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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

Extraoral appearance. Note severe hyperkeratosis of (a) palms, (b) soles and (c) elbow
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Figure 0003: Extraoral appearance. Note severe hyperkeratosis of (a) palms, (b) soles and (c) elbow

Mentions: On intraoral examination, marked drifting of teeth was noticed. Her oral hygiene was extremely poor, with an abundance of plaque accumulation [Figure 2]. The gingiva was red, soft and edematous with profuse bleeding on probing. General examination showed symmetrical, well demarcated, keratotic and confluent plaques affecting the skin of palms, soles and elbows [Figure 3]. The lesions on the soles extended onto the lateral malleoli and the Achilles’ tendons. The skin was dry and rough to touch. The nails showed transverse grooving and slight pitting. The patient had a history of recurrent skin infections. Loss of the medial longitudinal arches of the feet was evident with bilateral pes planus [Figure 4].


Haim-Munk syndrome.

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

Extraoral appearance. Note severe hyperkeratosis of (a) palms, (b) soles and (c) elbow
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 0003: Extraoral appearance. Note severe hyperkeratosis of (a) palms, (b) soles and (c) elbow
Mentions: On intraoral examination, marked drifting of teeth was noticed. Her oral hygiene was extremely poor, with an abundance of plaque accumulation [Figure 2]. The gingiva was red, soft and edematous with profuse bleeding on probing. General examination showed symmetrical, well demarcated, keratotic and confluent plaques affecting the skin of palms, soles and elbows [Figure 3]. The lesions on the soles extended onto the lateral malleoli and the Achilles’ tendons. The skin was dry and rough to touch. The nails showed transverse grooving and slight pitting. The patient had a history of recurrent skin infections. Loss of the medial longitudinal arches of the feet was evident with bilateral pes planus [Figure 4].

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