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Cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis
Cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis is one of several ectodermal dysplasias, disorders that affect the outer layer of a developing embryo. This layer, called the ectoderm, develops into the skin, teeth, eyes, nails, and hair. As its name suggests, this disease is characterized by cystic nodules on the eyelids, thickening of the skin on the palms of the hands and soles of the feet, missing teeth, and sparse, abnormal hair growth. In addition, people with this condition tend to have underdeveloped fingernails and toenails.Cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis is an extremely rare condition, with about only 10 cases reported in the scientific literature. While the cause and incidence of this condition is unknown, researchers believe that the disorder is inherited as an autosomal recessive trait. This means that individuals must inherit two copies of the defective gene, one from each parent, to develop the disease. Incidence of the disease is higher among people whose parents are related to one another (consanguineous).
Related Terms
Autosomal recessive disorders, consanguineous, eccrine tumors with ectodermal dysplasia, ectodermal dysplasia, ectodermal dysplasia syndrome, genodermatosis, hypodontia, hypotrichosis, keratosis palmoplantaris, Schopf-Schulz-Passarge syndrome.
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