What is ichthyosis?

What is ichthyosis?

Ichthyosis is a family of rare genetic skin disorders characterized by dry, rough, red and scaling skin that may be thickened or very thin. Dermatologists estimate that there are more than twenty-five varieties of ichthyosis, with a wide range of severity and associated symptoms. Each year, more than 16,000 babies are born with some form of ichthyosis. Additionally, a recent study has determined that approximately 250 babies are born, each year, with a moderate to severe form of ichthyosis.

Ichthyosis affects people of all ages, races and gender. The disease usually presents at birth, or within the first year, and continues to affect the patients throughout their lifetime.

How is ichthyosis diagnosed?

Since ichthyosis is an inherited skin disorder, it is often recognized at birth and is currently classified on the basis of clinical appearance and inheritance pattern. The signs include red, scaling and extremely dry skin, and a possible collodion membrane encasement at birth. In most cases it is evident that there is something visibly wrong with the child’s skin and proper steps are then taken for diagnosis and treatment.

Each type of ichthyosis presents slightly differently. Sometimes, when a patient has ichthyosis, they have features that could fit within several different types as there are overlapping symptoms between the subtypes. Therefore a diagnostic test such as skin biopsies or blood tests will offer an unequivocal diagnosis.

Most common characteristics?

Aside from the common scaling condition of the skin, and depending on the severity, ichthyosis is disfiguring for most affected individuals. Some patients may experience ectropion, an abnormal eversion of eyelids, or as in the case of harlequin ichthyosis, one of the rarest forms of the mutation, the eyes and lips may be inverted, and there may be swelling in the hands and feet. Many ichthyosis patients also have skin that is red or has wide-spread patches of severe dryness. In addition to the numerous medical complications like dehydration, infections, chronic blistering, overheating, and rapid-calorie loss, patients with ichthyosis are subjected to psychological issues. Patients are often ostracized and concerns of isolation, low self-esteem, and depression are common due to the appearance of their visible, chronically shedding skin. Patients may also experience limitations in movement as thetightness of the skin may make it painful to move some parts of the body.Impaired eyesight or hearing is also a concern for patients. In ichthyosis, the skin can build up over the ears and impair hearing or the skin may tighten around the eyes, inhibiting an individual’s ability to close their eyelids, which can cause drying of the eyes and risk damage to the cornea.

Who should I consult if I suspect?

If an ichthyosis diagnosis is suspected, it is important to contact your family medical practitioner and/or dermatologist.  Additionally, the Foundation for Ichthyosis & Related Skin Types® (FIRST), the leading global patient advocacy group for ichthyosis, is the foremost resource for physician referrals, educational materials, and networking opportunities to meet other affected individuals. FIRST also offers a tele-medicine feature on their website at www.firstskinfoundation.org, whereby physicians can upload cases, questions, and photos, and within a 48-hour time period receive input from a team of ichthyosis medical specialists.

Treating or Treatments?

Currently there is no cure for ichthyosis. The primary goal in caring for ichthyosis is to hydrate (moisturize) the skin, to hold in natural or applied moisturizers, and to reduce scaliness so that the individual is physically and socially comfortable. Treatment plans vary from patient to patient, ranging from a variety of over-the-counter moisture products to prescription retinoid and creams, depending on the extent of symptoms, allergies, and personal preference.  Also, depending on the severity of the ichthyosis, physical or speech therapy may also be required.

An important aspect of the overall treatment, or general coping with ichthyosis, is to also inform the surrounding community. Teachers, neighbors, friends and family, should be made aware of the implications of the condition to watch for any signs of discomfort. This will help to safeguard both the physical and psychological health of the affected individual. Every effort must be made to ensure the environment is as safe and nurturing as possible.

What are the first steps to take?

If you suspect you have ichthyosis, contact your primary medical practitioner as a first step. They will direct you to a specialist, or they may contact FIRST, for a referral. If there is a history of ichthyosis in your family, and you are planning on starting a family of your own, you may want to consult with a genetic counselor to understand the hereditary pattern for the type of ichthyosis in your family. Keep in mind that ichthyosis is very rare, and the likelihood of having an affected child is small. However, knowledge ahead of time will ensure that your medical caregivers are informed and educated.

Once a diagnosis has been confirmed, it is important to schedule regular medical check-ups with your doctor to monitor symptoms, such as sight, hearing loss, or decrease in mobility. This will ensure that every possible step is taken to prevent and deter any further medical issues.

FIRST offers a vast library of information, with regard to understanding ichthyosis and its implications. Ranging from a basic overview to an in-depth look at how ichthyosis is passed on genetically, the FIRST library includes booklets, resource sheets, disease sheets, a monthly E-Newsletter, and quarterly newsletter, Ichthyosis Focus.  The FIRST Regional Support Network is also available to connect individuals with specialists and other individuals in similar circumstances. Information can be found at: www.firstskinfoundation.org.

Additional resources regarding ichthyosis and related skin types:

American Academy of Dermatology – https://www.aad.org/

American Society of Gene and Cell Therapy – https://asgct.org/

Camp Discovery – https://www.aad.org/public/public-health/camp-discovery

The Coalition of Skin Diseases – https://skincoalition.org/

Genetic Alliance – https://geneticalliance.org/

Global Genes – https://globalgenes.org/

Ichthyosis Information – https://www.firstskinfoundation.org/

International Groups – https://www.firstskinfoundation.org/content.cfm/category_id/753/page_id/712

NIH, National Institute of Arthritis and Musculoskeletal Skin Disease – https://www.niams.nih.gov/

NORD: National Organization of Rare Skin Disorders – http://www.rarediseases.org/

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