Dermatopathia pigmentosa reticularis
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| Dermatopathia pigmentosa reticularis | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Dermatology, Genetics |
| Symptoms | Reticulate pigmentation, alopecia, nail dystrophy |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Mutations in the KRT14 gene |
| Risks | |
| Diagnosis | Clinical diagnosis, genetic testing |
| Differential diagnosis | |
| Prevention | |
| Treatment | Symptomatic treatment |
| Medication | |
| Prognosis | |
| Frequency | Rare |
| Deaths | |
Dermatopathia pigmentosa reticularis is a rare, genetic skin disorder characterized by hyperpigmentation, noncicatricial alopecia, and nail dystrophy. It is a form of Ectodermal dysplasia, a group of conditions which primarily affect the skin, hair, nails, sweat glands, and teeth.
Symptoms[edit]
The primary symptoms of Dermatopathia pigmentosa reticularis include:
- Hyperpigmentation: This is a condition where patches of skin become darker in color than the normal surrounding skin.
- Noncicatricial alopecia: This refers to hair loss that does not lead to scarring.
- Nail dystrophy: This is a condition characterized by the presence of abnormally shaped or sized nails.
Causes[edit]
Dermatopathia pigmentosa reticularis is caused by mutations in the KRT14 gene. This gene provides instructions for making a protein that is a crucial component of keratin intermediate filaments, which provide strength and resilience to skin cells.
Diagnosis[edit]
Diagnosis of Dermatopathia pigmentosa reticularis is based on the clinical symptoms and confirmed by genetic testing. The testing can identify mutations in the KRT14 gene.
Treatment[edit]
There is currently no cure for Dermatopathia pigmentosa reticularis. Treatment is symptomatic and supportive, focusing on managing the individual symptoms and complications.
See also[edit]
References[edit]
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