Palmoplantar ectodermal dysplasia: Difference between revisions
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{{Infobox medical condition | |||
| name = Palmoplantar ectodermal dysplasia | |||
| synonyms = [[PPE]] | |||
| field = [[Dermatology]], [[Genetics]] | |||
| symptoms = [[Hyperkeratosis]] of palms and soles, [[nail dystrophy]], [[alopecia]] | |||
| complications = [[Infection]], [[pain]], [[mobility issues]] | |||
| onset = [[Childhood]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Clinical examination]], [[genetic testing]] | |||
| differential = [[Palmoplantar keratoderma]], [[ectodermal dysplasia]] | |||
| prevention = [[Genetic counseling]] | |||
| treatment = [[Emollients]], [[keratolytics]], [[retinoids]] | |||
| medication = [[Topical treatments]], [[oral retinoids]] | |||
| prognosis = [[Variable]], depends on severity | |||
| frequency = [[Rare]] | |||
}} | |||
'''Palmoplantar ectodermal dysplasia''' (also known as '''PPED''') is a rare genetic disorder characterized by abnormalities in the skin on the palms of the hands and the soles of the feet, as well as other ectodermal tissues. | '''Palmoplantar ectodermal dysplasia''' (also known as '''PPED''') is a rare genetic disorder characterized by abnormalities in the skin on the palms of the hands and the soles of the feet, as well as other ectodermal tissues. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The primary symptoms of palmoplantar ectodermal dysplasia include thickened, scaly skin on the palms and soles ([[keratoderma]]), sparse hair ([[hypotrichosis]]), and abnormal nails ([[onychodystrophy]]). Other symptoms may include dental abnormalities, hearing loss, and vision problems. | The primary symptoms of palmoplantar ectodermal dysplasia include thickened, scaly skin on the palms and soles ([[keratoderma]]), sparse hair ([[hypotrichosis]]), and abnormal nails ([[onychodystrophy]]). Other symptoms may include dental abnormalities, hearing loss, and vision problems. | ||
== Causes == | == Causes == | ||
Palmoplantar ectodermal dysplasia is caused by mutations in the [[gene]]s that regulate the development and function of the skin and other ectodermal tissues. These mutations are usually inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder. | Palmoplantar ectodermal dysplasia is caused by mutations in the [[gene]]s that regulate the development and function of the skin and other ectodermal tissues. These mutations are usually inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of palmoplantar ectodermal dysplasia is based on the clinical symptoms and confirmed by genetic testing. The testing can identify mutations in the genes associated with this condition. | Diagnosis of palmoplantar ectodermal dysplasia is based on the clinical symptoms and confirmed by genetic testing. The testing can identify mutations in the genes associated with this condition. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for palmoplantar ectodermal dysplasia. Treatment is symptomatic and supportive, and may include skin care to manage the keratoderma, as well as dental care, hearing aids, and vision aids as needed. | There is currently no cure for palmoplantar ectodermal dysplasia. Treatment is symptomatic and supportive, and may include skin care to manage the keratoderma, as well as dental care, hearing aids, and vision aids as needed. | ||
== See also == | == See also == | ||
* [[Ectodermal dysplasia]] | * [[Ectodermal dysplasia]] | ||
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* [[Hypotrichosis]] | * [[Hypotrichosis]] | ||
* [[Onychodystrophy]] | * [[Onychodystrophy]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Dermatological conditions]] | [[Category:Dermatological conditions]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
{{dictionary-stub1}} | {{dictionary-stub1}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 02:21, 4 April 2025
| Palmoplantar ectodermal dysplasia | |
|---|---|
| Synonyms | PPE |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Hyperkeratosis of palms and soles, nail dystrophy, alopecia |
| Complications | Infection, pain, mobility issues |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Clinical examination, genetic testing |
| Differential diagnosis | Palmoplantar keratoderma, ectodermal dysplasia |
| Prevention | Genetic counseling |
| Treatment | Emollients, keratolytics, retinoids |
| Medication | Topical treatments, oral retinoids |
| Prognosis | Variable, depends on severity |
| Frequency | Rare |
| Deaths | N/A |
Palmoplantar ectodermal dysplasia (also known as PPED) is a rare genetic disorder characterized by abnormalities in the skin on the palms of the hands and the soles of the feet, as well as other ectodermal tissues.
Symptoms and Signs[edit]
The primary symptoms of palmoplantar ectodermal dysplasia include thickened, scaly skin on the palms and soles (keratoderma), sparse hair (hypotrichosis), and abnormal nails (onychodystrophy). Other symptoms may include dental abnormalities, hearing loss, and vision problems.
Causes[edit]
Palmoplantar ectodermal dysplasia is caused by mutations in the genes that regulate the development and function of the skin and other ectodermal tissues. These mutations are usually inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Diagnosis[edit]
Diagnosis of palmoplantar ectodermal dysplasia is based on the clinical symptoms and confirmed by genetic testing. The testing can identify mutations in the genes associated with this condition.
Treatment[edit]
There is currently no cure for palmoplantar ectodermal dysplasia. Treatment is symptomatic and supportive, and may include skin care to manage the keratoderma, as well as dental care, hearing aids, and vision aids as needed.
See also[edit]
References[edit]
<references />
