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.
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However, in some cases, hyperkeratosis may be present at birth congenital.
Since then, the disorder has been described in over 50 individuals in several multigenerational Jewish families in Cochin. Photographs of elder boy. J Am Acad Dermatol ; Her oral hygiene was extremely poor, with an abundance of plaque accumulation [ Figure 2 ].
This suggests that the CTSC gene was inherited from a common ancestor. Views Read Edit View history.
Report of a case and review of the cases in the literature. Symptoms of the following disorders may be similar to those of Haim-Munk syndrome. Palmoplantar keratoderma PPK is a heterogeneous condition characterized by hyperkeratosis and erythema of the soles of feet and palms of hands.
OPG [ Figure 6 ] of the patient showed severe alveolar bone loss in relation to the existing permanent teeth. Haim Munk syndrome, palmo plantar keratoderma, acetretin, sydrome, cathepsin C gene. Physicians may carefully monitor affected individuals to help prevent and ensure early identification of infection.
Haim-Munk Syndrome – NORD (National Organization for Rare Disorders)
Syndromes of the Head and Neck. Note severe alveolar bone loss in relation to the permanent teeth. Both the siblings were treated with cotrimoxazole, acetretin and topical keratolytics and followed up over a period of one year, showed remarkable improvement in palmo plantar keratoderma and periodontitis. Haim-Munk syndrome is a rare genetic disorder characterized by the development of red, scaly thickened patches of skin on the palms of the hands and soles of the feet palmoplantar hyperkeratosisfrequent pus-producing pyogenic skin infections, overgrowth hypertrophy of the fingernails and toenails onychogryposisand degeneration of the structures that surround and support the teeth periodontosis.
The British Journal of Dermatology. His intraoral and cutaneous examination revealed similar findings.
Rare Disease Database
Most of the signs of Haim—Munk syndrome begin to manifest during the first 2—4 years of life. A shared common haplotype was found surrounding the locus in affected individuals, suggesting that munnk inherited the mutation from a single common ancestor and confirming recessive inheritance of HMS.
Years Published, Limited success has been found in treating associated skin abnormalities with topical lubricants. Report of a case and review of the cases in the literature.
This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. A genetic analysis of the Papillon-Lefevre syndrome in a Jewish family from Cochin.
BMC Med Genet ;4: The etiologic factor reported by Hart et al ,[ 9 ] was the missense mutations affecting both the alleles of Cathepsin C gene, located on chromosome 11q Affected skin may be unusually red erythema and become abnormally thick and scaly symmetrical cornification. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
Also, Hacham-Zadeh et al. Puliyel and Sridharan[ 7 ] were the first to describe flat feet in four cases of HMS.
Related ssyndrome Haim Munk syndrome palmo plantar keratoderma acetretin acroosteolysis cathepsin C gene. Keratosis palmo-plantaris congenita, with periodontosis, arachnodactyly and peculiar deformity of the terminal phalanges. In some rare cases, the upper portions of the hands and feet, the eyelids, the lips, and the cheeks may also be affected. Other treatment is symptomatic and supportive.
Photographs of younger girl. Pediatricians, surgeons, physicians who evaluate and treat skin problems dermatologistsdentists, specialists in treating disorders affecting the structures supporting and surrounding syndromr teeth periodontistsspecialists in treating disorders affecting the feet podiatristsand mmunk health care professionals may need to systematically and comprehensively plan an affected child’s treatment.
She also suffered from dry and thickened skin with recurrent skin infections. Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings. On intraoral examination, marked drifting of teeth was gaim. By the age of five years, the deciduous teeth often may become loose and fall out. Our findings suggest it to be a case of HMS due to the presence of arachnodactyly and pes planus which are absent in PLS.
How to cite this URL: The patient was referred to the department of dermatology, for the treatment of skin lesions. The range and severity of symptoms may vary from case to case.