July 2011       




Recessive dystrophic


Presented July 19, 2011


Those unfortunate people who have the inherited condition Recessive dystrophic Epidermolysis Bullosa are born with a mutation which blocks their ability to form collagen VII, the fine fibres which hold the skin layers together. They form blisters after trivial trauma. These lead to ulceration and infections, and give rise to a prolific repair tissue which envelops the fingers, leaving the hands like paddles (McGrath & Mellerio 2011). Their suffering does not stop at that point - they have an unusually high risk of developing skin cancers (squamous cell cancers; SCC) at a young age, and these tend to be more highly aggressive than those in people without the skin condition.

Recent work was suggested that the reason why these people have the development of the SCCs with aggressive tendencies early in life, may be because there is a constitutive production of the cell stimulant chemical (cytokine) Heparin-binding Epidermal Growth Factor-like (HB-EGF-like; Kivisaari 2010). Interest here comes from the nature of this cytokine - it binds to heparan, the complex sulphated sugar chains that are attached to the outside of cells and which act as co-receptors in the transmission of the chemical message into the cell.

Elsewhere on this website, there are dissertations on the possible effects of Lithium upon the structure &/or quantity of the heparan produced by the enzymes in the Golgi apparatus of the cells. Lithium inhibited the enzyme that has been abbreviated gPAPP and, in so doing, changed the quality &/or quantity of both chondroitin sulphate and heparan sulphate (Frederick 2008).

Elsewhere on this website, there are presented reasons to believe that an intermittent, bolus dosage regime for lithium in humans may modify the courses of a number of conditions, ranging from rheumatoid arthritis, multiple sclerosis and cancer ( http://www.malsmusings.info/index_files/TREATMENT.htm ). The suggestion here is that Lithium, in a similar regimen may offer some benefit for those with this hereditary condition. There may be 4 indications to consider :

1) Administered to those where the SCC has spread, and the condition is incurable by normal therapeutic measures, with the aim to slow the growth of the cancer,

2) Administration at or about the time of surgical intervention (adjuvant therapy) where the aim is to try to lessen the likelihood of local or distant spread associated with the surgery,

3) Administration for an indefinite time, starting about the age of 20 years, in the hope that SCCs may be less numerous&/or grow more slowly &/or less likely to spread more widely,

4) Administration for an indefinite time starting during infancy, to try to prevent the prolific and disfiguring skin repair. To date there may be no evidence that HB-EGF-like (or similar) is produced in excessive amounts in such tissue - the possibility that this suggestion might help is speculative.

Each step down the above list will require greater thought and consideration; the indefinite treatment durations would require careful monitoring of the serum lithium levels and renal function.

Given the degree of disability and the life-threatening nature of the condition, there would seem good grounds for considering this cheap treatment - which may offer some help, when there is little else to offer the sufferers.


Copyright (C) MA Traill July 2011


Frederick JP, Tsahai Tafari A et al. Proc Natl Acad Sci USA. 2008; 105(33):11605-12

Kivisaari AK, Kallajoki M et al. Brit J Dermatol 2010; 163:726-35

McGrath JA & Mellerio JE. J Med Archives. 2011; 24(1):74-88 (www.journalarchives.org)