Dermatopathia pigmentosa reticularis

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Dermatopathia pigmentosa reticularis
File:Autosomal dominant - en.svg
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

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

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

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

There is currently no cure for Dermatopathia pigmentosa reticularis. Treatment is symptomatic and supportive, focusing on managing the individual symptoms and complications.

See also

• Ectodermal dysplasia
• Hyperpigmentation
• Noncicatricial alopecia
• Nail dystrophy