Meleda disease: Difference between revisions
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[[File:autorecessive.svg| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Meleda disease | |||
| image = [[File:autorecessive.svg|200px]] | |||
| caption = Meleda disease is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = [[Palmoplantar keratoderma]] of the [[Meleda]] type, [[Keratoderma palmoplantaris transgrediens]] | |||
| pronunciation = | |||
| specialty = [[Dermatology]] | |||
| symptoms = Thickening of the skin on the palms and soles, [[hyperkeratosis]], [[erythema]], [[fissures]] | |||
| onset = Usually in infancy | |||
| duration = Lifelong | |||
| causes = Mutations in the [[SLURP1]] gene | |||
| risks = | |||
| diagnosis = Clinical evaluation, genetic testing | |||
| differential = Other forms of [[palmoplantar keratoderma]] | |||
| prevention = | |||
| treatment = [[Emollients]], [[keratolytics]], [[retinoids]] | |||
| medication = | |||
| prognosis = Generally good with treatment | |||
| frequency = Rare | |||
}} | |||
'''Meleda disease''' | |||
'''Meleda disease''', also known as '''Mal de Meleda''', is a rare [[genetic disorder]] characterized by [[palmoplantar keratoderma]], a condition that leads to thickening of the skin on the palms of the hands and the soles of the feet. This disorder is inherited in an [[autosomal recessive]] manner. | '''Meleda disease''', also known as '''Mal de Meleda''', is a rare [[genetic disorder]] characterized by [[palmoplantar keratoderma]], a condition that leads to thickening of the skin on the palms of the hands and the soles of the feet. This disorder is inherited in an [[autosomal recessive]] manner. | ||
== Signs and Symptoms == | == Signs and Symptoms == | ||
Individuals with Meleda disease typically present with symptoms in early infancy. The primary features include: | Individuals with Meleda disease typically present with symptoms in early infancy. The primary features include: | ||
* Thickened, scaly skin on the palms and soles ([[palmoplantar keratoderma]]) | * Thickened, scaly skin on the palms and soles ([[palmoplantar keratoderma]]) | ||
* Redness and inflammation of the affected areas | * Redness and inflammation of the affected areas | ||
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* Hyperhidrosis (excessive sweating) of the palms and soles | * Hyperhidrosis (excessive sweating) of the palms and soles | ||
* Nail abnormalities, such as thickening and discoloration | * Nail abnormalities, such as thickening and discoloration | ||
== Genetics == | == Genetics == | ||
Meleda disease is caused by mutations in the [[SLURP1]] gene, which is located on chromosome 8. The SLURP1 gene is responsible for producing a protein that plays a role in the regulation of skin cell growth and differentiation. Mutations in this gene disrupt normal skin development, leading to the symptoms observed in Meleda disease. | Meleda disease is caused by mutations in the [[SLURP1]] gene, which is located on chromosome 8. The SLURP1 gene is responsible for producing a protein that plays a role in the regulation of skin cell growth and differentiation. Mutations in this gene disrupt normal skin development, leading to the symptoms observed in Meleda disease. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Meleda disease is primarily based on clinical evaluation and the characteristic appearance of the skin. Genetic testing can confirm the diagnosis by identifying mutations in the SLURP1 gene. A family history of the disorder may also support the diagnosis. | Diagnosis of Meleda disease is primarily based on clinical evaluation and the characteristic appearance of the skin. Genetic testing can confirm the diagnosis by identifying mutations in the SLURP1 gene. A family history of the disorder may also support the diagnosis. | ||
== Treatment == | == Treatment == | ||
There is no cure for Meleda disease, but treatment focuses on managing symptoms and improving quality of life. Treatment options may include: | There is no cure for Meleda disease, but treatment focuses on managing symptoms and improving quality of life. Treatment options may include: | ||
* Topical keratolytic agents to reduce skin thickening | * Topical keratolytic agents to reduce skin thickening | ||
* Emollients and moisturizers to keep the skin hydrated | * Emollients and moisturizers to keep the skin hydrated | ||
* Systemic retinoids in severe cases | * Systemic retinoids in severe cases | ||
* Management of secondary infections due to skin fissures | * Management of secondary infections due to skin fissures | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Meleda disease varies. While the condition is chronic and can significantly impact quality of life, it is not typically life-threatening. With appropriate management, many individuals can lead relatively normal lives. | The prognosis for individuals with Meleda disease varies. While the condition is chronic and can significantly impact quality of life, it is not typically life-threatening. With appropriate management, many individuals can lead relatively normal lives. | ||
== See also == | |||
== | |||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Palmoplantar keratoderma]] | * [[Palmoplantar keratoderma]] | ||
* [[Autosomal recessive]] | * [[Autosomal recessive]] | ||
* [[SLURP1]] | * [[SLURP1]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Dermatology]] | [[Category:Dermatology]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
Latest revision as of 03:57, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Meleda disease | |
|---|---|
| |
| Synonyms | Palmoplantar keratoderma of the Meleda type, Keratoderma palmoplantaris transgrediens |
| Pronounce | N/A |
| Specialty | Dermatology |
| Symptoms | Thickening of the skin on the palms and soles, hyperkeratosis, erythema, fissures |
| Complications | N/A |
| Onset | Usually in infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the SLURP1 gene |
| Risks | |
| Diagnosis | Clinical evaluation, genetic testing |
| Differential diagnosis | Other forms of palmoplantar keratoderma |
| Prevention | |
| Treatment | Emollients, keratolytics, retinoids |
| Medication | |
| Prognosis | Generally good with treatment |
| Frequency | Rare |
| Deaths | N/A |
Meleda disease
Meleda disease, also known as Mal de Meleda, is a rare genetic disorder characterized by palmoplantar keratoderma, a condition that leads to thickening of the skin on the palms of the hands and the soles of the feet. This disorder is inherited in an autosomal recessive manner.
Signs and Symptoms[edit]
Individuals with Meleda disease typically present with symptoms in early infancy. The primary features include:
- Thickened, scaly skin on the palms and soles (palmoplantar keratoderma)
- Redness and inflammation of the affected areas
- Fissures and cracks in the thickened skin
- Hyperhidrosis (excessive sweating) of the palms and soles
- Nail abnormalities, such as thickening and discoloration
Genetics[edit]
Meleda disease is caused by mutations in the SLURP1 gene, which is located on chromosome 8. The SLURP1 gene is responsible for producing a protein that plays a role in the regulation of skin cell growth and differentiation. Mutations in this gene disrupt normal skin development, leading to the symptoms observed in Meleda disease.
Diagnosis[edit]
Diagnosis of Meleda disease is primarily based on clinical evaluation and the characteristic appearance of the skin. Genetic testing can confirm the diagnosis by identifying mutations in the SLURP1 gene. A family history of the disorder may also support the diagnosis.
Treatment[edit]
There is no cure for Meleda disease, but treatment focuses on managing symptoms and improving quality of life. Treatment options may include:
- Topical keratolytic agents to reduce skin thickening
- Emollients and moisturizers to keep the skin hydrated
- Systemic retinoids in severe cases
- Management of secondary infections due to skin fissures
Prognosis[edit]
The prognosis for individuals with Meleda disease varies. While the condition is chronic and can significantly impact quality of life, it is not typically life-threatening. With appropriate management, many individuals can lead relatively normal lives.
See also[edit]
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