Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. The periodontal disease associated with these syndromes is particularly aggressive and unresponsive to traditional periodontal therapies. As a result, most patients become edentulous by 15 years of age. This case report describes a patient with the cardinal features 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. In this case report, a year-old girl and her sibling are described who presented with the cardinal features of HMS.
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Alternative titles; symbols. Haim-Munk syndrome 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. Among members of a small community of Jews from Cochin, India so-called 'Black Jews' , Haim and Munk , Smith and Rosenzweig , and Puliyel and Sridharan Iyer described a rare syndrome of congenital palmoplantar keratosis, pes planus, onychogryphosis, periodontitis, arachnodactyly, and acroosteolysis.
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. Puliyel and Sridharan Iyer found 20 persons with Haim-Munk syndrome in 9 sibships over 4 generations of an inbred kindred. 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. Gorlin, R. 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. Haim, S. Keratosis palmo-plantaris congenita, with periodontosis, arachnodactyly and peculiar deformity of the terminal phalanges.
Hart, T. 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. Puliyel, J. A syndrome of keratosis palmo-plantaris congenita, pes planus, onychogryphosis, periodontosis, arachnodactyly and a peculiar acro-osteolysis.
Smith, P. Seven cases of Papillon-Lefevre syndrome. Periodontics 5: , 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 cathepsin C CTSC; on chromosome 11q NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.
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PheneGene Graphics Linear Radial. Michael J. Victor A. Creation Date:. Edit History:. Clinical Features. Molecular Genetics. Printed: June 5, Haim-Munk syndrome. Autosomal recessive.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Making a diagnosis for a genetic or rare disease can often be challenging.
MIFTS : Expand all tables. Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 56 52 Cochin Jewish Disorder 56 52 Hms 56 52 Palmoplantar Hyperkeratosis-Periodontopathia-Onychogryposis Syndrome Keratosis Palmoplantaris-Periodontopathia-Onychogryposis Syndrome
Click on image for details. Here, we present two cases of same family with HMS having all the cardinal features of HMS which includes palmo plantar keratoderma and periodontitis along with arachnodactyly, acroosteolysis, onychogryphosis, and marked osteopenia on hand wrist radiographs. 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. Dermatology Online Journal. Home Feedback Login.
Haim—Munk syndrome also known as " palmoplantar keratoderma with periodontitis and arachnodactyly and acro-osteolysis "  is a cutaneous condition caused, like Papillon-Lefevre Syndrome , by a mutation in the cathepsin C gene. Salim Haim and Dr. J Munk,  who first described the disease in 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.