Haim-Munk syndrome with erythroderma - A case report

Authors

  • Mahwish Zahoor
  • Shehla Shaukat
  • Amina Afzal
  • Maryam Rafat
  • Hamza Shaikh
  • Ijaz Hussain

Keywords:

Aggressive periodontitis, Haim-Munk syndrome, Palmo-plantar keratoderma, Papillon Lefèvre syndrome

Abstract

Haim-Munk syndrome (HMS) is a rare autosomal recessive disorder of keratinization clinically characterized by early onset severe periodontitis, palmoplantar keratoderma, onychogryphosis and arachnodactyly. Pes planus, acro-osteolysis and recurrent pyogenic infections are the frequent findings. Lysosomal protease cathepsin C gene mutation is the key etiological factor. Diagnosis is established on the basis of clinical features. We described a case of HMS presented in our OPD, with an unusual presentation i.e. erythroderma. 

References

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Published

2020-09-30

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Case Reports

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