Papillon-Lefèvre syndrome in four siblings treated with etretinate. A nine-year evaluation

Area of Science:

• Genetics
• Dermatology
• Pharmacology

Background:

• Papillon-Lefèvre syndrome is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and periodontitis.
• Familial cases are infrequently reported, making extensive case series valuable for understanding disease progression and treatment.

Observation:

• Four siblings, diagnosed with Papillon-Lefèvre syndrome between 8 and 12 years old in 1978, were studied.
• This cohort represents the second-largest reported sibship with this condition.
• The patients were products of a consanguineous marriage (second cousins) and shared the B5 locus on HLA typing.

Findings:

• The siblings received etretinate treatment for six years, followed by a 3.5-year evaluation period.
• No long-term adverse side effects associated with etretinate were observed in any of the four patients.
• The study highlights the potential safety of etretinate in managing Papillon-Lefèvre syndrome over an extended duration.

Implications:

• This case series provides crucial data on the long-term efficacy and safety of etretinate in a familial cohort of Papillon-Lefèvre syndrome.
• Findings suggest etretinate may be a viable therapeutic option for managing this rare condition with a favorable safety profile.
• Further research into genetic factors and therapeutic interventions for Papillon-Lefèvre syndrome is warranted.