeratosis verruciformis have never been found in Darier's disease.
Ichthyosis bullosa of Siemens is a type of familial, autosomal dominant ichthyosis, a rare skin disorder. It is also known as bullous congenital ichthyosiform erythroderma of Siemens or ichthyosis exfoliativa. It is a genetic disorder with no known cure which is estimated to affect about 1 in 500,000 people.
An extremely rare disease of which only a few isolated cases are known.
Myrmecia is one of the three types of warts that occurs on the skin on the hands and feet (palmoplantar). It is induced by human papilloma virus type 1 (HPV1). They occur on the palms of the hands, soles of the feet, and on the sides of the fingers and toes. The histology is abundant eosinophilic inclusion bodies associated with HPV1 E4 gene products. It was studied as far back as 42 B.C. - 37 A.D. by Aulus Cornelius Celsus.
Keratoderma blennorrhagicum etymologically meaning keratinized (kerato-) skin (derma-) mucousy (blenno-) discharge (-rrhagia) (also called keratoderma blennorrhagica) are skin lesions commonly found on the palms and soles but which may spread to the scrotum, scalp and trunk. The lesions may resemble psoriasis.
Keratoderma blennorrhagicum is commonly seen as an additional feature of reactive arthritis in almost 15% of male patients. The appearance is usually of a vesico-pustular waxy lesion with a yellow brown colour. These lesions may join together to form larger crusty plaques with desquamating edges.
Many 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 against the external environment. The skin weighs an average of four kilograms, covers an area of two square meters, and is made of three distinct layers: the epidermis, dermis, and subcutaneous tissue. The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin. Within the latter type, the hairs occur in structures called pilosebaceous units, each with hair follicle, sebaceous gland, and associated arrector pili muscle. In the embryo, the epidermis, hair, and glands form from the ectoderm, which is chemically influenced by the underlying mesoderm that forms the dermis and subcutaneous tissues.
The epidermis is the most superficial layer of skin, a squamous epithelium with several strata: the stratum corneum, stratum lucidum, stratum granulosum, stratum spinosum, and stratum basale. Nourishment is provided to these layers by diffusion from the dermis, since the epidermis is without direct blood supply. The epidermis contains four cell types: keratinocytes, melanocytes, Langerhans cells, and Merkel cells. Of these, keratinocytes are the major component, constituting roughly 95 percent of the epidermis. This stratified squamous epithelium is maintained by cell division within the stratum basale, in which differentiating cells slowly displace outwards through the stratum spinosum to the stratum corneum, where cells are continually shed from the surface. In normal skin, the rate of production equals the rate of loss; about two weeks are needed for a cell to migrate from the basal cell layer to the top of the granular cell layer, and an additional two weeks to cross the stratum corneum.
The dermis is the layer of skin between the epidermis and subcutaneous tissue, and comprises two sections, the papillary dermis and the reticular dermis. The superficial papillary dermis with the overlying rete ridges of the epidermis, between which the two layers interact through the basement membrane zone. Structural components of the dermis are collagen, elastic fibers, and ground substance. Within these components are the pilosebaceous units, arrector pili muscles, and the eccrine and apocrine glands. The dermis contains two vascular networks that run parallel to the skin surface—one superficial and one deep plexus—which are connected by vertical communicating vessels. The function of blood vessels within the dermis is fourfold: to supply nutrition, to regulate temperature, to modulate inflammation, and to participate in wound healing.
The subcutaneous tissue is a layer of fat between the dermis and underlying fascia. This tissue may be further divided into two components, the actual fatty layer, or panniculus adiposus, and a deeper vestigial layer of muscle, the panniculus carnosus. The main cellular component of this tissue is the adipocyte, or fat cell. The structure of this tissue is composed of septal (i.e. linear strands) and lobular compartments, which differ in microscopic appearance. Functionally, the subcutaneous fat insulates the body, absorbs trauma, and serves as a reserve energy source.
Conditions of the human integumentary system constitute a broad spectrum of diseases, also known as dermatoses, as well as many nonpathologic states (like, in certain circumstances, melanonychia and racquet nails). While only a small number of skin diseases account for most visits to the physician, thousands of skin conditions have been described. Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known. Therefore, most current textbooks present a classification based on location (for example, conditions of the mucous membrane), morphology (chronic blistering conditions), etiology (skin conditions resulting from physical factors), and so on. Clinically, the diagnosis of any particular skin condition is made by gathering pertinent information regarding the presenting skin lesion(s), including the location (such as arms, head, legs), symptoms (pruritus, pain), duration (acute or chronic), arrangement (solitary, generalized, annular, linear), morphology (macules, papules, vesicles), and color (red, blue, brown, black, white, yellow). Diagnosis of many conditions often also requires a skin biopsy which yields histologic information that can be correlated with the clinical presentation and any laboratory data.
PPE invariably recurs with the resumption of chemotherapy. Long-term chemotherapy may also result in reversible palmoplantar keratoderma. Symptoms resolve 1–2 weeks after cessation of chemotherapy (Apisarnthanarax and Duvic 2003).
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 an autosomal dominant condition.
Schöpf–Schulz–Passarge syndrome (also known as "eyelid cysts, palmoplantar keratoderma, hypodontia, and hypotrichosis") is an autosomal recessive condition with diffuse symmetric palmoplantar keratoderma, with the palmoplantar keratoderma and fragility of the nails beginning around age 12. In addition to palmoplantar keratoderma, other symptoms include hypodontia, hypotrichosis, nail dystrophies, and eyelid cysts (apocrine hidrocystomas). Patients may also develop syringofibroadenoma and squamous cell carcinomas.
It was characterized in 1971.
It has been associated with WNT10A.