Poikiloderma Congenita
Poikiloderma Congenita Causes
The disease is an autosomal recessive disorder and the mutations can be found on the gene's chromosome 8.
Poikiloderma Congenita Definition
Poikiloderma congenita, or Rothmund-Thomson syndrome, is a genetic disease characterized by the degeneration of the skin accompanied by stunted growth, cataracts, deformed nasal bridge, and other malformations in the nails, bones and teeth.
Poikiloderma Congenita Diagnosis
The disease can be diagnosed by observing the given symptoms on the patient.
Poikiloderma Congenita Symptoms and Signs
People affected by the disease suffer from red patches on the skin and dilation of the blood vessels. Depigmentation of the skin color also occurs. Craniofacial deformities also arise as the affected infant grows, and bone defects characterized by underdeveloped hands and feet are observed.
Poikiloderma Congenita Treatment
There is no exact treatment yet for the disease.