Genetics

22 August 2011

Pili torti onychodysplasia

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.

0

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.

RISK FACTORS

Currently, the only known risk factor for pili torti onychodysplasia is a family history of the disease. The condition is inherited, or passed down among family members, as an autosomal recessive trait, meaning that two copies of the defective gene are required for the disease to appear. The specific genetic mutation that causes pili torti onychodysplasia is unknown at this time.

CAUSES

General: Pili torti onychodysplasia is a rare inherited genetic disorder. The exact mutation or defect that causes the disorder has currently not been identified.

Autosomal recessive inheritance: Pili torti onychodysplasia is an autosomal recessive condition, meaning that an individual must inherit two copies of the defective gene, one from each parent, for the disease to appear. Individuals who inherit only one copy of the defective gene generally have no symptoms and are called carriers because they can pass on the disorder to their children.

If one parent is a carrier, or has only one copy of the defective gene, then each child has a 50% chance of inheriting one defective gene and of also being a carrier. If both parents are carriers, each child has a 25% chance of inheriting two defective genes, a 50% chance of inheriting only one defective gene, and a 25% chance of inheriting neither defective gene. Therefore, if both parents are carriers, about one out of four children will have pili torti onychodysplasia.

Random occurrence: It is currently unknown whether pili torti onychodysplasia can occur as the result of a spontaneous genetic mutation with no family history of the disease.

SIGNS AND SYMPTOMS

General: Pili torti onychodysplasia is known as a "pure" ectodermal dysplasia, which means that it affects only tissues of ectodermal origin. There are currently no known reports of these symptoms being life threatening, although they may have a mild effect on quality of life. To date, only two types of pure ectodermal dysplasias involving the hair and nails have been described.

Hair: The hair may be sparse, brittle, or absent. It may have the appearance of being twisted and may easily break off at a very short length, leaving stubble. In addition, the eyebrows and eyelashes may be sparse or completely absent.

Nails: Nails on the fingers and toes may be poorly developed, brittle, grooved, ridged, or abnormally thick.

DIAGNOSIS

General: Pili torti onychodysplasia may be diagnosed following a thorough family history and complete physical exam. The condition may be suspected based on the distinctive physical characteristics associated with the condition, specifically those of the hair and nails.

Genetic testing: While genetic testing is available for some forms of ectodermal dysplasia, these types of tests are currently unavailable for pili torti onychodysplasia. Because there is no definitive genetic test for pili torti onychodysplasia, there is a small chance that the symptoms of this condition could be confused for those of another ectodermal dysplasia with similar symptoms.

COMPLICATIONS

Complications seen in pili torti onychodysplasia are mild and non life-threatening. The condition of the nails may prevent people with pili torti onychodysplasia from doing certain activities, such as bowling.

People with pili torti onychodysplasia may develop psychosocial issues associated with deformities of the hair and nails.

TREATMENT

Currently there is no known cure for pili torti onychodysplasia, and treatment aims to reduce symptoms and prevent or treat complications. Patients with this condition should be regularly seen by a dermatologist and psychologist.

Skin softeners, such as salicylic acid, may be used on the nails to make them easier to groom.

INTEGRATIVE THERAPIES

Currently there is a lack of available scientific evidence on the use of integrative therapies for the treatment or prevention of pili torti onychodysplasia.

PREVENTION

Because pili torti onychodysplasia is an inherited condition, there is currently no known way to prevent the disease. Genetic tests are currently unavailable to detect the presence of pili torti onychodysplasia.

AUTHOR INFORMATION

This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).

  • Abramovits-Ackerman W, Bustos T, Simosa-Leon V, et al. Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with corkscrew hairs. J Am Acad Dermatol. 1992; 27(6 Pt 1): 917-21. View abstract
  • Calzavara-Pinton P, Carlino A, Benetti A, et al. Pili Torti Onychodysplasia . Report of a previously undescribed hidrotic ectodermal dysplasia. Dermatologica. 1991;182(3):184-7. Comment in Dermatologica. 1991;182(3):139-40. View abstract
  • National Foundation for Ectodermal Dysplasias. www.nfed.org. Accessed April 15, 2008.
  • Natural Standard: The Authority on Integrative Medicine. www.naturalstandard.com. Copyright © 2009.


Copyright © 2011 Natural Standard (www.naturalstandard.com)
 

Read Health24’s Comments Policy

Comment on this story
0 comments
Comments have been closed for this article.