Trichothiodystrophy diagnosis and treatment

Table of Contents

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.

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

Written by: Dr. Muhammad Mohsin Ahsan

Reviewed by:
Dr. Shafaat Yar Khan  (Ph.D.) 
Medical University of Vienna, Austria 
Present: University of Sargodha, Pakistan

 

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