J Pediatr Genet 2017; 06(04): 238-240
DOI: 10.1055/s-0037-1602801
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon–Lefèvre Syndrome?

Mostafa Ibrahim Mostafa
1  Division of Human Genetics and Genome Research, Department of Oro-Dental Genetics, National Research Centre, Cairo, Egypt
,
Maha Rashed Abouzaid
1  Division of Human Genetics and Genome Research, Department of Oro-Dental Genetics, National Research Centre, Cairo, Egypt
,
Manal Micheal Thomas
2  Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt
,
Ghada Yousef El-Kamah
2  Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt
› Author Affiliations
Further Information

Publication History

05 November 2016

05 April 2017

Publication Date:
02 May 2017 (eFirst)

Abstract

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, hence, provisionally diagnosed as PLS. Further clinical examination and detailed history taking shifted the diagnosis to CIPA. CIPA could be misdiagnosed as PLS. Congenital insensitivity to pain with anhidrosis, although rare, should be considered in the differential diagnosis of PLS.

Funding

This work was performed under the annual research fund for the National Research Centre.