Autosomal Recessive Ichthyosis With Hypotrichosis Syndrome: Further Delineation Of The Phenotype
April 2008
in “
Clinical Genetics
”
TLDR A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
The study focused on Autosomal Recessive Ichthyosis with Hypotrichosis (ARIH) syndrome, characterized by congenital ichthyosis, abnormal hair, and corneal involvement, linked to a mutation in the ST14 gene. Previously identified in a consanguineous Israeli Arab family, this report described a second case in a female patient with a novel homozygous mutation, p.M1I. The patient exhibited congenital ichthyosis, light brown, curly, sparse hair that improved with age, and sparse body hair, eyebrows, and eyelashes. Unlike the first family, she did not have tooth abnormalities, and her ichthyosis was milder, though she experienced blepharitis without photophobia.
