Epidermolysis

The daily dose of allopurinol is 300-600 mg. In combination with benzbromarone, the daily allopurinol dose is reduced to 100 mg. In general, allopurinol is well tolerated. The incidence of side effects is 2-3%. Exanthems, pruritus, gastrointestinal problems, and dty mouth have been observed. In rare cases, hair loss, fever, leukopenia, toxic epidermolysis (Lyell syndrome), and hqDatic dysfunction have been reported. Allopurinol inhibits the metabolic inactivation of the cytostatic dtugs azathioprine and 6-mercaptopurine. Accordingly, the administered doses of azathioprine and 6-mercaptopurine must be reduced if allopurinol is given simultaneously. 

Reported studies have shown its anti-inflammatory effects and anti-oxidant action. It acts by thinning the stratum corneum, promoting epidermolysis, dispersing basal layer melanin and epidermal and dermal hyaluronic acid and collagen gene expression that increases through an elevated secretion of IL-6 [3]. 

In epidermolysis bullosa, the skin breaks and blisters as a result of minor trauma. The dystrophic form is... 

A number of skin diseases, mainly characterized by blistering, have been found to be due to mutations in genes encoding various keratins. Three of these disorders are epidermolysis bullosa simplex, epidermolytic hyperkeratosis, and epidermolytic pahnoplantar kerato-derma. The blistering probably reflects a diminished capacity of various layers of the skin to resist mechanical stresses due to abnormalities in microfilament strucmre. 

Mutations of COL7A1 cause a skin disease called dystrophic epidermolysis bullosa. It is a blistering disease caused by the separation of the dermal-epidermal junction. Biochemical analysis revealed the single amino acid substitution in type Vll collagen that affects the supramolecular assembly of type VII... 

Unlabeled Uses Treatment of dystrophic epidermolysis bullosa... 

Epidermal growth factor (EGF) 544,571 Epidermis 439 Epidermolysis bullosa 440 Epimerases 692... 

Smith, T. A., Steinert, P. M., and Parry, D. A. D. (2004). Modeling effects of mutations in coiled-coil structures Case study using Epidermolysis Bullosa Simplex mutations in segment 1A of K5/K14 intermediate filaments. Proteins 55, 1043-1052. 

Gache, Y., Chavanas, S., Lacour, J. P., Wiche, G., Owaribe, K., Meneguzzi, G., and Ortonne, J. P. (1996). Defective expression of plectin/HDl in epidermolysis bullosa simplex with muscular dystrophy. /. Clin. Invest. 97, 2289-2298. 

Pulkkinen, L., Smith, F. J. D., Shimizu, H., Murata, S., Yaoita, H., Hachisuka, H., Nishikawa, T., McLean, W. H. I., and Uitto, J. (1996). Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. Hum. Molec. Gent. 5, 1539-1546. 

Kl. Kambham, N., Tanji, N., Seigle, R. L., Markowitz, G. S., Pulkkinen, L., Uitto, J., and D Agati, V. D., Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. Am. J. Kidney Dis. 36, 190-196 (2000). 

The disease epidermolysis bullosa involves severe skin ulceration and even loss of the ends of the ears, nose, and fingers. It is possibly the result of a primary defect in the stability of lysosomal membranes. 

FIGURE 41.2. Fluid-filled bullous of patient with epidermolysis bullosa caused by tnmcated gamma-2 polypeptide chain of laminin-332 (formerly laminin 5, a heterotrimeric glycoprotein). 

Pillay, E. (2008). Epidermolysis hullosa. Part 1 causes, presentation and complications. Br. J. Nurs. 17 292-6. 

Pulkkinen, L., Uitto, J. (1998). Hemidesmosomal variants of epidermolysis hullosa. Mutations in the alpha6heta4 integrin and the 180-kD hullous pemphigoid antigen/type XVII collagen genes. Exp. Dermatol. 7 46-64. 

Silicone dressings have also been used to manage wounds generated by radiotherapy, fingertip injuries, severe mycosis fungoides, and epidermolysis bullosa. 

Ward JC, Gitlin JB, Garry DJ, Jatoi A, Luikart SD, Zelickson BD, Dahl MV, Skubitz KM. Epidermolysis bullosa acquisita induced by GM-CSF a role for eosinophils in treatment-related toxicity. Br J Haematol 1992 81(1) 27-32. 

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