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

Mostafa Ibrahim Mostafa; Maha Rashed Abouzaid; Manal Micheal Thomas; Ghada Yousef El-Kamah

doi:10.1055/s-0037-1602801

Journal of Pediatric Genetics, Table of Contents

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

¹Division of Human Genetics and Genome Research, Department of Oro-Dental Genetics, National Research Centre, Cairo, Egypt

,

Maha Rashed Abouzaid

¹Division of Human Genetics and Genome Research, Department of Oro-Dental Genetics, National Research Centre, Cairo, Egypt

,

Manal Micheal Thomas

²Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt

,

Ghada Yousef El-Kamah

²Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt

› Author Affiliations

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.

Keywords

early loss of teeth - congenital insensitivity to pain with anhidrosis - Papillon–Lefèvre syndrome

Full Text

References

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