Ontology highlight
ABSTRACT:
SUBMITTER: Mostafa MI
PROVIDER: S-EPMC5683952 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Journal of pediatric genetics 20170502 4
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by early loss of teeth with hyperkeratosis of the palms and soles. Congenital insensitivity to pain with anhidrosis (CIPA) is a disorder of decreased pain sensation, decreased sweating, recurrent infections, and fever. Here, we report a 5-year-old girl born to consanguineous parents with a family history of a similarly affected sibling. The girl presented with early loss of teeth and palmoplantar hyperkeratosis, ...[more]