June 13th is International Albinism Day, designated to help raise awareness and educate the public about albinism group disorders. As a chronic health condition affecting the skin and other body systems, albinism is far more than just an absence of skin pigmentation. Understanding how albinism affects your overall health and proactive steps you can take to protect it is imperative to your continued wellness.
Here’s what you need to know and how your local medical dermatologist can help.
What is Albinism?
Albinism is a family of genetic disorders affecting the gene responsible for melanin production. Typically albinism falls into one of two primary categories: Oculocutaneous Albinism (OCA) or Ocular Albinism (OA.)
Oculocutaneous Albinism is the most common form of albinism and includes seven subtypes based on the specific gene affected by the disorder. People with OCA produce little to no melanin, causing the characteristic pale skin, eyes, and hair often associated with albinism. This missing melanin can also affect vision and light sensitivity, causing everything from minor visual impairment to full blindness. Likewise, albinism can also present with strabismus (crossed eyes) or nystagmus (rapid eye movements.)
Hermansky-Pudlak Syndrome (HPS) is a form of OCA that also includes blood disorders as well as lung, kidney, or bowel diseases. People with HPS are prone to bruising and bleeding including gum and nose bleeds. They may bleed excessively from injuries, menstruation, or surgery. This is caused by an additional dysfunction of the blood platelets responsible for clotting, which can be life-threatening in some cases. HPS can also lead to pulmonary fibrosis, a disease affecting the lungs that can significantly shorten life expectancy.
Chediak-Higashi Syndrome is another form of OCA typically detected during infancy. In addition to the symptoms associated with OCA, children with Chediak-Hagashi Syndrome have impaired immune systems. They experience frequent illness, especially viral, bacterial, or fungal skin and respiratory infections. During adulthood, people with this disorder may develop neurological issues affecting their posture and gait and lack of sensation in the arms and legs. In some cases these symptoms can resemble Parkinson’s Disease.
Ocular Albinism is a less common form of albinism and may be less noticeable than OCA because it only affects the eyes. People with OA may have light blue eyes or eyes that appear pink or red due to a lack of melanin. Strabismus and nystagmus are also typically present.
Unlike with Oculocutaneous Albinism, people with OA typically have ‘normal’ skin tones and hair colors.
One in 18,000 people in the United States are affected by some form of albinism, yet it remains largely misunderstood by the general public. This lack of education about albinism group disorders can lead to discrimination, bullying, social isolation, and other problems for those living with albinism. Educating yourself and others on the realities of this genetic disorder can go a long way in addressing these issues.
Albinism, Sun Damage, and Skin Health
Your skin is your body’s largest organ, serving as its first line of defense against illness, injury, and elemental damage. It’s also the largest producer of melanin where it serves its primary function: protection against UV rays and sun damage. While no amount of melanin makes you immune to the effects of the sun, having little to no melanin can leave you vulnerable to serious skin issues– including skin cancer.
Because the skin does not have the natural protective qualities provided by melanin, people with albinism must be precautious in avoiding and preventing sun damage. This includes wearing protective clothing and hats when outside for long periods, using sunscreen and products with SPF 20 or higher, and avoiding getting sun burns.
It’s important to remember that cloudy skies don’t necessarily mean no UV exposure. UVA rays can penetrate clouds, tinted windows, and even extend beneath the surface of water. In general, applying some form of sunscreen should be a part of your daily routine regardless of the weather forecast. This is especially true in South Florida where the weather can vary from hour to hour and minute to minute.
Dermatology Services for Albinism
While everyone should make routine visits to the dermatologists and yearly skin exams a part of their health regimen, those with certain pre-existing conditions need to be especially vigilant. Older adults, people with a personal or family history of skin cancer, and people with light complexions are all more predisposed to developing skin cancer. Thankfully, when detected early, most forms of skin cancer have incredibly high survival rates– up to 99 percent.
People with albinism should get a skin exam by a certified dermatologist every six to 12 months. Additionally, monthly self-exams to document any new or changing moles, birthmarks, or other potential signs of a problem can aid in early detection efforts.
As a leading provider of comprehensive medical dermatology services, Dania Dermatology is dedicated to helping improve and preserve the health of all skin. Our extensive knowledge and experience includes treating patients with varying health conditions affecting the skin, including albinism. Our expert team of providers are highly trained in skin cancer detection and treatment, including Mohs surgery for removing melanomas, basal cell carcinomas (BCCs), and squamous cell carcinomas.