Is piebaldism a genetic disorder?
Piebaldism is an autosomal dominant genetic disorder, which means that 50 percent of those affected by piebaldism will pass the condition on to their offspring. Some of the genetic mutations in those people with piebaldism are found in the KIT and SNAI2 genes.
How do you inherit piebaldism?
This condition is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Is piebaldism dominant or recessive?
Piebaldism is a rare autosomal dominant disorder characterized by the congenital absence of melanocytes in affected areas of the skin and hair due to mutations of the c-kit gene, which affects the differentiation and migration of melanoblasts from the neural crest during the embryonic life.
What chromosome is piebaldism on?
Piebaldism results from mutations of the KIT gene on chromosome 4q11-q12. This codes for the tyrosine kinase transmembrane cellular receptor for mast/stem cell growth factor, a critical factor for melanoblast migration, proliferation, differentiation, and survival.
Is Piebaldism the same as vitiligo?
Piebaldism is unrelated to conditions such as vitiligo or poliosis. Although piebaldism may visually appear to be partial albinism, it is a fundamentally different condition.
How common is Piebaldism?
Piebaldism is a rare inherited disorder with an estimated incidence of less than 1 in 20000 individuals.
Can you dye piebaldism?
Although the depigmented areas of piebaldism are benign and stable, the appearance can be socially and psychologically debilitating for some patients. Treatment is challenging and focuses on improving cosmesis. Although temporary, cosmetic camouflage (make-up) and hair dye can improve quality of life.
Is piebaldism the same as vitiligo?
How is piebaldism different from vitiligo?
Piebald Trait In contrast to the absence of melanocytes in the hypopigmented skin of piebald patients, the lack of pigment in albinism is due to a deficit in the synthesis of the pigment melanin associated with mutations in the enzyme tyrosinase. In vitiligo, the patches of hypopigmented skin do lack melanocytes.
Can piebaldism affect eyes?
Although piebaldism may visually appear to be partial albinism, it is a fundamentally different condition. The vision problems associated with albinism are not usually present as eye pigmentation is normal….
| Piebaldism | |
|---|---|
| This condition affects melanocyte development | |
| Specialty | Dermatology |