HMS disease, also known as Haim-Munk syndrome, is a rare genetic disorder characterized by a combination of distinctive features affecting the skin, teeth, bones, and connective tissues.
Here's a breakdown of its key characteristics:
- Palmoplantar hyperkeratosis: Thickening and hardening of the skin on the palms of the hands and soles of the feet.
- Severe early-onset periodontitis: Rapid bone loss around the teeth, leading to tooth loss at an early age.
- Onychogryposis: Thickening and curving of the fingernails and toenails.
- Pes planus: Flat feet.
- Arachnodactyly: Long, slender fingers and toes.
- Acroosteolysis: Gradual resorption of the bones at the tips of fingers and toes.
While the exact cause of HMS disease is unknown, it is believed to be inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is sufficient to cause the disorder.
Additional features associated with HMS may include joint hypermobility, skin fragility, and eye abnormalities.
Treatment for HMS focuses on managing symptoms, such as controlling periodontal disease, providing orthotics for flat feet, and addressing any complications arising from the condition. There is no cure for HMS.
