Many skin conditions are genetic. Most of these conditions are inherited, though some do occur from a sporadic change in the DNA of a gene. These conditions cause a variety of symptoms such as very dry, tight skin; blistering; and abnormal skin texture. Genetic inheritance can also lead to an increased chance for skin cancer and other features, according to the 2007 text "Thompson & Thompson Genetics in Metabolism (7th Edition)."
Ichthyoses
Ichthyoses cause very dry, thick scaly skin. There are many different forms: X-linked ichthyosis, lamellar ichthyosis, ichthyosis valgaris and others. In these conditions, a person can be mildly or severely affected depending on their particular form. Complications include frequent infections and increased scarring. X-linked ichthyosis is the most common, occurring once in every 2,000 to 10,000 males, according to "Thompson & Thompson Genetics in Metabolism (7th Edition)."
Epidermolysis Bullosa
Epidermolysis bullosa is a group of disorders where the skin is very fragile and blisters easily. There are several different subtypes, though epidermolysis bullosa simplex is the most common. According to "GeneReviews: Epidermolysis Bullosa Simplex", most cases of epidermolysis bullosa are inherited from a parent or a sporadic genetic event causes the disease. The blisters can be mild or severe, causing scarring. Other complications include frequent infections, dehydration and other medical problems.
Darier Disease
Individuals with Darier disease form wart-like lesions on the skin. "Genetics Home Reference: Darier Disease" describes the lesions as often firm and yellow in color, commonly occurring on the forehead, upper arms, chest, back, knees and elbows. Other features of Darier disease include nail abnormalities and skin pits in the palms or soles of the feet. This syndrome occurs from a sporadic change, or mutation, in the ATP2A2 gene at birth--though sometimes it is inherited. A subform of Darier, called linear Darier disease, is not inherited, but occurs due to changes in the ATP2A2 gene thoughout an individual's lifetime.
Gorlin Syndrome
Individuals with Gorlin syndrome have an increased risk for certain types of cancer, especially basal cell carcinoma--a type of skin cancer. It is also called nevoid basal cell carcinoma syndrome. Tumors tend to develop in late childhood and adolescence. People with Gorlin syndrome are at increased risk for other types of tumors compared to the general population. Commonly, an affected individual also had an affected parent according to "Genetics Home Reference: Gorlin syndrome".
Hypohidrotic Ectodermal Dysplasia
Hypohidrotic ectodermal dysplasia is one of nearly 150 different types of ectodermal dysplasias, in which common features are abnormal development of skin, nails, teeth and other tissues. The "Genetics Home Reference: Hypohidrotic Ectodermal Dysplasia" explains people with this disease have fewer sweat glands than average causing a reduced or inability to sweat. Since sweating helps regulate body temperature, people with HED can become overheated quickly causing heat stroke and other complications. Sparse hair, absent or malformed teeth and distinctive facial characteristics are other features of this syndrome. HED can be inherited in a variety of ways, but the most common form, affecting mostly males, is inherited from the mother, who is an unaffected carrier.
References
- "Thompson & Thompson Genetics in Metabolism (7th Edition)"; Robert Nessbaum; 2007
- GeneReviews: Epidermolysis Bullosa Simplex
- Genetics Home Reference: Darier Disease
- Genetics Home Reference: Gorlin Syndrome
- Genetics Home Reference: Hypohidrotic Ectodermal Dysplasia
