Trichothiodystrophy diagnosis and treatment

Last Updated on March 14, 2023 by Dr. Saqib Mueed

What is Trichothiodystrophy

This is an autosomal recessive disease. In symbolization form, it comes with brittle hair and intellectual impairment.

Firstly it was discovered in the year 1979. This disease actually in simple words is called TTD which stands for Trichothiodystrophy.

• The first word is Trico which means Hairs.
• The second word is Thio which means sulfur.
• The third is dystrophy which means abnormal development and growth.

Now we completely define it in such words that it is an autosomal inherited disease in which hairs are produced are sulfur deficient.

Classification

This disease has four subdivisions and these are the following.

• Amish hair syndrome
• BIDIS Syndrome
• Intellectual impairment decreased fertility syndrome
• Short Stature syndrome

Epidemiology

No exact information regarding Trichothiodystrophy epidemiology is present.

Diagnosis of Trichothiodystrophy

• Blood test
• X-ray analysis
• Skin test
• Hair microscopy
• Genetic test  ^[1]Sweet’s syndrome (orpha.net)

Treatment

No specific treatment is available, but management is necessary for kind of symptom.

Reviewed by:

Dr. Akhtar Nawaz Lak

MBBS, FCPS (Internal Medicine)

Ex. Medical Specialist, Services hospital, Lahore

Ex. Medical Specialist, Allied hospital, Faisalabad

Our reviewers’ details, Click Here