title: Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings.
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.
authors.affiliation: Ayza Skin and Research Center, Lalamusa, Pakistan.
authors.forename: Shahbaz A
authors.initials: SA
authors.lastname: Janjua
authors.forename: Nadia
authors.initials: N
authors.lastname: Iftikhar
authors.forename: Ijaz
authors.initials: I
authors.lastname: Hussain
authors.forename: Amor
authors.initials: A
authors.lastname: Khachemoune
mesh_terms: 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
chemical_list: D020789:Cathepsin C