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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

Histologic examination of palmar skin biopsy (H and E, ×10)
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Figure 0005: Histologic examination of palmar skin biopsy (H and E, ×10)

Mentions: Superficial palmar biopsy revealed marked hyperkeratosis with focal parakeratosis and acanthotic epidermis [Figure 5]. X-ray of skull and CT scan of head showed no abnormality. OPG [Figure 6] of the patient showed severe alveolar bone loss in relation to the existing permanent teeth. X-ray of hands revealed that the metacarpal index was 9.3, implying elongation of the metacarpals[4] [Figure 7]. In lateral projection of feet [Figure 8], the line of the first metatarsal made an angle (instead of coinciding) with the midtalar line revealing that the proband had flat feet.[5] Figure 5


Haim-Munk syndrome.

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

Histologic examination of palmar skin biopsy (H and E, ×10)
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 0005: Histologic examination of palmar skin biopsy (H and E, ×10)
Mentions: Superficial palmar biopsy revealed marked hyperkeratosis with focal parakeratosis and acanthotic epidermis [Figure 5]. X-ray of skull and CT scan of head showed no abnormality. OPG [Figure 6] of the patient showed severe alveolar bone loss in relation to the existing permanent teeth. X-ray of hands revealed that the metacarpal index was 9.3, implying elongation of the metacarpals[4] [Figure 7]. In lateral projection of feet [Figure 8], the line of the first metatarsal made an angle (instead of coinciding) with the midtalar line revealing that the proband had flat feet.[5] Figure 5

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