Table of Contents > Conditions > Pili torti onychodysplasia Print

Pili torti onychodysplasia

Image

Related terms
Background
Signs and symptoms
Diagnosis
Complications
Treatment
Integrative therapies
Prevention
Author information
Bibliography
Causes
Risk factors

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

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.

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).

Bibliography
  1. 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.
  2. 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.
  3. National Foundation for Ectodermal Dysplasias. . Accessed April 15, 2008.
  4. Natural Standard: The Authority on Integrative Medicine. . Copyright © 2009.

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.

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.

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


The information in this monograph is intended for informational purposes only, and is meant to help users better understand health concerns. Information is based on review of scientific research data, historical practice patterns, and clinical experience. This information should not be interpreted as specific medical advice. Users should consult with a qualified healthcare provider for specific questions regarding therapies, diagnosis and/or health conditions, prior to making therapeutic decisions.

62 Marshall St
Rochester, NY 14607
585-454-2667
585-454-0343 (fax)
Email Our Store
Driving Directions

  STORE HOURS
 Mon8:00am-8:00pm
 Tue8:00am-8:00pm
 Wed8:00am-8:00pm
 Thu8:00am-8:00pm
 Fri8:00am-8:00pm
 Sat9:00am-7:00pm
 Sun10:00am-7:00pm
 

Co-op Connections

Follow us on Instagram!

Follow us on Twitter!

Join our Facebook community!

Email newsletter sign up

Email Newsletter Archive
Click here>>

Download The Rutabaga Rap

Rutabaga Rap Archive
Click here>>

About Our Co-op

Current Job Openings
See current openings>>

Top 10 Reasons for Shopping
Learn more>>

Why become an owner?
Learn why>>

Owner Application
Download (pdf)>>

All About Co-ops
Learn more>>

Our Board of Directors
Learn more>>

Global Ends Policy
Learn more>>

Bylaws
Learn more>>

Advertise in Our Newsletter
Learn more>>

Job Application
Download (pdf)>>

Discover your local co-op!