Monday, 9 September 2013

Papillon–Léfèvre syndrome

Papillon-Léfèvre syndrome is a very rare syndrome of autosomal recessive inheritance (the prevalence has been estimated as 1–4 in 1 million) characterised by palmoplantar keratoderma (A), and periodontitis (C). The lesions may extend to the dorsal hands and feet and may also be present on the elbowsknees (B), and Achilles tendon areas. The condition usually has an early age of onset. The severity of the periodontal disease does not correlate with the severity of the skin lesions. Periodontitis leads to the loss of deciduous teeth by the age of 5 years unless treated; permanent teeth may be lost in the same way. Associated hyperhidrosis causes an unpleasant odour. The hair is usually normal. Other associated features have been reported such as pyogenic infections of the skin and internal organs and pseudoainhum of the thumb.

This condition is caused by a mutation in the lysosomal protease cathepsin C gene located at chromosome 11q14.1–q14.3This explains the predisposition to pyogenic infection, but the mechanism of keratoderma is not established.   The phenotypically related Haim–Munk syndrome (it combines the features of Papillon–Léfèvre syndrome with onychogryphosis, arachnodactyly and acro-osteolysis) is an allelic mutation. There may be mild phenotypic expression of the disease with late onset and mild skin or periodontal disease. In some late-onset patients, no mutations in the cathepsin C gene were found, suggesting the possibility of another genetic cause. Periodontitis is also present in the ‘HOPP’ syndrome (hypotrichosis, acro-osteolysis, palmoplantar keratoderma, and periodontitis) but there is no mutation in the cathepsin C gene.

Histopathological changes are non-specific. Treatment with oral acitretin has been effective in controlling the disease. 

This child has presented with hyperkeratosis of the palms and soles that has first developed during the first few months of life. The lesions spread on the elbows and knees over the following years. On examination, loss of dentition has also been noted. It has started since the eruption of deciduous teeth. A diagnosis of Papillon-Léfèvre syndrome was made. Treatment with acitretin has been discussed with the mother and it was decided to postpone it in view of the possible side-effect of premature epiphyseal closure. The patient is currently being treated with topical preparations for symptomatic relief.

This page was last updated in September 2013.

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Main Works of Reference List (The first eight are my top favourites)

  • British National Formulary
  • British National Formulary for Children
  • Guidelines (BAD - BASHH - BHIVA - Uroweb)
  • Oxford Handbook of Genitourinary Medicine, HIV, and Sexual Health
  • Oxford Handbook of Medical Dermatology
  • Rook's Textbook of Dermatology
  • Simple Skin Surgery
  • Weedon's Skin Pathology
  • A Concise Atlas of Dermatopathology (P Mckee)
  • Andrews' Diseases of the Skin
  • Andrology (Nieschlag E FRCP, Behre M and Nieschlag S)
  • Bailey and Love's Short Practice of Surgery
  • Davidson's Essentials of Medicine
  • Davidson's Principles and Practice of Medicine
  • Fitzpatrick's Colour Atlas and Synopsis of Clinical Dermatology (Klaus Wolff FRCP and Richard Allen Johnson)
  • Fitzpatrick’s Dermatology in General Medicine
  • Ganong's Review of Medical Physiology
  • Gray's Anatomy
  • Hamilton Bailey's Demonstrations of Physical Signs in Clinical Surgery
  • Hutchison's Clinical Methods
  • Lever's Histopathology of the Skin
  • Lever's Histopathology of the Skin (Atlas and Synopsis)
  • Macleod's Clinical Examination
  • Martindale: The Complete Drug Reference
  • Oxford Handbook of Clinical Examination and Practical Skills
  • Oxford Textbook of Medicine
  • Practical Dermatopathology (R Rapini)
  • Sexually Transmitted Diseases (Holmes K et al)
  • Statistics in Clinical Practice (D Coggon FRCP)
  • Stockley's Drug Interactions
  • Treatment of Skin Disease: Comprehensive Therapeutic Strategies
  • Yen & Jaffe's Reproductive Endocrinology