Whole-body peel (Erythroderma)

Non-bullous, Congenital Icthyosiform Erythroderma (CIE) is caused by an autosomal recessive hereditary deficiency of an enzyme involved in skin regeneration. The mutated or missing enzyme varies depending on which type of CIE the patient has, but it always leads to a build up of thick, dry skin. Either the patients are regenerating skin too fast or they are shedding epidermal cells too slowly. The transglutiminase-1 gene, the 12R-lipoxygenase gene, or the lipoxygenase-3 gene may be affected.

The patients appear red with partially adherent white scales. They are at high risk for infection because of the fissures they get in the thickened skin. Also, the thick skin can make it difficult to move joints, to the point where patients can end up in wheelchairs because their skin is just too tight and thick.

This is an incredibly difficult disease for kids and their families to deal with. It requires diligence to keep the kids well-moisturized and clean, but also the emotional effects of this disease are huge. Essentially, these kids are always peeling. Their beds and clothes are peppered with scaled off skin. There is also an odor to the hyperkeratotic skin. Patients are prone to overheating and alopecia (loss of hair).

Unfortunately there is no cure. Patients can only treat symptomatically by moisturizing and keeping their skin as supple and clean as possible.

There seems to be a lot of research done on prenatal testing for CIE. Skin samples can be taken of the fetus that are then analyzed for hyperkeratosis, particularly around hair follicles. Parents have even terminated pregnancies based on the positive diagnosis. The study below found that it is difficult to judge the presence or absence of the disease based on skin samples for two main reasons: 1. the random sample may be from an area that is less affected (as was the case in one of their patients) and 2. normal epidermal growth does not occur until the 24th week, at the end of the 2nd trimester

Holbrook KA, Dale BA, Williams ML, Perry TB, Hoff MS, Hamilton EF, Fisher C, Senikas V.The expression of congenital ichthyosiform erythroderma in second trimester fetuses of the same family: morphologic and biochemical studies.J Invest Dermatol. 1988 Dec;91(6):521-31.

OMIM has a nice summary of the disease.