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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Haim-Munk Syndrome – NORD (National Organization for Rare Disorders)
Abstract Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, eyndrome, pes planus, arachnodactyly, and acro-osteolysis. Published by Wolters Kluwer – Medknow. From Wikipedia, the free encyclopedia.
Superficial palmar biopsy revealed marked hyperkeratosis with focal parakeratosis and acanthotic epidermis [ Figure 5 ]. Haim—Munk syndrome also known as ” palmoplantar keratoderma with periodontitis and arachnodactyly and acro-osteolysis ”  is a cutaneous condition caused, like Papillon-Lefevre Syndromeby a mutation in the cathepsin C gene.
It has sometimes been referred to as Cochin Jewish disorder. Online since 15 th March ‘ Other treatment is symptomatic and supportive. We need long-term secure funding to provide you the information that you need at your fingertips.
Congenital abnormalities of the feet. Loss of the medial longitudinal arches of the feet was evident with bilateral pes planus.
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Both disorders combine severe periodontitis with palmoplantar hyperkeratosis. In addition, such analysis demonstrated that, in affected munl, a shared, common set of genes haplotype surrounded the gene location locus and appeared to be transmitted with it as a unit, suggesting that the CTSC gene mutation was inherited from a single common ancestor. According to the medical literature, parents of many individuals with Haim-Munk syndrome have been closely related by blood consanguineous.
Resources Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e. Mutation of the CTSC gene may result in reduced levels of cathepsin C or defective cathepsin C that cannot perform its normal functions in the body.
In some cases, skin abnormalities, including characteristic red, scaly thick patches of skin hyperkeratosis on the palms of the hands and the soles of the feet, may be apparent at birth congenital or during infancy. Am J Med Genet. Puliyel and Sridharan Iyer noted that the patients reported by Smith and Rosenzweig were related to the patients of Haim and Munk The pattern was entirely consistent with autosomal recessive inheritance.
His intraoral and cutaneous examination revealed similar findings. Behrman RE, et al.
The patient was referred to the department of dermatology, for the treatment of skin lesions. Nelson Textbook of Pediatrics. Affected Populations Haim-Munk syndrome is a rare genetic disorder that affects males and females in equal numbers.
Both jaim have severe early-onset periodontitis with loss of both dentitions, palmoplantar keratosis, and autosomal recessive inheritance. Treatment may require the coordinated efforts of a team of specialists. The cathepsin C gene is expressed in epithelial regions such as palms, soles, knees and keratinized oral gingiva.
Puliyel and Sridharan[ 7 ] were the first to describe flat feet in four cases of HMS.
Nil Conflict of Interest: A syndrome of keratosis palmoplantaris congenital, pes planus, onychogryphosis, periodontosis, arachnodactyly and a peculiar acro-osteolysis. Meleda disease is an extremely rare inherited skin disorder characterized by the slowly progressive development of dry, thick patches of skin on the palms of the hands and soles of the feet palmoplantar hyperkeratosis.