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.
References:
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
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.
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.
ReplyDeleteMa-salama