Nail–patella syndrome is an uncommon genetic syndrome seen in approximately one of every 50,000 infants. It is caused by a mutation within chromosome number 9 and is typically inherited from an affected parent. However, some cases have been documented where the mutation was brought about by a random mutation of the LMX1B gene within individuals with no family history of the disease.
Also known as iliac horn syndrome, hereditary onychoosteodysplasia (HOOD syndrome), Fong disease, and Turner-Kieser syndrome, this disease causes moderate to severe abnormalities within the connective tissues and collagen of the body. These anomalies result in the characterized deformation of the nails, knees, elbows, and pelvis this syndrome is known for.
The severity of symptoms caused by nail-patella syndrome can vary dramatically on a case-to-case basis. Within families having this disorder parents may be asymptomatic while their children have extremely severe presentations of the disease.
What are the Symptoms of NPS?
Anomalies within the nails are the most commonly presenting symptom within this disorder. The fingernails are affected more frequently than the toenails, with the thumbnails typically the most affected. Any nails which are affected by the disease will be either absent or severely underdeveloped with discolorations and pitting. One of the hallmark indications of this disorder are triangular cuticles.
Skeletal abnormalities involving the knees, elbows, and hips are also common with this disease. The patellae (kneecaps) may be small and haphazardly shaped or entirely absent, resulting in the need for leg braces in many instances. Some may also experience difficulties with their elbows. They may be angled away from the body, have atypical webbing, and/or be incapable of fully extending. Iliac horns, horn-shaped growths on the iliac bones of the pelvis, are also seen in many cases of nail-patella syndrome. While these projections do not cause any pain or other symptoms, they are one of the key factors in diagnosing this disorder as iliac horns are almost never seen in individuals without nail-patella syndrome.
The eyes and kidneys may also be affected. Those with nail-patella syndrome have a much higher risk of developing glaucoma early in life. A small percentage of those with the disease also develop kidney disease, which can lead to fatal kidney failure.
How is NPS Diagnosed?
Diagnosis of NPS can be made at birth through physical examination, x-rays, and genetic testing if the condition is believed to be present. However, it is common for the syndrome to persist within families, undiagnosed for generations. While there is no cure available for NPS, some symptom management and treatments are available and strongly recommended.
What are the Standard Treatments for NPS?
Treatment for NPS differs from case-to-case based on the symptoms being experienced by the affected individual.
All of those having nail-patella syndrome must undergo regular screening for renal disease and glaucoma so the conditions may be caught before progressing to dangerous stages. Surgery, medication, and physiotherapy are often the treatments for these disorders.
For the general pain and skeletal malformations seen with NPS, physical therapy, braces, and analgesics for joint pain are common. In severe cases, surgical treatments, such as realignment of the kneecaps, joint replacements, and reductions to the head of the radius, may be considered.
How Can Medical Cannabis Help NPS Sufferers?
Chronic, severe pain due to joint abnormalities and instability is common in nail-patella syndrome. Treatment generally revolves around working to lessen the severity of the symptoms, to reduce pressure within the eye in those which have glaucoma, and to inhibit any kidney complications from developing into renal failure.
Medical marijuana has been demonstrated to reduce eye pressure in glaucoma patients and is highly effective as a pain inhibitor. This is due to the anti-inflammatory and analgesic properties of the cannabinoids found in marijuana.
Medical Cannabis Laws Surrounds Illinois Dispensaries?
Nail-patella syndrome is a qualifying condition for medical cannabis in Illinois. The patient possession limit for this state is two and a half ounces per each 14-day period. Home cultivation is still not permitted.
Best Cannabis Products for NPS?
For glaucoma and chronic pain, the best medical cannabis strains available from Illinois dispensaries are believed to be:
• The Black – Grade A Indica with intense potency. Recommended for arthritis, chronic pain, cancer, gastrointestinal disorders, joint pain, migraine, multiple sclerosis, and seizures
• Blueberry – Grade A Indica Hybrid with extreme potency. Recommended for nocturnal use to control glaucoma and pain management to ensure a restful night.
• Blue Dragon – Grade A Indica Hybrid with a strong potency. Recommended for A.D.D, anxiety, arthritis, chronic pain, epilepsy, fibromyalgia, glaucoma, inflammation, multiple sclerosis, and seizures.
• Cherry Kola – Grade AAA Indica with an average potency of 17.3% THC and 19-20% total cannabinoids; recommended for glaucoma, pain management, and insomnia.
• Jack the Ripper – Grade A+ Sativa Hybrid with extreme potency. Recommended for chronic pain relief, glaucoma, arthritis, muscle spasms, and depression.
• Maui Waui – Grade A+ Sativa with moderate potency; recommended for anxiety, depression, pain, and glaucoma.