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Haim-Munk syndrome with erythroderma - A case report

Author(s)
Mahwish Zahoor Department of Dermatology, KEMU/ Mayo Hospital, Lahore, Pakistan
Shehla Shaukat Department of Dermatology, KEMU/ Mayo Hospital, Lahore, Pakistan
Amina Afzal Department of Dermatology, KEMU/ Mayo Hospital, Lahore, Pakistan
Maryam Rafat Department of Dermatology, KEMU/ Mayo Hospital, Lahore, Pakistan
Hamza Shaikh Department of Dermatology, KEMU/ Mayo Hospital, Lahore, Pakistan
Ijaz Hussain Department of Dermatology, KEMU/ Mayo Hospital, Lahore, Pakistan
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.
Publication Details
Page(s) 363-366
DOI DOI not available
Published Journal: Journal of Pakistan Association of Dermatologists, Volume: 30, Issue: 2, Year: 2020

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