Pili torti onychodysplasia

background

Pili torti onychodysplasia is a form of ectodermal dysplasia, one of a group of syndromes deriving from abnormalities of the ectodermal structures, which include the hair, teeth, nails, sweat glands, cranial-facial structure, and hands. These genetic disorders can be inherited in an autosomal dominant or recessive manner.
Pili torti onychodysplasia is known as a "pure" ectodermal dysplasia because symptoms affect only tissues derived directly from the ectoderm. Specific symptoms of pili torti onychodysplasia include fragile and twisted hair shafts, abnormal fingernails, and sparse scalp hair. Pili torti onychodysplasia was first observed in one patient in 1991. Only one other scientific report has described similar symptoms in a group of 27 individuals. These individuals displayed the symptoms listed above as well as dry skin, eczema, cleft lip and palate, and dental abnormalities. However, it is unclear whether these individuals had pili torti onychodysplasia or another ectodermal dysplasia with similar symptoms.
Pili torti onychodysplasia is a rare inherited genetic disorder that is passed down among family members. The condition follows an autosomal recessive pattern of inheritance, meaning that two copies of the defective gene are necessary for the disease to appear.
The genetic mutation that causes pili torti onychodysplasia is unknown. A rare disease, pili torti onychodysplasia and its subtypes affect fewer than 200,000 people in the U.S. population; however, the exact incidence of this disease is unknown.

Related Terms

Dysplastic nails, ectodermal dysplasia, onychodysplasia, pili torti, pure hair-nail type, twisted hair with nail dysplasias.