Papillon-Lefèvre or Haim-Munk Syndrome? Report on Two Sisters in a Consanguineous Family

Papillon-Lefèvre (PLS) and Haim-Munk (HMS) syndromes are rare autosomal recessive type IV palmar plantar keratosis (PPK), which are clinically different from other types of PPK by their association with aggressive periodontitis and genetically by the mode of transmission.

Two Jordanian sisters, aged 10 and 13 years, from a consanguineous family were preliminarily diagnosed as having PLS by a pediatric dentist who referred them to the periodontal clinic in May 2010 because of the presence of loose teeth and to a dermatologist for the management of existing skin lesions. Physical examination of the two sisters revealed severe bilateral hyperkeratotic lesions on the palms and soles extending to the lateral and dorsal aspects; bilateral pes planus; scaly patches on the knees and elbows; overgrown fingernails and toenails that were curved inward; and range of movement limitations in the fingers. The patients were treated with topical emollients and keratolytic preparations containing salicylic acid for the skin lesions. Oral radiographs showed generalized severe bone loss around the remaining primary and permanent teeth. Oral treatment included dental prophylaxis, chlorhexidine mouthrinse, amoxicillin syrup, and extraction of several teeth.

The two patients in this case report presented atypical symptoms of PLS. Mutational genetic analysis is proposed to confirm whether PLS and HMS are the same or two different symptoms.