Epidermolysis bullosa

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). 

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. 

Woodley DT, Burgeson RE, Lunstrum G, Bruckner-Tuderman L, Reese MJ, Briggaman RA. Epidermolysis bullosa acquisita antigen is the globular carboxyl terminus of type VII procollagen. J Clin Invest 1988 81(3) 683-7. 

Horn HM, Tidman MJ, Aldridge RD. Allergic contact dermatitis due to doxepin cream in a patient with dystrophic epidermolysis bullosa. Contact Dermatitis 2001 45(2) 115. 

Epidermolysis bullosa acquisita occurred in a 73-year-old man after a course of vancomycin for 15 days (65). 

Delbaldo C, Chen M, Friedli A, Prins C, Desmeules J, 86. Saurat JH, Woodley DT, Borradori L. Drug-induced epidermolysis bullosa acquisita with antibodies to type VII collagen. J Am Acad Dermatol 2002 46(Suppl 5) SI6I-4. 

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