Mahwish Zahoor, Shehla Shaukat, Amina Afzal, Maryam Rafat, Hamza Shaikh, Ijaz Hussain.
Haim-Munk syndrome with erythroderma - a case report.
J Pak Assoc Derma Jan ;30(2):363-6.

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.  

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