A number sign (#) is used with this entry because of evidence that Haim-Munk syndrome (HMS) is caused by homozygous mutation in the gene encoding. Haim–Munk syndrome is a cutaneous condition caused, like Papillon-Lefevre Syndrome, by a mutation in the cathepsin C gene. It is named after Dr. Salim Haim. Abstract. Of the many palmoplantar keratoderma (PPK) conditions, only Papillon- Lefèvre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with.

Author: Volmaran Mazular
Country: Sweden
Language: English (Spanish)
Genre: Spiritual
Published (Last): 25 October 2017
Pages: 247
PDF File Size: 16.98 Mb
ePub File Size: 14.28 Mb
ISBN: 389-1-68565-962-7
Downloads: 48086
Price: Free* [*Free Regsitration Required]
Uploader: Aragami

It is also thought to play a role in the differentiation of certain tightly packed cells epithelium that form the protective outer layer of the skin, xyndrome as of the palms, soles, and knees, and bind gum tissues of the mouth gingiva to the tooth surface. Symptoms of the following disorders may be similar to those synerome Haim-Munk syndrome.

Report of two siblings of Northern India treated with acitretin. However, in some cases, hyperkeratosis may be present at birth congenital. Mohan RS, Verma S.


Australasian J Dermatol ; In many cases diagnosis of Haim—Munk syndrome may be difficult in small children, as many symptoms can be confused with other skin abnormalities. The proband had a metacarpal index of 9.

The Journal of Rheumatology. The syndrme factor reported by Hart et al ,[ 9 ] was the missense mutations affecting both the alleles of Cathepsin C gene, located on chromosome 11q Her oral hygiene was extremely poor, with an abundance of plaque accumulation [ Figure 2 ].


Haim-Munk haiim is an autosomal recessive disorder characterized by palmoplantar keratoderma, severe periodonitis, arachnodactyly, acroosteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers summary by Hart et al. Related articles Haim Munk syndrome palmo plantar keratoderma acetretin acroosteolysis cathepsin C gene. Together we are strong. Genodermatoses Palmoplantar keratodermas Syndromes affecting teeth Syndromes affecting the skin Rare syndromes.

Flat feet occurred in the persons with keratosis but not in unaffected sibs.

Haim–Munk syndrome

There was no instance of parent-to-child transmission and the parents were consanguineous in many cases. This article has been cited by.

The disorder is named after the investigators Haim S, Munk J who originally reported the disease entity in among members of mukn extended Jewish family kindred from Cochin, India.

J Indian Soc Periodontol. Syndromes of the Head and Neck.

Haim-Munk syndrome

Other treatment is symptomatic and supportive. The gingiva was red, soft and edematous with profuse bleeding on probing. Affected individuals also may have frequently recurring, pus-producing pyogenic skin infections.

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. The criteria for arachnodactyly was given by Parish[ 4 ] who suggested a dividing line between normal and abnormal at three standard deviation level of 8.

The range and severity of symptoms may vary from case to case. Report on Two Sisters in a Consanguineous Family. Nil Conflict of Interest: All studies receiving U. Oxford University Press; The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth.


Genetic diseases are determined by two genes, one received from the father and one from the mother. None, Conflict of Interest: CC ]. A typical pattern of periodontitis as reported in HMS was noticed in the proband with deciduous teeth appearing at the normal time but shedding by age of four.

We are determined to keep this website freely accessible. Treatment may require the coordinated efforts of a team of specialists.

Both the siblings were treated with cotrimoxazole, acetretin and topical keratolytics and followed munkk over ssyndrome period of one year, showed remarkable improvement in palmo plantar keratoderma and periodontitis. Support Center Support Center. His intraoral and cutaneous examination revealed similar findings. Information on current clinical trials is posted on the Internet at www.

Expert curators review the literature and organize it to facilitate your work.

PLS and HMS are difficult to differentiate unless the skeletal manifestations are taken into consideration. Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.

The pattern was entirely consistent with autosomal recessive inheritance. Diagnosis The diagnosis of Haim-Munk syndrome may be confirmed by a thorough clinical evaluation that includes a detailed patient history and identification of characteristic physical findings.