Última actualización:
February 12, 2008
Años publicados: 1996, 2001, 2008
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 hyperkeratosis), frequent pus-producing (pyogenic) skin infections, overgrowth (hypertrophy) of the fingernails and toenails (onychogryposis), and degeneration of the structures that surround and support the teeth (periodontosis). Periodontosis usually results in the premature loss of teeth. Additional features associated with the disorder may include flat feet (pes planus); abnormally long, slender fingers and toes (arachnodactyly); loss of bone tissue at the ends of the fingers and/or toes (acroosteolysis); and/or other physical findings. Haim-Munk syndrome is inherited as an autosomal recessive trait.
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). Such patches may appear around the age of one to five years. However, in some cases, hyperkeratosis may be present at birth (congenital). These reddened patches are usually confined to the undersides of the hands and feet, but may eventually spread to the knees and elbows. In some rare cases, the upper portions of the hands and feet, the eyelids, the lips, and the cheeks may also be affected. Affected individuals also may have frequently recurring, pus-producing (pyogenic) skin infections.
In individuals with Haim-Munk syndrome, the teeth usually appear to form and erupt normally. However, most affected individuals develop chronic severe inflammation and degeneration of the tissues that surround and support the teeth (gingivitis and periodontosis). The gums and the underlying ligaments and bones that support the teeth are usually involved. When the primary (deciduous) teeth erupt, the gums become red, swell, and bleed (gingivitis). The mouth may become inflamed (stomatitis), lymph nodes may swell (regional adenopathy), and abnormal «tissue pockets» may form in the gums causing susceptibility to recurring bacterial infections. By the age of five years, the deciduous teeth often may become loose and fall out. Without appropriate treatment, most of the permanent teeth may be lost in the same manner by the age of approximately 16 years. Both deciduous and permanent teeth are usually affected in the order of their eruption.
In most cases, individuals with Haim-Munk syndrome exhibit overgrowth (hypertrophy) of the fingernails and toenails causing them to become abnormally thick to appear hooked and curved inward. Most affected individuals may also have flat feet (pes planus) and/or abnormally long, slender fingers and toes (arachnodactyly).
In addition, some individuals with Haim-Munk syndrome also experience numbness or tingling due to a lack of normal blood flow to the fingers and/or toes when exposed to cold temperatures (Raynaud’s phenomenon). Bone tissue at the ends of the fingers and/or toes (acroosteolysis) may become frail and degrade in some cases. These findings (i.e., involving the nails, hands, and feet) may be helpful in distinguishing this disorder from Papillon-Lefevre syndrome.
In one reported cases, an individuals with Haim-Munk syndrome develop destructive inflammation of the joints (arthritis) of the wrists and shoulders.
Haim-Munk syndrome is inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.
Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%.
According to the medical literature, parents of many individuals with Haim-Munk syndrome have been closely related by blood (consanguineous). If both parents carry an altered (mutated) gene for the disorder, there is an increased risk that their children may inherit the two genes necessary for the development of the disorder.
Genetic analysis of several affected families (kindreds) suggests that Haim-Munk syndrome may be due to mutations of a gene (known as cathepsin C [CTSC]) located on the long arm (q) of chromosome 11* (11q14.1-q14.3). In addition, such analysis demonstrated that, in affected individuals, 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.
Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as «p» and a long arm identified by the letter «q.» Chromosomes are further subdivided into bands that are numbered. Therefore, chromosome 11q14.1 refers to band 14.1 on the long arm of chromosome 11.
Researchers also have found that certain mutations of the CTSC gene may cause Papillon-Lefevre syndrome (allelic disorder). (An allele is one of two or more alternative forms of a gene that may occupy a particular chromosomal location.) Papillon-Lefevre syndrome is a rare syndrome characterized by certain features similar to those seen in Haim-Munk syndrome. (For further information, please see the «Related Disorders» section of this report below.)
The CTSC gene regulates production (encodes for) of an enzyme (i.e., a lysosomal protease) known as cathepsin C that is expressed in various organs and tissues. It is also thought to play a role in the differentiation of certain tightly packed cells (epithelium) that form the protective outer layer of the skin, such as of the palms, soles, and knees, and bind gum tissues of the mouth (gingiva) to the tooth surface. 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.
Haim-Munk syndrome is a rare genetic disorder that affects males and females in equal numbers. The disorder is named after the investigators (Haim S, Munk J) who originally reported the disease entity in 1965 among members of an extended Jewish family (kindred) from Cochin, India. Since then, the disorder has been described in over 50 individuals in several multigenerational Jewish families in Cochin. It has sometimes been referred to as Cochin Jewish disorder.
The diagnosis of Haim-Munk syndrome may be confirmed by a thorough clinical evaluation that includes a detailed patient history and identification of characteristic physical findings. 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. In most cases, Haim-Munk syndrome may not be firmly distinguished from other disorders with similar skin abnormalities until the inflammation and degeneration of the tissues surrounding and supporting the teeth (periodontium) becomes apparent. This usually occurs between the third and fifth year of life, when the infant teeth (deciduous) begin to erupt.
In addition, identification of physical findings specific to Haim-Munk syndrome is necessary to distinguish this disorder from Papillon-Lefevre Syndrome. These findings may include the abnormal growth of fingernails and toenails (onychogryphosis), unusually long, slender fingers and toes (arachnodactyly), heightened sensitivity of the fingers and toes to cold temperatures, loss of bone tissue in fingers and toes (acroosteolysis), and/or flat feet (pes planus).
Treatment
The treatment of Haim-Munk syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, physicians who evaluate and treat skin problems (dermatologists), dentists, specialists in treating disorders affecting the structures supporting and surrounding the teeth (periodontists), specialists in treating disorders affecting the feet (podiatrists), and other health care professionals may need to systematically and comprehensively plan an affected child's treatment.
Physicians may carefully monitor affected individuals to help prevent and ensure early identification of infection. If infection occurs, antibiotic therapy may be prescribed.
Limited success has been found in treating associated skin abnormalities with topical lubricants. In some cases, surgery and skin grafts may be used to alleviate skin problems. Use of special footwear may help affected individuals who exhibit flat feet (pes planus). Protective clothing may alleviate the discomfort experienced during exposure to cold temperatures.
Genetic counseling will be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., dental and skin abnormalities, etc.].)
TEXTBOOKS
Behrman RE, et al., eds. Nelson Textbook of Pediatrics. 15th ed. Philadelphia, PA: W.B. Saunders Company; 1996:1872.
Champion RH, et al., eds. Textbook of Dermatology. 5th ed. Cambridge, MA: Blackwell Scientific Publications, Inc.; 1992:1377-79.
Buyse ML. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications, Inc.; 1990:904, 1213.
Gorlin RJ, et al., eds. Syndromes of the Head and Neck. 3rd ed. New York, NY: Oxford University Press; 1990:853-54.
JOURNAL ARTICLES
Cury VF, Gomez RS, Costa JE, et al. A homozygous cathepsin C mutation associated with Haim-Munk syndrome. Br J Dermatol. 2005;152:353-6.
Lidar M, Zlotogorski A, Langevitz P, Tweezer-Zaks N, Zandman-Goddard G. Destructive arthritis in a patient with Haim-Munk syndrome. J Rheum. 2004;31:814-817.
Hart TC, Hart PS, Michalec MD, et al. Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. J Med Genet. 2000;37:88-94.
Hart TC, Stabholz A, Meyle J, et al. Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis. J Periodont Res. 1997;32:81-89.
Hattab FN, Rawashdeh MA, Yassin OM, al-Momani AS, al-Ubosi MM. Papillon-Lefevre syndrome: a review of the literature and report of 4 cases. J Periodontol. 1995;66:413-20.
Nazzaro V, Blanchet-Bardon C, Mimoz C, Revuz J, Puissant A. Papillon-Lefevre syndrome. Ultrastructural study and successful treatment with acitretin. Arch Dermatol. 1988;124:533-39.
Puliyel JM, Sridharan Iyer KS. A syndrome of keratosis palmoplantaris congenita, pes planus, onychogryphosis, periodontosis, arachnodactyly and a peculiar acro-osteolysis. Br J Dermatol. 1986;115:243-48.
Haneke E. The Papillon-Lefevre syndrome: keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature. Hum Genet. 1979;51:1-35.
Hacham-Zadeh S, Schaap T, Cohen MM. A genetic analysis of the Papillon-Lefevre syndrome in a Jewish family from Cochin. Am J Med Genet. 1978;2:153-57.
Haim S, Munk J. Keratosis palmo-plantaris congenita, with periodontosis, arachnodactyly and a peculiar deformity of the terminal phalanges. Br J Dermatol. 1965;77:42-54.
FROM THE INTERNET
McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:245010; Last Update:04/25/2007. Available at: https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245010 Accessed on: September 25, 2007.
McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:245000; Last Update:11/07/2006. Available at: https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245000 Accessed on: September 25, 2007.
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The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
View reportOnline Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.
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