C3 Undiagnosed cardiomyopathy in a child with features of Papillon Lefevre syndrome

Abstract

Presenting problem: We report on a child under long‐term dental care for prepubertal periodontitis, premature root resorption of primary teeth, granulomatous, furrowed cobblestone oral mucosa and gingivae, hypodontia and peg shaped lateral incisors, caries and angular cheilitis who suffered a sudden unexpected death. Subsequent post mortem confirmed an undiagnosed dilated cardiomyopathy. This may have triggered ventricular fibrillation, which caused her death. Prior to her death, she had also been seen by several dermatologists with respect to palmar plantar hyperkeratosis, striae keratoderma, wiry hair and abnormal finger nails.Discussion: In spite of being seen by a number of clinicians in several centres in the UK a satisfactory clinical diagnosis was never established. A detailed search of the literature revealed no previously reported link between Papillon Lefevre syndrome and cardiac pathology. This case report details the patient's specific clinical presentation, which included features similar to ectodermal dysplasia, Papillon Lefevre or oral Crohn's associated with skin pathology. Possible diagnoses are suggested. Clinicians seeing similar features in future should send the child for cardiac screening to rule out any potentially life threatening pathology.