A patient with Tay's syndrome

Area of Science:

• Pediatric Dermatology
• Genetics
• Biochemistry

Background:

• Tay's syndrome is a rare genetic disorder.
• Congenital ichthyosis presents with dry, scaling skin from birth.
• Trichothiodystrophy is characterized by brittle hair with reduced sulfur content.

Observation:

• A 4-year-old girl presented with features of congenital ichthyosis.
• The patient exhibited abnormal hair growth, a hallmark of trichothiodystrophy.
• Microscopic examination revealed brittle hair shafts with characteristic light and dark banding.

Findings:

• The patient's hair shafts displayed alternating light and dark banding under polarizing microscopy.
• Hair cystine content was significantly reduced at 4.6% compared to the control value of 8.4%.

Implications:

• This case highlights the complex presentation of Tay's syndrome.
• Understanding hair shaft abnormalities in trichothiodystrophy can aid in diagnosis.
• Reduced hair cystine content provides biochemical evidence for the condition.