Cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis

BACKGROUND

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).

RISK FACTORS

General: Because it is an inherited condition, the only known risk factor for cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis is a family history of the disorder.

Autosomal recessive inheritance: Cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis is believed to be a recessive genetic disorder. Therefore, a person must inherit two copies of the defective gene, one from each parent. Individuals who inherit only one copy of the defective gene generally have no symptoms and are called carriers because they can pass 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 also of 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 in four children will have the disorder. As with most recessive disorders, cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis occurs more often in families that are closely related or consanguineous, meaning that they share a blood line.

Autosomal dominant inheritance: Limited information suggests that the disorder may be inherited as a dominant trait. Individuals receive two copies of most genes, one from the mother and one from the father. For a dominant disorder to appear, only one defective copy of the defective gene is necessary. If one parent has the disorder, there is a 50% chance that his or her child will have the disorder. If both parents have the disorder, there is a 75% chance that their child will have the disorder.

CAUSES

General: Cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis is one of several ectodermal dysplasias that affect the outer layer of a developing embryo. This layer, called the ectoderm, develops into the skin, teeth, eyes, nails, and hair. These body parts do not develop normally in individuals with this condition. As a result, they have cystic nodules on the eyelids, thickening of the skin on the palms of the hands and soles of the feet, missing teeth, sparse hair, and underdeveloped fingernails and toenails.

Inheritance: Based on limited reports of people with cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis, researchers believe that the condition may be inherited as an autosomal recessive trait. Therefore, a person must inherit two copies of the defective gene, one from each parent. Individuals who inherit only one copy of the defective gene generally have no symptoms and are called carriers because they can pass the disorder to their children.

Limited information suggests that cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis may be inherited as a dominant trait. For a dominant disorder to appear, the individual must inherit only one copy of the defective gene.

SIGNS AND SYMPTOMS

General: As in most ectodermal dysplasias, the hair, teeth, eyes, skin, and nails are affected in patients with cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis.

Eyes: People with this condition tend to develop cystic nodules and tumors on the upper and lower eyelids.

Hair: As in most forms of ectodermal dysplasia, people with this condition tend to have sparse and abnormal hair growth. The eyebrows, eyelashes, and body hair also tend to be missing or extremely sparse.

Nails: People with this condition tend to have underdeveloped or fragile nails on the fingers and toes.

Skin: People with this condition have thickening of the skin on the soles of the feet and the palms of the hands. They may also have cysts and cancerous or noncancerous tumors on the skin.

Teeth: People with this condition may have missing, abnormal, or underdeveloped teeth.

DIAGNOSIS

General: In general, cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis is diagnosed based on the observation of several physical characteristics of the nails, skin, teeth, and hair.

Genetic testing: Genetic testing is a type of medical test that identifies changes in chromosomes, proteins, or genes. Usually genetic testing is used to find changes associated with inherited disorders. Genetic testing is available for some types of ectodermal dysplasia but not specifically for cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis.

COMPLICATIONS

Complications seen in cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis are generally related to the symptoms of the disease and may include pain from the formation of cysts and tumors in the eyes and cracking and irritation of the thickened skin on the palms of the hands and soles of the feet. Individuals with the disorder may also be at higher risk for cancer, as these cysts and tumors grow and change.

TREATMENT

General: There is currently no known cure for cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis. Treatment is instead focused on managing symptoms.

Dermatologic: Applying retinoic acid, a form of vitamin A used to treat skin disorders, and skin softeners (keratolytics) to the palms of the hands and soles of the feet may help to reduce skin thickening. Cold compresses may be used to treat discomfort.

Oral hygiene: Regular tooth care to prevent cavities is recommended. People with cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis should brush their teeth twice a day or after meals and should receive regular preventive dental care every six months.

INTEGRATIVE THERAPIES

Currently there is a lack of scientific data on the use of integrative therapies for the treatment or prevention of cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis.

PREVENTION

General: Because cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis is an inherited condition, there is currently no known way to prevent the disease.

Genetic counseling: Individuals who have cystic eyelids-palmoplantar keratosis-hypodontia-hypotrichosis or family histories of the disease may meet with a genetic counselor to discuss the risks of having children with the disease. Because the exact genetic mutation that causes the condition is unknown, specific genetic tests are currently unavailable.

AUTHOR INFORMATION

This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).

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