Sunday, July 19, 2015

Tay Syndrome (Trichothiodystrophy)

Presented by  Amira Abdel Azim MD, MRCP (UK) and  Rasha El Barbary  MD Egypt (the case presented to us at AL Zahraa University hospital Egypt)

HPI:  An 11 years old girl presented with skin and hair problems dating since birth. She was deaf  (had previously been subjected to a failed trial of cochlear transplantation) and had severe eye problems causing blindness expect for light recognition of one eye. Mentality was normal in proportion to her sensory defect. There was no history of consanguinity nor history of similar conditions in the family.

O/E:  On examination the child was cooperative, alert and responsive to the directions of her mother. She was completely deaf, almost completely blind except for slight light recognition of one eye.
Her skin was very dry with fine scales dating since birth yet there was no history of collodion baby.  There were erythematous plaques on the flexures as well as perioral, she had mild ectropion and  palmoplantar keratoderma.

On examination of the scalp: she had scaly scalp, areas of hypotrichosis and yellowish dull lusterless brittle hair. There was loss of the eyelashes and eyebrows.
The child was physically not compatible with her age and was very thin. She also had skeletal abnormalities  in the form of  asymmetry of the lower limbs and syndactyly.

Clinical images: 

 Lab: no abnormality detected.

Therapy:  Topical  moisturizers and  keratolytics in the form of urea 10% cream was  given  for her scaly skin.
She has already been consulted by an ENT specialist, ophthalmologists and orthopedics.

Diagnosis and comments:  Our clinical diagnosis was icthyosis with brittle hair suggestive of Tay syndrome.

1. Brittle hair and ichthyosis in the newborn: A case of Tay syndrome
Paula Karina N Gonzales-Carait, Marie Eleanore O Nicolas
Indian J Paediatric Dermatol. 2014:15;127-129

Tay syndrome is a rare autosomal recessive disorder characterized by brittle hair and congenital ichthyosis. It is one of the syndromes of trichothiodystrophy - a group of DNA repair disorders with wide range of phenotypic expressions unified by the presence of sulfur-deficient brittle hair.
  Free Full Text Online  

2. Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome.
Lambert WC1, Gagna CE, Lambert MW. 
Adv Exp Med Biol. 2010;685:106-10.

1 comment:

  1. Professor Khalifa Sharquie from Baghdad University writes: "I wonder if they can estimate the level of hair sulfur as a support for diagnosis of this very rare syndrome, otherwise it could be mixed up with other combination of brittle hair, ichthyosis and dermatitis. Ichthyosis is commonly associated with developmental defects like slow walking and others .Thanks for reporting this interesting case.


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