HAIM MUNK SYNDROME PDF

Symptoms[ edit ] Most of the signs of Haim—Munk syndrome begin to manifest during the first 2—4 years of life. Patients also demonstrate hypertrophy and curving of nails onychogryphosis , flat foot , extreme length and slenderness of fingers and toes arachnodactyly , and osteolysis involving the distal phalanges of fingers and toes acro-osteolysis. Causes[ edit ] Haim—Munk syndrome is an inherited autosomal recessive trait. This suggests that the CTSC gene was inherited from a common ancestor. The CTSC gene is thought to play a role in the differentiation of epithelial cells , resulting in the hyperkeratosis and erythema of the soles of feet and palms of hands, [5] [6] and connects the gingiva to the tooth surface. Identification of the physical symptoms is important to distinguish this disease from Papillon-Lefevre Syndrome.

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Although in some ways the disorder suggested the Papillon-Lefevre syndrome, the nail involvement and other associated features suggested that this was a distinct disorder. Puliyel and Sridharan Iyer noted that the patients reported by Smith and Rosenzweig were related to the patients of Haim and Munk Also, Hacham-Zadeh et al. Flat feet occurred in the persons with keratosis but not in unaffected sibs. Hart et al. Both syndromes have severe early-onset periodontitis with loss of both dentitions, palmoplantar keratosis, and autosomal recessive inheritance.

PLS also has calcification of dura mater and increased susceptibility to infections. Haim-Munk syndrome also has arachnodactyly, acroosteolysis, and onychogryphosis. Both disorders combine severe periodontitis with palmoplantar hyperkeratosis. The pattern was entirely consistent with autosomal recessive inheritance.

There was no instance of parent-to-child transmission and the parents were consanguineous in many cases. A shared common haplotype was found surrounding the locus in affected individuals, suggesting that they inherited the mutation from a single common ancestor and confirming recessive inheritance of HMS. In addition, Hart et al. Syndromes of the Head and Neck. New York: McGraw-Hill pub. Hacham-Zadeh, S. A genetic analysis of the Papillon-Lefevre syndrome in a Jewish family from Cochin.

Keratosis palmo-plantaris congenita, with periodontosis, arachnodactyly and peculiar deformity of the terminal phalanges. Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. Note: Erratum: J.

Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis. A syndrome of keratosis palmo-plantaris congenita, pes planus, onychogryphosis, periodontosis, arachnodactyly and a peculiar acro-osteolysis. Seven cases of Papillon-Lefevre syndrome. Periodontics 5: ,

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Haim-Munk syndrome

Listen Making a diagnosis for a genetic or rare disease can often be challenging. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Listen If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals.

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Haim–Munk syndrome

Although in some ways the disorder suggested the Papillon-Lefevre syndrome, the nail involvement and other associated features suggested that this was a distinct disorder. Puliyel and Sridharan Iyer noted that the patients reported by Smith and Rosenzweig were related to the patients of Haim and Munk Also, Hacham-Zadeh et al. Flat feet occurred in the persons with keratosis but not in unaffected sibs. Hart et al. Both syndromes have severe early-onset periodontitis with loss of both dentitions, palmoplantar keratosis, and autosomal recessive inheritance.

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Síndrome de Haim-Munk

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