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.
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