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: Shahbaz A Janjua, Nadia Iftikhar, Ijaz Hussain, Amor Khachemoune
• Journal: Journal of the American Academy of Dermatology (J Am Acad Dermatol) Vol. 58 Issue 2 Pg. 339-44 (Feb 2008) ISSN: 1097-6787 [Electronic] United States
• PMID: 18222334 (Publication Type: Journal Article)

Chemical References

• Cathepsin C

Topics

• Adolescent
• Adult
• Bone Diseases, Developmental (pathology)
• Cathepsin C (genetics)
• Consanguinity
• Female
• Humans
• Keratoderma, Palmoplantar (genetics, pathology)
• Male
• Papillon-Lefevre Disease
• Periodontal Diseases (pathology)
• Syndrome