Meleda disease

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Meleda disease
Other namesKeratosis palmoplantaris transgrediens of Siemens
Meleda disease has an autosomal recessive pattern of inheritance.
SpecialtyMedical genetics Edit this on Wikidata
SymptomsDry, thick patches of skin
CausesHereditary; autosomal recessive trait

Meleda disease (MDM) or "mal de Meleda", also called Mljet disease, keratosis palmoplantaris and transgradiens of Siemens,

congenital skin disorder in which dry, thick patches of skin develop on the soles of the hands and feet, a condition known as palmoplantar hyperkeratosis.[5]: 214  Meleda Disease is a skin condition which usually can be identified not long after birth. This is a genetic condition but it is very rare. The hands and feet usually are the first to show signs of the disease but the disease can advance to other parts of the body. Signs of the disease include thickening of the skin, on hands and soles of feet, which can turn red in color.[6] There currently is no cure and treatment is limited, but Acitretin can be used in severe cases.[7]

Signs and Symptoms

Skin on the palms of hands and soles of feet have dry, thick patches which progress slowly.

peeling and could be red in color.[6][8]

There is not much variation in this disease besides the skin how red the skin will turn and how much skin will turn thicker.[8] The skin that is affected on the hands and feet can start to look like the affected person is wearing gloves or socks, this is because the affected area on the hands and feet go up to the wrists and ankles, respectively.[9]

Other symptoms can include excessive sweating due to the thick skin affecting sweat glands on the skin; this excessive sweating can cause a person to have bad odor.[9] Severity of symptoms could increase as a person gets older.[8]

Signs

Cause

This is a

skin peeling.[6]

Pathophysiology

Meleda disease is a

heterozygous, and still carry the affected gene and be able to pass it to their children; there would be a 25% chance that the child would actually be affected if both parents were carriers of the disease but did not actually display symptoms of the disease.[10]

Genetic

MDM is most common on the

skin cells.[7]

Diagnosis

The

genetically inherited disease. Overall, the diagnosis usually happens after birth because the majority of the time the child's hands and feet will be affected, making the condition apparent. Genetic testing can be done to determine whether there are mutations to confirm the disease.[9] There are similar diseases that affect the skin which also have to be taken into consideration before making a diagnosis.[citation needed
]

Palmoplantar keratodermas (PPK)

These are different patterns of disorders that cause the thickening of the skin on the hands and feet:

Differential Diagnosis

Treatment

Treatment can consist of topical lotions, drug therapies, and surgery. Treatment varies from person to person depending on the severity of their symptoms. Treatment has been more successful with oral retinoids than with the use of topical lotions, applied directly to the affected skin.[6]

Retinoids

Aromatic Retinoid Etretinate used to be prescribed and had effective results in treating Meleda disease,

Tigason. In America, Etretinate was replaced by Acitretin, and is only used in severe cases due to the severe side effects.[15] If taking Acitretin it is advised to not donate blood or get pregnant for at least 3 years after taking the drug.[16]

Topical Lotion

Topical lotions can help keep the skin moisturized, and help reduce flaking of the skin.[9] Generally these are safe to put on skin, but possible side effects can include irritation.[9]

Prognosis

With treatment the prognosis can be good for people with this disease.[9] Quality of life can possibly can be decreased, therefore getting treatment is recommended.[6] Too much dry skin can be painful for some and cause discomfort.[8] There is limited data on the life expectancy of an affected person, but this disease alone does not reduce a person's lifespan.

Epidemiology

Mljet Island located off of Croatia

Most cases of Meleda Disease have been reported in and around the former Yugoslavia. It is estimated that there is one case per 100,000 people, who become affected with the disease.[8][7] Symptoms usually show up after birth and there are no differences in gender or ethnicity as to who can become affected.[7]

The disease is believed to have started on the Croatian island of Mljet, after people were quarantined on the island for having plague and other diseases in 1826.[9] On the island, inbreeding is believed to have occurred and Meleda disease became apparent.[9]

Research Directions

Current research is directed to find more treatments, and to see if there is any way to prevent this disease.[6]

See also

References

  1. ^ Online Mendelian Inheritance in Man (OMIM): 248300
  2. ^
    ISBN 0-07-138076-0
    .
  3. ISBN 978-1-4160-2999-1
    .
  4. PMID 11285253
    .
  5. ISBN 0-7216-2921-0
    .
  6. ^ a b c d e f g h i j k l "Meleda Disease". www.dovemed.com. Retrieved 2019-11-06.
  7. ^
    S2CID 28912068
    .
  8. ^ a b c d e f g h "Meleda Disease". NORD (National Organization for Rare Disorders). Retrieved 2019-11-06.
  9. ^ a b c d e f g h i j k l m n o p q r s t u "Diagnosis: Mal de Meleda | The Dermatologist". www.the-dermatologist.com. Retrieved 2019-12-14.
  10. ^ "Autosomal recessive inheritance pattern". Mayo Clinic. Retrieved 2019-12-14.
  11. ^ "SLURP1 gene".
  12. ^ Reference, Genetics Home. "SLURP1 gene". Genetics Home Reference. Retrieved 2019-12-13.
  13. S2CID 26539694
    .
  14. PMID 6235136
    .
  15. ^ "Etretinate Drug Information, Professional". Drugs.com. Retrieved 2019-12-14.
  16. ^ "Drugs & Medications". www.webmd.com. Retrieved 2019-12-14.

Further reading

External links
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