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Skin Genetic Diseases: Keratosis, Epidermolysis Bullosa, Lamellar Ichthyosis

Your skin is affected by numerous external factors, such as your environment or your skin care routine. Underneath the surface, your skin is affected by a more permanent factor: your genes.

Genes, are what make you, you. They are made up of DNA, which determines what you will inherit from your family members. DNA does this by telling your cells how to make proteins that create all the structures and functions in your body. You have an estimated 20,000 to 25,000 different genes.

With inheriting your dimples, curly hair or blue eyes, skin problems can also be inherited. This is collectively called genodermatoses, or genetic dermatological disorders.

Genes have a significant influence on skin because skin is made of so many proteins. The main structure of the skin is created by collagen, which is a protein. It provides strength and stability, and as you age the collagen strength decreases, which is why sagging and wrinkles develop over the years. Melanin is another type of protein, which is responsible for giving your skin its color.

Genetic factors are hereditary, which means if your parents had or have a certain trait or condition, there’s a good chance you’re going to develop it as well and carry it onto the next generation.

Check in tomorrow to see what skin problems are hereditary and what to look out for in your family health history!

The following skin disorders can be inherited:

  1. Darier-White disease: Also known as, keratosis follicularis. It is characterized by abnormal hardening of skin cells on the outer layer of the skin. The process, keratinization, is the same as well healthy skin cells are converted into fingernails, except with Darier-White disease, it happens in other places along the skin.
  2. Epidermolysis bullosa: A condition that causes the skin to blister at the slightest pressure or temperature change. This could occur anywhere on their body. In most cases it is inherited from the parents, but it can also be the result of a random mutation of genes that are responsible for expressing keratin. The keratin is what binds the skin layers together with strength and structure.
  3. Lamellar Ichthyosis: Characterized by the thick scales that result from skin layers building on top of each other. Normally, the older skin cells (stratum corneum) protect the younger skin cells (kerathinocytes). The old cells shed and the new ones take their place. However, in the case of Lamellar Ichthyosis, the two layers don’t separate or shed and it results in a build-up of hard, scaly plates of skin. The condition is rare, but it is not uncommon for young children and babies to develop it.
  4. Cutaneou Porphyria: In this condition, an individual is unable to develop enzymes that create heme, which is a component of red blood cells that deliver oxygen. Heme is made up on porphyrins and they accumenulate when they are unable to convert into heme. The Skin becomes extremely photosensitive and the skin develops redness, painful irritation and blisters when exposed to sunlight for a short period. There are 8 different enzymes that can mutate and lead to this disorder.
  5. Mal de Maleda: This very rare type of genodermatoses is mainly found among those of Mediterranean descent and is a variation of Palmaris et plantari. It is characterized by the thickening of the skin on the palms of the hands and the soles of the feet, and usually turns into a yellowish hue.
About author - Dr. Cameron Rokhsar

Dr. Cameron Rokhsar

Dr. Cameron Rokhsar, MD, FAAD, FAACS, is the founder and medical director of the New York Cosmetic, Skin, & Laser Surgery Center. Dr. Rokhsar is a graduate of Harvard College and NYU School of Medicine. Dr. Rokhsar is double board certified in dermatology and micrographic dermatologic surgery, being one of the few select dermatologists in the country who is also fellowship trained in laser surgery. A researcher and innovator, Dr. Rokhsar is the creator of the non-surgical nose job and has been instrumental in the research and development of laser systems such as the Fraxel, CO2, Mirady, Vbeam, Themitight, and Ulthera devices. An Associate Professor of Dermatology at Mount Sinai Hospital in NYC, Dr. Rokhsar actively teaches the cosmetic dermatology clinic to the resident at Mount Sinai. An expert injector of fillers, and a trainer for many companies, patients fly in from around the world to see Dr. Rokhsar in his Garden City and Manhattan offices in New York.

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