Caregivers' Guide: Section 1
What is Ichthyosis?
We had been told by a neonatologist that our baby would die of an infection and dehydration. Later, the dermatologist gave us an image to cling to in the first, horrible days. “Think of a caterpillar that breaks out of its cocoon and becomes a beautiful butterfly,” he said.
“Ichthyosis.” After hours, days, months, or even years of examinations, specialists, and testing, you finally have a diagnosis. It can be a relief to have a name, but you may feel strong emotions: Did I cause it? I shouldn’t have …… while I was pregnant. I should have known. These emotions are often compounded by confusion. Since all the ichthyoses are so rare, sometimes even the professionals will give you outdated or inaccurate information.
The characteristic thickened and scaling skin results from genetic defects in the body’s ability to make and maintain the outermost layer of the skin, the stratum corneum. These genetic errors result in one of two biological outcomes, depending on the type of ichthyosis. Either the body manufactures the stratum corneum too rapidly (up to 300% faster than normal), or the stratum corneum fails to shed (desquamate) properly from the surface of the skin. Because skin constantly renews itself, either of these two interruptions in the balance between the making of the skin and its shedding results in the main signs of ichthyosis: thickened, scaly, red skin. In one form of ichthyosis, Netherton syndrome, the stratum corneum is too thin, rather than too thick. Here the problem is one of too rapid shedding (desquamation).
Searching the medical literature or the Internet for information about ichthyosis can be useful. However, the medical literature is written for medical professionals and information offered in chat rooms may be inaccurate. When searching medical websites, keep in mind that the language may be very technical and the articles presume that you already know a great deal about skin biology and medicine. A good medical dictionary can help you learn the language so you can better understand ichthyosis and carry on meaningful discussions with medical professionals. Keeping a small notebook with all your questions and the answers from medical professionals can help you better understand what is happening to your child and enable you to ask intelligent questions when there is something you don’t understand.
Your doctors may be nearly as unfamiliar with ichthyosis as you are. Your high level of interest, knowledge, and commitment can foster the same in him or her. You may need to rely on yourself at times so the more you know and understand, the better choices you can make for your child.
THE ICHTHYOSES & RELATED SKIN TYPES
Autosomal dominant lamellar ichthyosis
Chanarin-Dorfman syndrome (neutral lipid storage disease)
CHILD syndrome (unilateral hemidysplasia)
Conradi-Hünermann Happle syndrome (X-linked chondrodysplasia punctata syndrome)
Congenital ichthyosiform erythroderma (CIE, nonbullous CIE)
Darier disease (keratosis follicularis)
Epidermal nevus syndrome
Epidermolytic ichthyosis (EI; bullous CIE)
Erythrokeratodermias (E. progressiva symmetrica, E. variabilis & E. heimalis)
Harlequin ichthyosis (harlequin fetus)
Hailey-Hailey disease (familial pemphigus)
Ichthyosis en confetti (ichthyosis with white spots)
Ichthyosis hystrix (Curth-Maklin type)
Keratosis follicularis spinulosa decalvans
KID syndrome (keratitis-ichthyosis-deafness)
ARCI-lamellar ichthyosis (recessive)
Multiple sulfatase deficiency
Netherton syndrome (ichthyosis linearis circumflexa)
Palmoplantar deratoderma (various types)
Peeling skin syndrome
Pityriasis Rubra Pilaris
Recessive X-linked ichthyosis (steroid sulfatase deficiency)
Refsum disease (phytanic acid storage type)
Trichothiodystrophy (Tay Syndrome; IBIDS syndrome)
This information is provided as a service to patients and parents of patients who have ichthyosis. It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents. Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors, nor Foundation staff and officials endorse any treatments or products reported here. All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.