The Implications of Ichthyosis

Because most of the ichthyoses are uncommon to rare, it is not atypical for someone with one of these conditions to go through his/her entire life never meeting another with the same disorder.  The public is also usually not familiar with these conditions.  This can result in curiosity and, at times, in unpleasant behaviors such as staring, rude questioning [7] or the giving of unsolicited advice.  Ichthyosis can be a disfiguring disorder and as such has numerous social and psychological repercussions. Children are especially vulnerable to its social and psychological side effects.  Even if they are spared blatant ridicule they may find themselves ostracized, ignored and isolated.   In addition, the attentions of over-protective parents and other adults can also impair their development.   Adolescence is a time of self-consciousness, self-doubt and exaggerated concern with appearance and physical attractiveness for even the healthiest and best-looking youngsters. It can be an especially painful experience for teenagers with ichthyosis.  Yet despite these problems to confront, most people with ichthyosis go on to lead full, rich and productive lives. [8]  Adjusting to having a child with ichthyosis is challenging for families.  Words are inadequate to express the shock new parents may feel when first confronted by the unusual and sometimes even frightening appearance of their newborn’s skin. [9]  Delivery room and nursery personnel often have little to no experience with these rare disorders and their lack of expertise contributes to parental dismay.  Later on, parents may feel guilty, blaming themselves for their child’s condition.  Siblings may be resentful of the time given to the “sick” child, or may be thrust into an over-protective role when others taunt their brother or sister; they may even feel guilty about their own healthy skin.  Children and adults with ichthyosis and their family members benefit greatly from meeting and talking with other people who share their situations.  FIRST offers opportunities for these interactions; through its newsletter, website and other publications, peer counseling activities, its biennial family conferences, and regional conferences.
Ichthyotic skin is often dry, tight and inelastic. This rigidity may produce discomfort through formation of painful cracks in the skin and open areas.  Extreme thickening of the skin on the soles of the feet can make walking difficult for many patients, and cracks and fissures on the fingers can make even simple tasks difficult or painful. Tight skin can interfere with joint mobility, and over time, lead to decreased joint mobility.  In some types of ichthyosis (e.g., EI) the skin is very fragile and will rub off from even a slight abrasion. Cracks and abrasions then leave the skin open to infections.  Indeed, recurrent skin infections are a problem for many patients with ichthyosis. 

Thick scales can obstruct the outflow of sweat ducts.  This inability to sweat can make some patients with ichthyosis quite vulnerable to overheating in a hot environment or following vigorous exercise. Severe scaling on the scalp may also interfere with hair growth.  Patients with some forms of ichthyosis (e.g., ARCI-LI/CIE, harlequin ichthyosis) may be unable to close their eyes completely (ectropion) because of the tightness of the skin around the eyes and eyelids and may seem to "sleep with their eyes open." For this reason, opthalmologic care is an important part of treating icthyosis for some patients.

As discussed above, the abnormal stratum corneum in ichthyosis results in an impaired permeability barrier with increased water loss from the skin surface. [10]  As water evaporates, it carries along with it energy loss as heat of evaporation.  Infants and children with severe forms of ichthyosis may loose sufficient energy (calories) in this manner to inhibit growth.  The demands of a hypermetabolic epidermis may add to this caloric deficiency.  Provision of sufficient calories in the diet to support growth as well as extra fluid to replace skin losses can be difficult.  In some cases, special measures, such as tube feedings, may be required.

[7] For example, people with ichthyosis are frequently asked if it is contagious.  Because these are genetic conditions and are not due to infection with bacteria, viruses, or other microorganisms, the answer is, of course, “No”. 

[8] The Foundation offers many types of support to individuals and families dealing with ichthyosis, informational brochures, peer counseling, access to expert advice, etc.  For more information on psychosocial adjustment in children, the Foundation has a video (VHS) “Butterflies: The Children of Ichthyosis” and a brochure  “Ichthyosis: A Guide for Teachers”.  It also offers a DVD “Living with Ichthyosis;  A Teenage Perspective.

[9] Although these are genetic disorders, in many if not most instances there are no other known affected family members; and the appearance of ichthyosis in the family comes as a shocking surprise.

[10] This type of water loss (transepidermal water loss) is different from sweating, which is a secretion of water to the skin surface by sweat glands as part of regulation of body temperature (thermoregulation).  Transepidermal water loss is the loss of body water by diffusion.  Its rate is dependent upon external humidity and the competency of the permeability barrier to obstruct water movement.

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.

Request a Printed Copy Overview Booklet

BACK To Complete Information Page

Share This Page: