Haim-Munk syndrome


Haim-Munk syndrome is an extremely rare genetic disorder similar to Papillion-Lefevre syndrome. Features include callous patches of skin on the palms of the hands and the soles of the feet, long pointy fingers, and degeneration of the tissues that surround and support the teeth.


The two major manifestations of Haim-Munk syndrome are dermatological abnormalities and juvenile periodontitis. Individuals identified with the Haim-Munk syndrome show more severe skin abnormalities than groups with Papillion-Lefevre syndrome. Extensive palmoplantar hyperkeratosis typically begins within the first two to three years of life. At birth the palms and soles are bright red in color and then progress to a callused and scaly appearance. As the patient gets older the disease often involves thick scaly patches on the entire front and back area of the hands and feet, as well as the elbows and knees. A typical pattern of periodontis with Haim-Munk syndrome is as follows: initially the deciduous (baby) teeth appear at the normal time but the gums proceed to swell and bleed. Usually all the deciduous teeth fall out by age four, the mouth then heals and the secondary teeth begin to appear, severe gingival inflammation develops and the majority, or all, of the permanent teeth often fall out by age 15. Individuals with Haim-Munk syndrome may also have some of the following signs and symptoms: * wasting (atrophy), or thickening, of the nails * a deformity of the fingers called arachnodactyly—abnormally long, thin, tapered fingers and toes * lack of normal blood flow to the extremities that results in numbness and tingling in the fingers and/or toes. It also can cause loss of bone tissue at the ends of the fingers and/or toes (acroosteolysis) * a curve of the bones in the hands causing claw-like features * flat feet (pes planus) * recurrent pus-forming (pyogenic) skin infections


There are no published diagnostic criteria for Haim-Munk syndrome. Researchers use clinical examination of inbred Jewish Cochin descendents to confirm the presence of Haim-Munk. Diagnosis of Papillion-Lefevre syndrome is confirmed by red, thick callused skin on the palms and soles at birth and dental problems that are usually present by age five. Affected individuals are diagnosed with Haim-Munk syndrome when all of the following features are present: * palmoplantar keratoderma * thick, rough, and scaly patches of skin on the forearms and legs * severe early onset periodontitis * arachnodactyly * abnormal changes of the nails Radiology is used to view the thin and tapering bone deformities in the fingers and dental problems associated with Haim-Munk syndrome. Genetic testing can confirm the mutation of the cathepsin C gene. Genotyping for polymorphic DNA markers (D11S1887, D11S1367, and D11S1367) are used to identify the presence of the cathepsin C gene mutations associated with Haim-Munk syndrome.


A normal life span has been reported for individuals with Haim-Munk syndrome. Loss of the baby teeth may occur by age six and loss of the permanent teeth by age 15; however, general health is not impaired and dentures are well tolerated.


Treatments include extraction of the teeth and use of dental prosthesis, or dentures. Medications are also used to treat skin lesions associated with this disorder.