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Journal of the American Academy of Dermatology
Volume 58, n° 2
pages 339-344 (février 2008)
Doi : 10.1016/j.jaad.2007.08.004
Case Reports

Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings
 

Shahbaz A. Janjua, MD a, Nadia Iftikhar, MRCP, FCPS b, Ijaz Hussain, FCPS c, Amor Khachemoune, MD, CWS d,
a Ayza Skin and Research Center, Lalamusa, Pakistan 
b Department of Dermatology, Military Hospital, Rawalpindi, Pakistan 
c Department of Dermatology, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Pakistan 
d Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, New York 

Reprint requests: Amor Khachemoune, MD, CWS, Ronald O. Perelman Department of Dermatology, New York University School of Medicine, 530 First Ave, Suite 7R, New York, NY 10016.
Abstract

Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Recently, germline mutations in the lysosomal protease cathepsin C gene have been identified as the underlying genetic defect in Haim-Munk syndrome and in the clinically related disorders, Papillon-Lefèvre syndrome and prepubertal periodontitis.

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Abbreviations used : CTSC, HMS, PLS, PPK



 Funding sources: None.
 Conflicts of interest: None declared.
 Presented at the First International Congress of Teledermatology in Graz, Austria, on November 9, 2006.



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