Skin fragility-woolly hair-palmoplantar keratoderma syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Skin fragility-woolly hair-palmoplantar keratoderma syndrome | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = This condition is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Dermatology]], [[Genetics]] | |||
| symptoms = [[Skin fragility]], [[woolly hair]], [[palmoplantar keratoderma]] | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = Mutations in the [[DSP gene]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[clinical examination]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Symptomatic treatment]] | |||
| medication = | |||
| prognosis = | |||
| frequency = | |||
| deaths = | |||
}} | |||
'''Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome''' (SFWHPPK) is a rare genetic disorder characterized by [[skin fragility]], [[woolly hair]], and [[palmoplantar keratoderma]]. The syndrome is also known as ''[[Plakophilin-1 deficiency]]'' or ''[[Ectodermal dysplasia-skin fragility syndrome]]''. | '''Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome''' (SFWHPPK) is a rare genetic disorder characterized by [[skin fragility]], [[woolly hair]], and [[palmoplantar keratoderma]]. The syndrome is also known as ''[[Plakophilin-1 deficiency]]'' or ''[[Ectodermal dysplasia-skin fragility syndrome]]''. | ||
==Overview== | ==Overview== | ||
SFWHPPK is a type of [[ectodermal dysplasia]], a group of conditions affecting the skin, hair, nails, and sweat glands. The syndrome is caused by mutations in the [[DSP gene]], which provides instructions for making a protein called [[desmoplakin]]. This protein is essential for the normal structure and function of the skin and hair. | SFWHPPK is a type of [[ectodermal dysplasia]], a group of conditions affecting the skin, hair, nails, and sweat glands. The syndrome is caused by mutations in the [[DSP gene]], which provides instructions for making a protein called [[desmoplakin]]. This protein is essential for the normal structure and function of the skin and hair. | ||
==Symptoms== | ==Symptoms== | ||
The primary symptoms of SFWHPPK include skin fragility, which leads to blistering and erosions, especially on areas of the body that experience friction or trauma. Woolly hair refers to hair that is tightly curled and has a wool-like texture. Palmoplantar keratoderma is a condition that causes thickening of the skin on the palms of the hands and the soles of the feet. | The primary symptoms of SFWHPPK include skin fragility, which leads to blistering and erosions, especially on areas of the body that experience friction or trauma. Woolly hair refers to hair that is tightly curled and has a wool-like texture. Palmoplantar keratoderma is a condition that causes thickening of the skin on the palms of the hands and the soles of the feet. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of SFWHPPK is based on the clinical features, family history, and genetic testing. Genetic testing can confirm the presence of mutations in the DSP gene. | Diagnosis of SFWHPPK is based on the clinical features, family history, and genetic testing. Genetic testing can confirm the presence of mutations in the DSP gene. | ||
==Treatment== | ==Treatment== | ||
There is currently no cure for SFWHPPK. Treatment is symptomatic and supportive, focusing on managing the skin and hair symptoms. This may include the use of emollients and keratolytics for the skin, and gentle hair care to manage the woolly hair. | There is currently no cure for SFWHPPK. Treatment is symptomatic and supportive, focusing on managing the skin and hair symptoms. This may include the use of emollients and keratolytics for the skin, and gentle hair care to manage the woolly hair. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with SFWHPPK varies. Some individuals may have mild symptoms and lead relatively normal lives, while others may experience severe skin and hair symptoms that can impact their quality of life. | The prognosis for individuals with SFWHPPK varies. Some individuals may have mild symptoms and lead relatively normal lives, while others may experience severe skin and hair symptoms that can impact their quality of life. | ||
==See Also== | ==See Also== | ||
* [[Ectodermal dysplasia]] | * [[Ectodermal dysplasia]] | ||
* [[Desmoplakin]] | * [[Desmoplakin]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Skin conditions]] | [[Category:Skin conditions]] | ||
Latest revision as of 07:23, 6 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
| Skin fragility-woolly hair-palmoplantar keratoderma syndrome | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Dermatology, Genetics |
| Symptoms | Skin fragility, woolly hair, palmoplantar keratoderma |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Mutations in the DSP gene |
| Risks | |
| Diagnosis | Genetic testing, clinical examination |
| Differential diagnosis | |
| Prevention | |
| Treatment | Symptomatic treatment |
| Medication | |
| Prognosis | |
| Frequency | |
| Deaths | |
Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome (SFWHPPK) is a rare genetic disorder characterized by skin fragility, woolly hair, and palmoplantar keratoderma. The syndrome is also known as Plakophilin-1 deficiency or Ectodermal dysplasia-skin fragility syndrome.
Overview[edit]
SFWHPPK is a type of ectodermal dysplasia, a group of conditions affecting the skin, hair, nails, and sweat glands. The syndrome is caused by mutations in the DSP gene, which provides instructions for making a protein called desmoplakin. This protein is essential for the normal structure and function of the skin and hair.
Symptoms[edit]
The primary symptoms of SFWHPPK include skin fragility, which leads to blistering and erosions, especially on areas of the body that experience friction or trauma. Woolly hair refers to hair that is tightly curled and has a wool-like texture. Palmoplantar keratoderma is a condition that causes thickening of the skin on the palms of the hands and the soles of the feet.
Diagnosis[edit]
Diagnosis of SFWHPPK is based on the clinical features, family history, and genetic testing. Genetic testing can confirm the presence of mutations in the DSP gene.
Treatment[edit]
There is currently no cure for SFWHPPK. Treatment is symptomatic and supportive, focusing on managing the skin and hair symptoms. This may include the use of emollients and keratolytics for the skin, and gentle hair care to manage the woolly hair.
Prognosis[edit]
The prognosis for individuals with SFWHPPK varies. Some individuals may have mild symptoms and lead relatively normal lives, while others may experience severe skin and hair symptoms that can impact their quality of life.
See Also[edit]
| Genetic disorders | ||||||||
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This genetic disorder related article is a stub.
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| Dermatology and Skin conditions | ||||||||
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This skin condition related article is a stub.
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| Rare diseases | ||||||||||
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This rare disease related article is a stub.
|
