About Anonychia congenita totalis
What is Anonychia congenita totalis?
Anonychia congenita totalis is a rare genetic disorder characterized by the absence of all fingernails and toenails. It is caused by a mutation in the gene that is responsible for the formation of the nail bed. Symptoms of this disorder include the absence of fingernails and toenails, as well as the presence of small, white bumps on the fingertips and toes. In some cases, the affected person may also have a mild form of alopecia, or hair loss.
What are the symptoms of Anonychia congenita totalis?
The symptoms of Anonychia congenita totalis include:
-Absence of all fingernails and toenails
-Thin, fragile skin
-Abnormalities of the skin around the nail bed
-Abnormalities of the underlying bone structure
-Abnormalities of the sweat glands
-Abnormalities of the hair follicles
-Abnormalities of the skin pigmentation
-Abnormalities of the skin texture
-Abnormalities of the skin elasticity
-Abnormalities of the skin sensitivity
What are the causes of Anonychia congenita totalis?
Anonychia congenita totalis is a rare genetic disorder caused by mutations in the KRT14 gene. This gene is responsible for producing a protein called keratin 14, which is essential for the formation of the nail bed and nail plate. Mutations in this gene can lead to the complete absence of nails. The exact cause of the mutations is unknown, but it is believed to be inherited in an autosomal dominant pattern.
What are the treatments for Anonychia congenita totalis?
The treatments for Anonychia congenita totalis vary depending on the severity of the condition. Generally, treatment focuses on managing the symptoms and improving the appearance of the nails. This may include the use of topical creams, laser treatments, and nail reconstruction surgery. In some cases, medications such as retinoids may be prescribed to help stimulate nail growth. Additionally, physical therapy may be recommended to help improve the strength and flexibility of the hands and fingers.
What are the risk factors for Anonychia congenita totalis?
1. Genetic mutations: Anonychia congenita totalis is caused by mutations in the genes KRT16, KRT17, and KRT6A.
2. Family history: Anonychia congenita totalis is an inherited condition, so having a family history of the condition increases the risk of developing it.
3. Gender: Anonychia congenita totalis is more common in males than females.
Is there a cure/medications for Anonychia congenita totalis?
At this time, there is no known cure for Anonychia congenita totalis. However, there are medications that can be used to help manage the symptoms. These include topical steroids, antibiotics, and antifungal medications. Additionally, physical therapy and occupational therapy may be beneficial in helping to improve range of motion and strength.