Kirghizian dermatoosteolysis Symptoms and Causes

causes

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.

diagnosis

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.

signs and symptoms

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.

complications

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.

risk factors

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.