TY - JOUR
T1 - Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings
AU - Janjua, Shahbaz A.
AU - Iftikhar, Nadia
AU - Hussain, Ijaz
AU - Khachemoune, Amor
PY - 2008/2
Y1 - 2008/2
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/38449123360
U2 - 10.1016/j.jaad.2007.08.004
DO - 10.1016/j.jaad.2007.08.004
M3 - Article
C2 - 18222334
AN - SCOPUS:38449123360
SN - 0190-9622
VL - 58
SP - 339
EP - 344
JO - Journal of the American Academy of Dermatology
JF - Journal of the American Academy of Dermatology
IS - 2
ER -