Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings - 24/04/13
Doi : 10.1016/j.jaad.2007.08.004
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.
Le texte complet de cet article est disponible en PDF.Abbreviations used : CTSC, HMS, PLS, PPK
Plan
| Funding sources: None. |
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| Conflicts of interest: None declared. |
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| Presented at the First International Congress of Teledermatology in Graz, Austria, on November 9, 2006. |
© 2008
American Academy of Dermatology, Inc.. Publié par Elsevier Masson SAS. Tous droits réservés.
Vol 58 - N° 2
P. 339-344 - février 2008 Retour au numéro
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