Lelis syndrome: Difference between revisions
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[[File:Autosomal_recessive_-_en.svg| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Lelis syndrome | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| image_size = 200px | |||
| alt = | |||
| caption = Lelis syndrome is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = [[Erythrokeratodermia]] with ataxia and deafness | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Erythrokeratodermia]], [[ataxia]], [[deafness]] | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = Mutations in the [[POMP (gene)|POMP gene]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], clinical evaluation | |||
| differential = | |||
| prevention = | |||
| treatment = Symptomatic management | |||
| medication = | |||
| prognosis = | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Lelis syndrome''' is a rare [[genetic disorder]] characterized by a combination of [[skin abnormalities]], [[immune system]] deficiencies, and other systemic manifestations. It is also known as '''Lelis syndrome type 1''' or '''Lelis syndrome type 2''', depending on the specific genetic mutation involved. | |||
== Clinical Features == | == Clinical Features == | ||
Individuals with Lelis syndrome typically present with a variety of symptoms, which may include: | Individuals with Lelis syndrome typically present with a variety of symptoms, which may include: | ||
* [[Ichthyosis]]: A condition characterized by dry, scaly skin. | * [[Ichthyosis]]: A condition characterized by dry, scaly skin. | ||
* [[Eczema]]: An inflammatory condition of the skin causing itching and redness. | * [[Eczema]]: An inflammatory condition of the skin causing itching and redness. | ||
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* [[Hepatosplenomegaly]]: Enlargement of the liver and spleen. | * [[Hepatosplenomegaly]]: Enlargement of the liver and spleen. | ||
* [[Lymphadenopathy]]: Swollen lymph nodes. | * [[Lymphadenopathy]]: Swollen lymph nodes. | ||
== Genetics == | == Genetics == | ||
Lelis syndrome is inherited in an [[autosomal recessive]] manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific genes involved in Lelis syndrome are still under investigation, but mutations in certain genes related to skin and immune function have been implicated. | Lelis syndrome is inherited in an [[autosomal recessive]] manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific genes involved in Lelis syndrome are still under investigation, but mutations in certain genes related to skin and immune function have been implicated. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of Lelis syndrome is based on clinical evaluation, family history, and genetic testing. [[Skin biopsy]] and [[immunological studies]] may also be performed to support the diagnosis. | The diagnosis of Lelis syndrome is based on clinical evaluation, family history, and genetic testing. [[Skin biopsy]] and [[immunological studies]] may also be performed to support the diagnosis. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Lelis syndrome. Treatment is symptomatic and supportive, focusing on managing skin conditions, preventing infections, and addressing any other systemic issues. This may include: | There is currently no cure for Lelis syndrome. Treatment is symptomatic and supportive, focusing on managing skin conditions, preventing infections, and addressing any other systemic issues. This may include: | ||
* Topical treatments for skin conditions, such as moisturizers and corticosteroids. | * Topical treatments for skin conditions, such as moisturizers and corticosteroids. | ||
* Antibiotics and antifungals to treat and prevent infections. | * Antibiotics and antifungals to treat and prevent infections. | ||
* Regular monitoring and supportive care for growth and developmental issues. | * Regular monitoring and supportive care for growth and developmental issues. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Lelis syndrome varies depending on the severity of the symptoms and the effectiveness of the management strategies. Early diagnosis and comprehensive care can improve the quality of life for affected individuals. | The prognosis for individuals with Lelis syndrome varies depending on the severity of the symptoms and the effectiveness of the management strategies. Early diagnosis and comprehensive care can improve the quality of life for affected individuals. | ||
== See Also == | == See Also == | ||
* [[Ichthyosis]] | * [[Ichthyosis]] | ||
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* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Immune system]] | * [[Immune system]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External Links == | == External Links == | ||
{{No external links}} | {{No external links}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Dermatology]] | [[Category:Dermatology]] | ||
[[Category:Immunology]] | [[Category:Immunology]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
Latest revision as of 00:33, 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
| Lelis syndrome | |
|---|---|
| |
| Synonyms | Erythrokeratodermia with ataxia and deafness |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Erythrokeratodermia, ataxia, deafness |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Mutations in the POMP gene |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | |
| Prevention | |
| Treatment | Symptomatic management |
| Medication | |
| Prognosis | |
| Frequency | Rare |
| Deaths | |
Lelis syndrome is a rare genetic disorder characterized by a combination of skin abnormalities, immune system deficiencies, and other systemic manifestations. It is also known as Lelis syndrome type 1 or Lelis syndrome type 2, depending on the specific genetic mutation involved.
Clinical Features[edit]
Individuals with Lelis syndrome typically present with a variety of symptoms, which may include:
- Ichthyosis: A condition characterized by dry, scaly skin.
- Eczema: An inflammatory condition of the skin causing itching and redness.
- Recurrent infections: Due to immune system deficiencies, affected individuals are prone to frequent infections.
- Growth retardation: Delayed growth and development are common.
- Hepatosplenomegaly: Enlargement of the liver and spleen.
- Lymphadenopathy: Swollen lymph nodes.
Genetics[edit]
Lelis syndrome is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific genes involved in Lelis syndrome are still under investigation, but mutations in certain genes related to skin and immune function have been implicated.
Diagnosis[edit]
The diagnosis of Lelis syndrome is based on clinical evaluation, family history, and genetic testing. Skin biopsy and immunological studies may also be performed to support the diagnosis.
Treatment[edit]
There is currently no cure for Lelis syndrome. Treatment is symptomatic and supportive, focusing on managing skin conditions, preventing infections, and addressing any other systemic issues. This may include:
- Topical treatments for skin conditions, such as moisturizers and corticosteroids.
- Antibiotics and antifungals to treat and prevent infections.
- Regular monitoring and supportive care for growth and developmental issues.
Prognosis[edit]
The prognosis for individuals with Lelis syndrome varies depending on the severity of the symptoms and the effectiveness of the management strategies. Early diagnosis and comprehensive care can improve the quality of life for affected individuals.
See Also[edit]
References[edit]
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External Links[edit]
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