Kindler syndrome: Difference between revisions
From WikiMD's Wellness Encyclopedia
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[[File:autorecessive.svg| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Kindler syndrome | |||
| image = [[File:autorecessive.svg|200px]] | |||
| caption = Kindler syndrome is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = [[Kindler-Weary syndrome]] | |||
| pronounce = | |||
| specialty = [[Dermatology]], [[Genetics]] | |||
| symptoms = [[Skin blistering]], [[photosensitivity]], [[poikiloderma]], [[gingivitis]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = Mutations in the [[FERMT1]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[skin biopsy]] | |||
| differential = [[Epidermolysis bullosa]], [[poikiloderma congenitale]] | |||
| treatment = [[Wound care]], [[sun protection]], [[dental care]] | |||
| medication = | |||
| prognosis = Variable, depends on severity | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Kindler syndrome''' is a rare genetic disorder that affects the skin and mucous membranes. It is characterized by a combination of skin blistering, photosensitivity, and progressive poikiloderma. The syndrome is named after Theresa Kindler, who first described the condition in 1954. | |||
== Signs and Symptoms == | == Signs and Symptoms == | ||
Individuals with Kindler syndrome typically present with the following symptoms: | Individuals with Kindler syndrome typically present with the following symptoms: | ||
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* [[Mucosal involvement]]: Blistering and erosions can also affect the mucous membranes, including the mouth, eyes, and genitals. | * [[Mucosal involvement]]: Blistering and erosions can also affect the mucous membranes, including the mouth, eyes, and genitals. | ||
* [[Periodontitis]]: Severe gum disease is common in individuals with Kindler syndrome. | * [[Periodontitis]]: Severe gum disease is common in individuals with Kindler syndrome. | ||
== Genetics == | == Genetics == | ||
Kindler syndrome is inherited in an [[autosomal recessive]] manner. It is caused by mutations in the [[FERMT1]] gene, which encodes the protein kindlin-1. This protein is essential for the proper functioning of the skin and mucous membranes. | Kindler syndrome is inherited in an [[autosomal recessive]] manner. It is caused by mutations in the [[FERMT1]] gene, which encodes the protein kindlin-1. This protein is essential for the proper functioning of the skin and mucous membranes. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Kindler syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the FERMT1 gene. [[Skin biopsy]] and [[immunofluorescence]] studies can also aid in diagnosis by revealing characteristic changes in the skin. | Diagnosis of Kindler syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the FERMT1 gene. [[Skin biopsy]] and [[immunofluorescence]] studies can also aid in diagnosis by revealing characteristic changes in the skin. | ||
== Treatment == | == Treatment == | ||
There is no cure for Kindler syndrome, and treatment is primarily supportive. Management strategies include: | There is no cure for Kindler syndrome, and treatment is primarily supportive. Management strategies include: | ||
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* Regular dental care to manage periodontitis | * Regular dental care to manage periodontitis | ||
* Monitoring and treating infections promptly | * Monitoring and treating infections promptly | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Kindler syndrome varies. While the condition is chronic and can lead to significant morbidity, life expectancy is generally not reduced. Early diagnosis and appropriate management can improve the quality of life for affected individuals. | The prognosis for individuals with Kindler syndrome varies. While the condition is chronic and can lead to significant morbidity, life expectancy is generally not reduced. Early diagnosis and appropriate management can improve the quality of life for affected individuals. | ||
== See also == | |||
== | |||
* [[Epidermolysis bullosa]] | * [[Epidermolysis bullosa]] | ||
* [[Photosensitivity]] | * [[Photosensitivity]] | ||
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* [[Autosomal recessive inheritance]] | * [[Autosomal recessive inheritance]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
== See Also == | == See Also == | ||
* [[List of cutaneous conditions]] | * [[List of cutaneous conditions]] | ||
* [[List of genetic disorders]] | * [[List of genetic disorders]] | ||
== 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:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Autosomal recessive disorders]] | [[Category:Autosomal recessive disorders]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
Latest revision as of 01:35, 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
| Kindler syndrome | |
|---|---|
| |
| Synonyms | Kindler-Weary syndrome |
| Pronounce | |
| Specialty | Dermatology, Genetics |
| Symptoms | Skin blistering, photosensitivity, poikiloderma, gingivitis |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the FERMT1 gene |
| Risks | |
| Diagnosis | Genetic testing, skin biopsy |
| Differential diagnosis | Epidermolysis bullosa, poikiloderma congenitale |
| Prevention | N/A |
| Treatment | Wound care, sun protection, dental care |
| Medication | |
| Prognosis | Variable, depends on severity |
| Frequency | Rare |
| Deaths | |
Kindler syndrome is a rare genetic disorder that affects the skin and mucous membranes. It is characterized by a combination of skin blistering, photosensitivity, and progressive poikiloderma. The syndrome is named after Theresa Kindler, who first described the condition in 1954.
Signs and Symptoms[edit]
Individuals with Kindler syndrome typically present with the following symptoms:
- Skin blistering: Blisters form on the skin, especially in response to minor trauma or friction.
- Photosensitivity: Increased sensitivity to sunlight, leading to sunburns and skin damage.
- Poikiloderma: A condition marked by skin changes including pigmentation, atrophy, and telangiectasia.
- Mucosal involvement: Blistering and erosions can also affect the mucous membranes, including the mouth, eyes, and genitals.
- Periodontitis: Severe gum disease is common in individuals with Kindler syndrome.
Genetics[edit]
Kindler syndrome is inherited in an autosomal recessive manner. It is caused by mutations in the FERMT1 gene, which encodes the protein kindlin-1. This protein is essential for the proper functioning of the skin and mucous membranes.
Diagnosis[edit]
Diagnosis of Kindler syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the FERMT1 gene. Skin biopsy and immunofluorescence studies can also aid in diagnosis by revealing characteristic changes in the skin.
Treatment[edit]
There is no cure for Kindler syndrome, and treatment is primarily supportive. Management strategies include:
- Avoiding trauma and friction to the skin
- Using sunscreen and protective clothing to prevent sun damage
- Regular dental care to manage periodontitis
- Monitoring and treating infections promptly
Prognosis[edit]
The prognosis for individuals with Kindler syndrome varies. While the condition is chronic and can lead to significant morbidity, life expectancy is generally not reduced. Early diagnosis and appropriate management can improve the quality of life for affected individuals.
See also[edit]
- Epidermolysis bullosa
- Photosensitivity
- Poikiloderma
- Autosomal recessive inheritance
- Genetic disorders
See Also[edit]
References[edit]
<references group="" responsive="1"></references>
External Links[edit]
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