Siblings With Short Stature and Brittle Hair- Mystery Unveiled

Abstract

Siblings (6 years and 9 years old/ female) born to 3rd degree consanguineously married couple from a village in Telangana presented to us with complaints of dry scaling of skin present all over the body since birth, short stature, brittle hair and delayed development.Tay syndrome or trichothiodystrophy (TTD) is a very rare autosomal recessive disorder characterised by congenital ichthyosiform erythroderma and brittle sulphur-deficient hair. Other features include short stature, intellectual impairment, photosensitivity and multiple defects affecting organs mainly derived from neuroectoderm. Till date only less than 110 cases of Tay syndrome have been reported in literature worldwide and there are no cases of siblings with Tay syndrome reported in India till date. We present here a case of siblings from a South Indian family with Tay syndrome.