HAIM MUNK SYNDROME PDF

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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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Ultrastructural study and successful treatment with acitretin. Investigations Superficial palmar biopsy revealed marked hyperkeratosis with focal parakeratosis and acanthotic epidermis [ Figure 5 ].

Haim S, Munk J.

Rare Disease Database

Haim-Munk syndrme and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. J Munk, [2] who first described the disease in Both syndromes have severe early-onset periodontitis with loss of both dentitions, palmoplantar keratosis, and autosomal recessive inheritance.

Puliyel and Sridharan Iyer noted that the patients reported by Smith and Rosenzweig were related to the patients of Haim and Munk When the primary deciduous teeth erupt, the gums become red, swell, and bleed gingivitis.

By the age of five years, the deciduous teeth often may become loose and fall out.

Haim-Munk syndrome is a rare inherited disorder characterized by the development of dry scaly patches of skin that are abnormally red and thickened on the palms of the hands and soles of the feet palmoplantar hyperkeratosis.

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Our findings suggest it to be a case of HMS due to the presence of arachnodactyly and pes planus which are absent in PLS. In many cases diagnosis of Haim—Munk syndrome may be difficult in small children, as many symptoms can be confused with other skin abnormalities.

OMIM Entry – # – HAIM-MUNK SYNDROME; HMS

The CTSC gene regulates production encodes for of an enzyme i. 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.

Please consider making a donation now and again in the future. Salim Haim and Dr. About News Events Contact. Behrman RE, et al. The disorder is named after the investigators Haim S, Munk J who originally hajm the disease entity in among members of an extended Jewish family kindred from Cochin, India.

Although only arachnodactyly and pes planus were found in this case, still they can easily distinguish it from being a case of HMS. With seeming clinical improvement, the dose of Acitretin was reduced to 0. Mohan RS, Verma S. Indian Syndroem Dermatol Venereol Leprol ; Related articles Haim Munk syndrome palmo plantar keratoderma acetretin acroosteolysis cathepsin C gene.

Periodontosis usually results in the premature loss of teeth. The content of the website and databases of the National Organization for Rare Disorders NORD is copyrighted and may baim be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD.

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Sherak NB, Thomson G.

Haim-Munk Syndrome – NORD (National Organization for Rare Disorders)

However, most affected individuals develop chronic severe inflammation and degeneration of the tissues that surround and support the teeth gingivitis and periodontosis. Blackwell Scientific Publications, Syndroome. In most cases, individuals with Haim-Munk syndrome exhibit overgrowth hypertrophy of the sjndrome and toenails causing them to become abnormally thick to appear hooked and curved inward. LambaFarrukh Farazand Shruti Tandon. Footnotes Source of Support: Comparisons may be useful for a differential diagnosis:.

X-ray of skull and CT scan of head showed no abnormality. General examination showed symmetrical, well demarcated, keratotic syndrom confluent plaques affecting the skin of palms, soles and elbows [ Figure 3 ]. Photographs of elder boy. Australasian J Dermatol ; None, Conflict of Interest: A syndrome of keratosis palmo-plantaris congenita, pes planus, onychogryphosis, periodontosis, arachnodactyly and a peculiar acro-osteolysis.

The gums and the underlying ligaments and bones that support the teeth are usually involved. These reddened patches are usually confined to the undersides of the hands and feet, but may eventually spread to the knees and elbows.

Views Read Edit View history. Symptoms of the following disorders may be similar to those of Haim-Munk syndrome.

Limited success has been found in treating associated skin abnormalities with topical lubricants. Years Published,