About keratosis palmoplantaris transgradiens of siemens

What is keratosis palmoplantaris transgradiens of siemens?

Meleda disease is an extremely rare inherited skin disorder characterized by the slowly progressive development of dry, thick patches of skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis). Affected skin may be unusually red (erythema) and become abnormally thick and scaly (symmetrical cornification). Affected children may also exhibit various abnormalities of the nails; excessive sweating (hyperhidrosis) associated with an unpleasant odor; and/or, in some cases, development of small, firm raised lesions (lichenoid plaques). The range and severity of symptoms may vary from case to case. Meleda disease is inherited as an autosomal recessive trait.

What are the symptoms for keratosis palmoplantaris transgradiens of siemens?

Meleda disease is an extremely rare inherited skin disorder that is usually obvious shortly after birth. Initially, affected infants may have unusually Red skin on the palms of the hands and the soles of the feet (palmoplantar erythema). The affected skin then becomes abnormally thick, yellowish-brown, and scale-like (hyperkeratosis). These skin Lesions are usually present on both sides of the body (bilateral) on the same respective areas (symmetrical palmoplantar keratosis). As the child grows older, these patches may spread to involve the entire hand or foot. Eventually, the wrists, forearms, and knees may also become involved. In some cases, with advancing age, the skin on the chest and abdomen may also become dry, scaly, and cracked. Excessively Dry skin may cause Pain and discomfort.

Individuals with Meleda disease may also have unusually Red skin around the mouth (perioral erythema). In addition, affected children exhibit various abnormalities of the nails (nail dystrophy). The nails may become excessively hard and thick (pachyonychia); “spoon-shaped” (koilonychia); or “hooked” (onychogryphosis) in appearance. In some cases, affected individuals may also have excessive hair growth on the hands or feet.

Some individuals with Meleda disease may exhibit small, firm raised skin Lesions (lichenoid plaques) in areas affected by hyperkeratosis. In addition, in most cases, affected individuals may exhibit excessive Sweating (hyperhidrosis) that may be associated with an unpleasant odor. Additional features associated with Meleda disease may include abnormal webbing (fusion) of the fingers and/or toes (syndactyly), abnormal shortening of the fingers and toes (brachydactyly), and/or a grooved, cracked tongue (lingua plicata).

What are the causes for keratosis palmoplantaris transgradiens of siemens?

Meleda disease is inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%.

Some individuals with Meleda disease have had parents who were related by blood (consanguineous). All individuals carry a few abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Investigators have determined that some cases of Meleda disease may be caused by disruption or changes (mutations) of the ARS gene located on the long arm (q) of chromosome 8 (8q24.3). The ARS gene encodes a protein known as SLURP-1, which researchers believe is involved in cell signaling and adhesion. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Pairs of human chromosomes are numbered from 1 through 22, and an additional 23rd pair of sex chromosomes, which include one X and one Y chromosome in males and two X chromosomes in females. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 8q24.3” refers to band 24.3 on the long arm of chromosome 8. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

What are the treatments for keratosis palmoplantaris transgradiens of siemens?

The treatment of Meleda disease is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, physicians who diagnose and treat skin problems (dermatologists), and other health care professionals may need to systematically and comprehensively plan an affected child's treatment.

Limited success has been found in treating associated skin lesions with lotions applied directly to the skin (topical). In some cases, surgery may be used to alleviate skin problems. Excessive sweating (hyperhidrosis) may be treated with aluminum acetate soaks or aluminum chloride hexahydrate applications.

Genetic counseling will be of benefit for affected individuals and their families. Other treatment for this disorder is symptomatic and supportive.

What are the risk factors for keratosis palmoplantaris transgradiens of siemens?

Keratosis planopilaris transgrediens of siemens is a genodermatosis characterized by hyperkeratosis. Initially, keratosis begins on the palm and soles and spreads to the dorsal aspects of hands, fingers, and feet as well as flexor aspects of wrists and heels. The skin manifestations set in by the age of 3 to 5 years. abnormal expression of structural proteins involved in the skin is the cause of the condition.

Risk factors
1. It is a genetic disorder and may be inherited in an autosomal recessive or dominant fashion.
2. Genetic predisposition is the risk factor for the disease. For dominant mutants, every child born to, even a single affected parent, is at high risk of inheritance.
3. For the mutations that are recessive in nature, the risk varies depending on the zygosity of the mutant. Every child born to an affected parent is affected. When a parent is affected, and the other is a carrier, a child born to them is 75% likely to be diseased. When both parents are carriers, the probability for a child to develop the disease is 0.5.
4. Environmental factors include dehydration, prolonged exposure to heat, and resistance elevates the severity of the skin manifestations.

Symptoms
Scaly thick patches on the skin over the palm, soles, fingers, wrists, and heels.,Dry skin, and irritation,Psychological depression due to inferiority complex
Conditions
Hyperkeratosis
Drugs
Keratolytic agents such as salicylic acid, lactic acid, urea, and propylene glycol.,Oral retinoids including, acitretin, isotretinoin, and alitretinoin,Erlotinib and vitamin D

Is there a cure/medications for keratosis palmoplantaris transgradiens of siemens?

Keratosis planopilaris transgrediens of siemens is a genetic, dermal disorder. The individual born with the causative gene develops hyperkeratosis, which leads to a scaly, rough, thick layer of skin on the palms and soles. Since the disease is transgradient in nature, the keratosis extends to the dorsal aspects of fingers, hands, and feet as well as flexor aspects of the wrists and heels. If left untreated, the keratosis may progress deep into underlying subcutaneous layers.

Treatment
The available treatments only produce short-term improvement, and it is challenging.
1. Saltwater soaks with the physical paring of skin is a simple measure.
2. Emollients containing keratolytic agents such as salicylic acid (5% to 10%), propylene glycol (20% to 70%), or lactic acid (10%) in aqueous cream help hyperkeratosis. A combination therapy using 10% urea and 5% lactic acid in aqueous cream is effective when applied twice daily. It mitigates keratosis.
3. Oral retinoids: The optimal dosage of oral acitretin is 25 to 35 mg daily in adults or 0.6 mg/kg daily in children, which may be adjusted after four weeks of therapy. Oral isotretinoin 0.5 mg/kg is less effective. Oral alitretinoin 30 mg/day is an alternative.
4. Vitamin D may also help.
5. Erlotinib, an epidermal growth factor inhibitor, in a dose of 100 mg/day helps the progression of keratosis.
6. In the cases of refractory response, patients may require reconstruction surgery with total excision of the hyperkeratotic skin followed by grafting.

Symptoms
Scaly thick patches on the skin over the palm, soles, fingers, wrists, and heels.,Dry skin, and irritation,Psychological depression due to inferiority complex
Conditions
Hyperkeratosis
Drugs
Keratolytic agents such as salicylic acid, lactic acid, urea, and propylene glycol.,Oral retinoids including, acitretin, isotretinoin, and alitretinoin,Erlotinib and vitamin D

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