Haim–Munk syndrome

Haim–Munk syndrome (HMS) is a rare autosomal recessive genetic disorder characterized by a combination of palmoplantar keratoderma, periodontitis, onychogryphosis, and acral osteolysis. It is named after the physicians Seymour Haim and J. Munk, who first described the condition.

Clinical Features

Haim–Munk syndrome presents with several distinctive clinical features:

• Palmoplantar keratoderma: Thickening of the skin on the palms of the hands and the soles of the feet.
• Periodontitis: Severe inflammation of the gums leading to early loss of teeth.
• Onychogryphosis: Abnormal curvature and thickening of the nails.
• Acral osteolysis: Bone resorption in the distal phalanges, leading to shortening of the fingers and toes.

Genetics

Haim–Munk syndrome is inherited in an autosomal recessive manner. The condition is caused by mutations in the CTSC gene, which encodes the enzyme cathepsin C. This enzyme is crucial for the activation of certain proteases involved in the immune response and skin integrity.

Diagnosis

Diagnosis of Haim–Munk syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the CTSC gene. Differential diagnosis includes other conditions with similar features, such as Papillon–Lefèvre syndrome.

Treatment

There is no cure for Haim–Munk syndrome. Treatment focuses on managing symptoms and may include:

• Regular dental care to manage periodontitis.
• Use of emollients and keratolytic agents for palmoplantar keratoderma.
• Surgical intervention for severe onychogryphosis.
• Monitoring and management of bone resorption in cases of acral osteolysis.

Prognosis

The prognosis for individuals with Haim–Munk syndrome varies. Early diagnosis and management of symptoms can improve the quality of life, but the condition can lead to significant morbidity due to dental issues and skin problems.

Related Pages

• Autosomal recessive
• Genetic disorder
• Palmoplantar keratoderma
• Periodontitis
• Onychogryphosis
• Acral osteolysis
• CTSC gene
• Papillon–Lefèvre syndrome

See Also

• List of cutaneous conditions
• List of genetic disorders