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Haim-Munk syndrome.

Pahwa P, Lamba AK, Faraz F, Tandon S - J Indian Soc Periodontol (2010)

Bottom Line: 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.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Periodontics and Oral Implantology, Maulana Azad Institute of Dental Sciences, University of Delhi, Government of National Capital Territory of Delhi, India.

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.

No MeSH data available.


Related in: MedlinePlus

Pedigree chart of the consanguineous family (□: unaffected male; ○: unaffected female; ○=□ consanguineous marriage; ■: affected male; ●: affected female)
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Figure 0001: Pedigree chart of the consanguineous family (□: unaffected male; ○: unaffected female; ○=□ consanguineous marriage; ■: affected male; ●: affected female)

Mentions: A 12-year-old girl reported with the chief complaint of bleeding gums and mobility of teeth. She had normal eruption of deciduous teeth, but early shedding starting at three years of age with complete shedding by the age of six years. She also suffered from dry and thickened skin with recurrent skin infections. Family history revealed that she was born of consanguineous marriage [Figure 1] and there was presence of similar features in her younger brother.Figure 1


Haim-Munk syndrome.

Pahwa P, Lamba AK, Faraz F, Tandon S - J Indian Soc Periodontol (2010)

Pedigree chart of the consanguineous family (□: unaffected male; ○: unaffected female; ○=□ consanguineous marriage; ■: affected male; ●: affected female)
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3100867&req=5

Figure 0001: Pedigree chart of the consanguineous family (□: unaffected male; ○: unaffected female; ○=□ consanguineous marriage; ■: affected male; ●: affected female)
Mentions: A 12-year-old girl reported with the chief complaint of bleeding gums and mobility of teeth. She had normal eruption of deciduous teeth, but early shedding starting at three years of age with complete shedding by the age of six years. She also suffered from dry and thickened skin with recurrent skin infections. Family history revealed that she was born of consanguineous marriage [Figure 1] and there was presence of similar features in her younger brother.Figure 1

Bottom Line: 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.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Periodontics and Oral Implantology, Maulana Azad Institute of Dental Sciences, University of Delhi, Government of National Capital Territory of Delhi, India.

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.

No MeSH data available.


Related in: MedlinePlus