What is Haim-Munk Syndrome

Haim-Munk Syndrome is a rare genetic disorder that primarily affects the skin, hair, and nails. It is characterized by a combination of symptoms including palmoplantar keratoderma (thickening of the skin on the palms of the hands and soles of the feet), severe periodontitis (inflammation and destruction of the tissues surrounding the teeth), and onychogryphosis (abnormal thickening and curvature of the nails).

This syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. The specific gene associated with Haim-Munk Syndrome is called CTSC.

Individuals with Haim-Munk Syndrome may also experience other symptoms such as recurrent infections, joint abnormalities, and short stature. The severity of symptoms can vary among affected individuals.

Management of Haim-Munk Syndrome involves a multidisciplinary approach, including dermatologists, dentists, and genetic counselors. Treatment focuses on addressing the specific symptoms and may include regular dental care, skin moisturization, and orthopedic interventions if necessary.