Newly Diagnosed?
You have just found out that you or a loved one have ichthyosis. You surely have many questions about it. FIRST is here to answer all of your questions. Below are some of the first questions that you may ask. FIRST also provides many booklets about the care and management of ichthyosis. If you are a new parent, FIRST offers a Caregivers Guide with information about how best to care for your newborn. The most important thing for you to remember is; you are not alone. FIRST has a network of knowledgeable volunteers available who are more than happy to talk to you about the everyday issues of life with ichthyosis. Please contact us to be connected to someone to talk to.
What is ichthyosis?
Ichthyosis is a family of genetic skin disorders characterized by dry, scaling skin that may be thickened or very thin. The prefix "ichthy" is taken from the Greek root for the word fish. Each year, more than 16,000 babies are born with some 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 patient throughout their lifetime.
Is there a cure for ichthyosis?
At present time there is no cure for ichthyosis, however dedicated researchers and physicians have and continue to develop effective ways to help manage the disorder. Parents are also playing an important role in sharing different treatments they are receiving with fellow parents of affected children and affected adults.
What are some of the problems associated with ichthyosis?
Besides the common scaling condition of the skin and depending on the severity, there may be associated psychological symptoms due to the abnormal appearance of the skin. Ichthyosis is disfiguring for most affected individuals. 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.
Why is skin important to us?
The skin is the primary deflector for the human body. It encases and protects our body from the external environment. The barrier that makes up the skin has many components, which include a barrier to excessive loss of body fluids or uptake of noxious chemicals in the skin. The skin is made up of many layers, but it is the outermost layer that provides the most protection and it is this layer where most ichthyosis patients have a defect.
What causes ichthyosis?
Most forms of ichthyosis are very rare. The genetic mutation that causes the disorder is passed from parent to child. In some cases however, neither parent exhibits the disorder themselves, but they are carriers of the defective gene. When two carriers pass their mutated gene on to a new life, the child will inherit the disorder. In some very rare cases, the genetic mutation occurs spontaneously in the affected generation.
What resources are available to help me?
FIRST offers a vast library of information available to guide you on your journey to understanding ichthyosis and its implications. Ranging from a basic overview to an in-depth look at how ichthyosis is passed genetically, information for caregivers and teachers, our library includes booklets, resource sheets, ichthyosis types information and our quarterly newsletter, Ichthyosis Focus. Our Regional Support Network is available to connect individuals with others in similar circumstances.
What can I do to help?
Please feel free to contact our office at 800.545.3286 or continue to navigate different sections on this website to find the information you need, or make a donation to help find a cure for ichthyosis.
What are the different types of ichthyosis and related skin disorders?
The following is a relatively complete list of the family-related ichthyosis diseases:
- Acquired ichthyosis
- Autosomal ichthyosis
- Chanarin-Dorfman syndrome (neutral lipid storage disease)
- CHILD syndrome (unilateral hemidysplasia)
- Chondrodysplasia punctata syndrome (Conradi-Hünermann syndrome)
- ARCI-congenital ichthyosis erythroderma (ARCI-CIE)
- Darier disease(keratosis follicularis)
- Epidermal nevus syndrome
- Epidermolytic ichthyosis (EI)(formerly EHK) (bullous congenital ichthyosiform erythroderma)
- Erythrokeratodermias (E. progressiva symmetrica, E. variabillis & E. heimalis)
- Giroux-Barbeau syndrome
- Harlequin ichthyosis (harlequin fetus)
- Hailey-Hailey disease (familial pemphigus)
- Ichthyosis en confetti
- Ichthyosis hystrix (Curth-Maklin type)
- Ichthyosis vulgaris
- Keratosis Follicularis Spinulosa Decalvans
- KID syndrome (keratitis-ichthyosis-deafness)
- ARCI-lamellar ichthyosis (ARCI-lamellar type)
- Multiple sulfatase deficiency
- Netherton syndrome (i. linearis circumflexa)
- Neutral lipid storage disease
- Palmoplantar keratoderma types (various)
- Peeling skin syndrome
- Pityriasis rubra pilaris
- Refsum disease
- Rud's syndrome
- Sjögren-Larsson syndrome
- Trichiothiodystrophy (Tay's syndrome, IBIDS syndrome)
- X-linked ichthyosis (steroid sulfatase deficiency)
