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Published on: October 20, 2019
Haim-Munk syndrome.
Priyanka Pahwa1, Arundeep K Lamba, Farrukh Faraz
1Department of Periodontics and Oral Implantology, Maulana Azad Institute of Dental Sciences, University of Delhi, Government of National Capital Territory of Delhi, India.
Journal of Indian Society of Periodontology
|July 16, 2011
Summary
Haim-Munk syndrome is a rare genetic disorder causing severe skin and nail issues, along with aggressive periodontitis leading to early tooth loss. Genetic mutations in the cathepsin C gene are identified as the cause.
Area of Science:
- Genetics
- Dermatology
- Periodontology
Background:
- Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization.
- It is characterized by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis.
- Germline mutations in the lysosomal protease cathepsin C gene are the identified genetic cause.
Observation:
- The periodontal disease in Haim-Munk syndrome is aggressive and unresponsive to conventional treatments.
- Patients typically become edentulous by 15 years of age.
- This report details a patient exhibiting the primary characteristics of Haim-Munk syndrome.
Findings:
- Germline mutations in the cathepsin C gene are linked to Haim-Munk syndrome.
- This genetic defect also underlies related conditions like Papillon-Lefèvre syndrome and prepubertal periodontitis.
- The study highlights the severe periodontal manifestations associated with these genetic defects.
Implications:
- Understanding the genetic basis of Haim-Munk syndrome can inform diagnostic approaches.
- This knowledge may lead to the development of targeted therapies for aggressive periodontitis in affected individuals.
- Early diagnosis and management are crucial for improving patient outcomes and preventing premature tooth loss.
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