Kirghizian dermatoosteolysis

• Kirghizian dermatoosteolysis is a form of ectodermal dysplasia that affects the ectoderm, the outer layer of the developing fetus. Because the ectodermal layer develops into many parts of a baby's body, including the eyes, skin, nails, and hair, these parts may not develop normally.
• Kirghizian dermatoosteolysis is an inherited genetic disorder passed down from parents to children. The exact genetic mutation or defect that causes Kirghizian dermatoosteolysis is not known. The disease is believed to follow an autosomal recessive pattern of inheritance.
• Kirghizian dermatoosteolysis is extremely rare. It was first observed by a doctor named Kozlova in 1983 in five siblings in a single family in Kirghiz, in Soviet Central Asia. The symptoms developed in infancy and included missing teeth, chronic skin problems, eye problems, nail symptoms, fever, joint pain, and breakdown of bone tissue. People with Kirghizian syndrome also have abnormalities of the hand and foot bones.
• People with Kirghizian dermatoosteolysis tend to be of normal intelligence and have normal functioning of other parts of the body, including the reproductive system. There is currently limited available information about patients with Kirghizian dermatoosteolysis, so the prevalence, epidemiology, and prognosis are unknown. Because the condition was first identified in Kirghiz people in central Asia, this population may have a higher incidence of the disease.

• Because Kirghizian dermatoosteolysis is inherited, a family history of the disorder is currently the only known risk factor. Because the condition was first identified in Kirghiz people in central Asia, this population may have a higher incidence of the disease.
• Kirghizian dermatoosteolysis is believed to follow an autosomal recessive pattern of inheritance, meaning that a person must inherit two copies of the defective gene, one from each parent, for the disease to appear. Individuals who inherit only one copy of the defective gene generally have no symptoms and are called carriers because they can pass on the disorder to their children.
• If one parent is a carrier, or has only one copy of the defective gene, then each child will have a 50% chance of inheriting one defective gene and of also being a carrier. If both parents are carriers, each child has a 25% chance of inheriting two defective genes, a 50% chance of inheriting only one defective gene, and a 25% chance of inheriting neither defective gene. Therefore, if both parents are carriers, about one out of four children will have Kirghizian dermatoosteolysis.
• It is currently unknown whether Kirghizian dermatoosteolysis can occur as the result of a spontaneous genetic mutation with no family history of the disease.

• General: The exact genetic mutation or defect that causes Kirghizian dermatoosteolysis is not known at this time.
• Autosomal recessive inheritance: Kirghizian dermatoosteolysis is believed to follow an autosomal recessive pattern of inheritance, meaning that a person must inherit two copies of the defective gene, one from each parent, for the disease to appear. Individuals who inherit only one copy of the defective gene generally have no symptoms and are called carriers because they can pass on the disorder to their children.
• If one parent is a carrier, or has only one copy of the defective gene, then each child will have a 50% chance of inheriting one defective gene and of also being a carrier. If both parents are carriers, each child has a 25% chance of inheriting two defective genes, a 50% chance of inheriting only one defective gene, and a 25% chance of inheriting neither defective gene. Therefore, if both parents are carriers, about one out of four children will have Kirghizian dermatoosteolysis.
• Random occurrence: It is currently unknown whether Kirghizian dermatoosteolysis can occur as the result of a spontaneous genetic mutation with no family history of the disease.

• General: In the limited reports available describing Kirghizian dermatoosteolysis, onset of symptoms occurs in infancy. Symptoms appear to stabilize by about age 11.
• Eyes: People with Kirghizian dermatoosteolysis may have keratitis, an inflammation of the eyes that can lead to impaired vision and blindness.
• Hands and feet: The hands and feet may also be affected in Kirghizian dermatoosteolysis. For example, the hands may appear clawlike and fingers and toes may be abnormally short.
• Nails: People with Kirghizian dermatoosteolysis have poorly developed nails on the fingers and toes. Nails may also be thick and grooved.
• Skeleton: People with Kirghizian dermatoosteolysis have skeletal problems, including breakdown of the bone tissue around joints, abnormal fusion of the bones in the feet, joint pain, wrist abnormalities, and uneven growth of the left versus the right side of the body, caused by altered growth of the knees. In some cases, individuals with Kirghizian dermatoosteolysis may have scoliosis, an abnormal curvature of the spine.
• Skin: People with Kirghizian dermatoosteolysis may have several skin problems, including recurrent skin ulcerations or wounds.
• Teeth: Individuals with Kirghizian dermatoosteolysis may have missing or poorly developed teeth.
• Other: Like most forms of ectodermal dysplasia, individuals with Kirghizian dermatoosteolysis may be prone to fevers.

• General: Kirghizian dermatoosteolysis may be suspected based on distinctive qualities of the teeth, skin, nails, and eyes. Nevertheless, a thorough family history and complete physical examination should be performed.
• Dental exam: A standard dental exam may identify dental abnormalities characteristic of Kirghizian dermatoosteolysis.
• Eye exam: An exam may be performed to assess the health of the eye. Using an ophthalmoscope, a microscope tailored to examine the eyes, an ophthalmologist can view the surface and inside of the eyes.
• Genetic tests: Currently, genetic tests are unavailable to detect carriers of Kirghizian dermatoosteolysis or to detect the presence of the disease in a developing fetus.
• Imaging: Imaging studies such as X-ray may allow clinicians to observe the condition of the bones of the hands and feet.

• Dental problems: Although it has not been specifically described in people with Kirghizian dermatoosteolysis, missing or poorly developed teeth in other forms of ectodermal dysplasia lead to dental complications including frequent cavities.
• Recurrent fever: Fever is both a symptom and a complication of Kirghizian dermatoosteolysis.
• Skin infection: Recurrent skin ulcerations can cause individuals with Kirghizian dermatoosteolysis to be prone to skin infections.
• Vision loss: Depending on the severity of defects in the corneas, people with Kirghizian dermatoosteolysis may experience a range of vision loss from mild decreases in visual acuity to total blindness.

• General: There is currently no known cure for Kirghizian dermatoosteolysis. Goals of treatment include relief of symptoms and prevention and management of complications. Because of limited mention in scientific literature, treatments discussed below are similarly limited.
• Eye surgery: Different types of eye surgery may be required if damage to the eyes is severe. Potential procedures may include keratectomies, in which keratotic lesions are removed from the surface of the eye; tarsorrhaphy, in which parts of the eyelids are sewn together to narrow the opening of the eye; and corneal transplantation, in which the corneas from a donor replace the damaged corneas of the patient. As with all organ transplants, corneal transplant is associated with a risk of organ rejection. Immunosuppressive drugs are prescribed to decrease this risk.
• Dental care: People with Kirghizian dermatoosteolysis should practice good preventive dental care, including brushing their teeth at least twice a day and flossing once a day, visiting the dentist every six months, and avoiding cavity-causing foods and beverages. In addition, crowns or composite fillings may be used on small teeth. Partial or full dentures, implants, or dental surgery may be needed for missing teeth.
• Skin care: Skin ulcerations should be managed with wound dressings and topical antibiotics to avoid infection.

Note
: Currently there is a lack of available scientific evidence on the use of integrative therapies for the treatment or prevention of Kirghizian dermatoosteolysis. The therapies listed below have been studied for related conditions, such as fever and cavities, should be used only under the supervision of a qualified healthcare provider, and should not be used in replacement of other proven therapies or preventive measures.

B

Good scientific evidence

• Probiotics
  : Probiotics are beneficial bacteria, sometimes referred to as "friendly germs," which help maintain the health of the intestinal tract and aid in digestion. They also help keep potentially harmful bacteria and yeasts in the gut under control. Short-term consumption of probiotic-containing cheese may be of benefit for dental cavities. There is also evidence that the probiotic Lactobacillus rhamnosus GG, when added to milk, may help reduce dental cavities in young children. Probiotics are generally considered safe and well tolerated. Avoid if allergic or hypersensitive to probiotics. Use cautiously if lactose intolerant.

C

Unclear or conflicting scientific evidence

• Betel nut
  : Betel nut use refers to a combination of three ingredients: the nut of the betel palm (Areca catechu), part of the Piper betel vine, and lime. There are known toxicities associated with betel nut use; because there are other proven products available for dental hygiene, the risks of betel nut may outweigh the potential benefits. Avoid if allergic to betel nut or other plants of the Palmaceae family. Avoid with asthma and hepatitis B or C. Use cautiously if taking anticholinergic or cholinergic drugs or drugs that may cause extrapyramidal effects (e.g., neuroleptics). Use cautiously with coronary artery disease, high blood pressure, diabetes, extrapyramidal disorders (e.g., Huntington's chorea and Parkinson's disease), urinary incontinence, mental illness, chest pain (angina), blood pressure disorders, irregular heartbeat, heart attack, diabetes, kidney disease, low calcium levels, cancer, thyroid disease, or vitamin D deficiency. Avoid if pregnant or breastfeeding.
• Black tea
  : Black tea is made from the dried leaves of Camellia sinensis, a perennial evergreen shrub. Black tea has a long history of use in China, dating back approximately 5,000 years. Green tea, black tea, and oolong tea are all derived from the same plant. There is currently limited available study of black tea as a mouthwash for the prevention of dental cavities (caries). It is not clear whether this is a beneficial therapy. Avoid if allergic or hypersensitive to caffeine or tannins. Skin rash and hives have been reported with caffeine ingestion. Use caution with diabetes. Use caution if pregnant. Heavy caffeine intake during pregnancy may increase the risk of SIDS (sudden infant death syndrome). Very high doses of caffeine have been linked to birth defects. Caffeine is transferred into breast milk. Caffeine ingestion by infants can lead to sleep disturbances and insomnia. Infants nursing from mothers consuming more than 500 milligrams of caffeine daily have been reported to experience tremors and heart rhythm abnormalities. Tea consumption by infants has been linked to anemia, decreased iron metabolism, and irritability.
• Bupleurum
  : Bupleurum (Bupleurum falcatum, Bupleurum fruticescens) has been widely used for more than 2,000 years in Asia and is used today in Japan and China for hepatitis, cirrhosis, and other conditions associated with inflammation. Chinese studies have suggested that bupleurum may be helpful in reducing fever. However, additional study is needed to draw a firm conclusion about its safety and effectiveness. In traditional Chinese medicine, bupleurum is often used in combination with other herbs. Avoid if allergic or hypersensitive to bupleurum, members of the Apiaceae or Umbelliferae (carrot) families, snakeroot, cow parsnip, or poison hemlock. Use cautiously if operating motor vehicles or hazardous machinery. Use cautiously with low blood pressure, diabetes, or edema. Use cautiously with a history of bleeding, hemostatic disorders, or drug-related hemostatic disorders. Use cautiously if taking blood thinners. Avoid if pregnant or breastfeeding.
• Clove
  : Clove is widely cultivated in Indonesia, Sri Lanka, Madagascar, Tanzania, and Brazil. It is used in limited amounts in food products as a fragrant flavoring agent, and as an antiseptic. Animal studies suggest that clove can lower fever, but reliable human studies are currently unavailable. Avoid if allergic to Balsam of Peru, clove, eugenol, or some licorice and tobacco products, such as clove cigarettes. Avoid with bleeding disorders and in pediatric patients. Avoid use of undiluted clove oil on the skin. Use cautiously with seizure disorders and kidney or liver dysfunction. Avoid if pregnant or breastfeeding.
• Green tea
  : Green tea is made from the dried leaves of Camellia sinensis, a perennial evergreen shrub. Green tea has a long history of use in China, dating back approximately 5,000 years. Green tea, black tea, and oolong tea are all derived from the same plant. There is limited study of tea as a mouthwash for the prevention of dental cavities (caries). It is not clear whether this is a beneficial therapy. Avoid if allergic or hypersensitive to caffeine or tannins. Use cautiously with diabetes or liver disease.

• Because Kirghizian dermatoosteolysis is an inherited disorder, there are currently no known means of prevention. There are no known genetic tests available to detect carriers of Kirghizian dermatoosteolysis or to detect the disorder in a developing fetus at this time.