title: Haim-Munk syndrome.
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, such as Papillon-Lefèvre syndrome and prepubertal periodontitis. The periodontal disease associated with these syndromes is particularly aggressive and unresponsive to traditional periodontal therapies. As a result, most patients become edentulous by 15 years of age. This case report describes a patient with the cardinal features of Haim-Munk syndrome.
authors.affiliation: Department of Periodontics and Oral Implantology, Maulana Azad Institute of Dental Sciences, University of Delhi, Government of National Capital Territory of Delhi, India.
authors.forename: Priyanka
authors.initials: P
authors.lastname: Pahwa
authors.forename: Arundeep K
authors.initials: AK
authors.lastname: Lamba
authors.forename: Farrukh
authors.initials: F
authors.lastname: Faraz
authors.forename: Shruti
authors.initials: S
authors.lastname: Tandon