What are the other Names for this Condition? (Also known as/Synonyms)

• Cochin Jewish Disorder
• Keratosis Palmoplantaris with Periodontopathia and Onychogryposis
• Palmoplantar Keratoderma with Periodontitis, Arachnodactyly and Acro-Osteolysis 

What is Haim-Munk Syndrome? (Definition/Background Information)

• Haim-Munk Syndrome (HMS) is a highly infrequent genetic condition that manifests primarily as a skin and teeth disorder
• The skin (on both the hands and feet) develops scaly patches with pus secretion and inflammations. The structures supporting the teeth are usually malformed, or tend to severely degenerate over a period of time
• Treatment is symptomatic, using medications (for the skin condition) and surgical interventions (for dental issues). There may be a few complications, but the outcome of Haim-Munk Syndrome is generally good

Who gets Haim-Munk Syndrome? (Age and Sex Distribution)

• The onset of Haim-Munk Syndrome usually occurs after birth and in the early childhood phase (after age 3 years)
• Both male and female children are equally affected
• The syndrome is confined to a small group of native Jews belonging to Cochin (region in south India); hence, it is also known as Cochin Jewish Disorder

What are the Risk Factors for Haim-Munk Syndrome? (Predisposing Factors)

The risk factors of Haim-Munk Syndrome include:

• Haim-Munk Syndrome runs in the families and hence, children born in families with a medical history of the condition are at risk. Those having consanguineous partners or spouses have the greatest risk
• The Cochin Jews (an ethnic group) seem to exclusively have the risk of inheriting HMS

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Haim-Munk Syndrome? (Etiology)

• Haim-Munk Syndrome is an autosomal recessive, inherited condition that occurs due to a very complex genetic abnormality. Children are affected by the condition, when their parents are related ‘by blood’, to each other (or are consanguineous)
• The exact mechanism of how HMS occurs is unclear. The gene, identified as undergoing an anomalous mutation on chromosome 11, is ‘Cathepsin C’ gene, which leads to the alteration of certain amino acids, leading to a development of the condition

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Haim-Munk Syndrome?

The primary signs and symptoms of Haim-Munk Syndrome include:

• Development of thick, rough, and scaly skin on feet soles, palms of the hands, and at other locations on the arms and legs. These skin patches become red inflammations, secreting pus - a condition termed as palmoplantar keratosis
• Periodontal abnormalities: Severe malformations of teeth-supporting structures and gums develop progressively, causing premature loss of the entire set of teeth, by or before age 15
• Abnormal growth of nails on fingers and toes
• Other features noticed include:
  • Thin, long digits
  • Absent bone tissue at tips of digits (of both hands and feet)
  • Flat feet
  • Tingling sensation or numbness felt on the fingers and toes

How is Haim-Munk Syndrome Diagnosed?

Diagnostic tests that are performed for Haim-Munk Syndrome include:

• Physical exam with evaluation of medical history
• Biopsy of skin samples
• Radiographic study of dental features, and of the hands and feet
• Genetic study and analysis using blood samples
• Differential diagnosis, to eliminate Papillon-Lefèvre syndrome (a very similar kind of disorder)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Haim-Munk Syndrome?

Complications of Haim-Munk Syndrome include:

• Increased vulnerability to other skin infections
• Oral cavity problems and infections, such as gingivitis and bleeding gums

How is Haim-Munk Syndrome Treated?

Management of Haim-Munk Syndrome is undertaken on a case-by-case basis, with symptomatic consideration. The treatment methods involve:

• Skin infections are treated with medications and skin applications. Cleanliness is ensured to avoid secondary infections
• Periodontal defects may not respond to standard oral therapy techniques. Dental surgery to rectify malformations, use of dentures, and maintaining oral hygiene (regular use of mouthwash) is essential
• Surgical correction of bone abnormalities (observed on the hands and feet), if necessary

How can Haim-Munk Syndrome be Prevented?

• Currently, there are no specific methods or guidelines to prevent Haim-Munk Syndrome genetic condition
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy. This is particularly essential for individuals belonging to the Cochin Jewish group
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Haim-Munk Syndrome? (Outcomes/Resolutions)

• It is important to diagnose Haim-Munk Syndrome early and commence treatment of the skin and teeth condition. They respond well to treatment, though the skin infections may recur
• Physical and mental growth is not affected and individuals suffering from HMS have a normal lifespan

Additional and Relevant Useful Information for Haim-Munk Syndrome:

• A genetic disorder called Papillon-Lefèvre Syndrome (PLS), resembles Haim-Munk Syndrome closely, as the mutant gene responsible for both conditions, is the same (Cathepsin C gene)
• The Cochin Jews are religiously inclined to marry only within their own small community. Hence, consanguinity is of a very high order within this group