Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings.
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.
Janjua
Shahbaz A
SA
Ayza Skin and Research Center, Lalamusa, Pakistan.
Iftikhar
Nadia
N
Hussain
Ijaz
I
Khachemoune
Amor
A
D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000473:pathology*; D020789:Cathepsin C / Q000235:genetics; D003241:Consanguinity; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics / Q000473:pathology*; D008297:Male; D010214:Papillon-Lefevre Disease; D010510:Periodontal Diseases / Q000473:pathology*; D013577:Syndrome
D020789:Cathepsin C