[Skip to Content]
[Skip to Content Landing]
Article
September 1987

Recessive Dystrophic Epidermolysis Bullosa

Author Affiliations

From the Department of Ophthalmology, University of Wisconsin, Madison.

Arch Ophthalmol. 1987;105(9):1248-1252. doi:10.1001/archopht.1987.01060090106038
Abstract

• Recessive epidermolysis bullosa dystrophica (REBD), a bullous disorder of the skin and mucous membranes, is frequently associated with ocular complications. A 40-year-old woman presented with lid ulcerations, chronic conjunctivitis, diffuse subepithelial corneal scarring, corneal ulceration, and cataracts. Management with intensive lubricant therapy, soft-bandage contact lenses, and cataract extraction successfully restored her sight. Histologic examination via light and electron microscopy revealed blister formation and scarring beneath the epithelial basement membrane of both the skin and cornea, confirming the diagnosis of REBD. The ultrastructure of the skin and cornea and the ocular complications of the major forms of epidermolysis are described herein. To our knowledge, successful ocular management of a confirmed case of REBD with complete ocular histopathologic features has not been documented.

References
1.
Moschella SL, Hurley SJ: Dermatology . Philadelphia, WB Saunders Co, 1985, pp 1200-1206.
2.
Briggaman RA:  Hereditary epidermolysis bullosa with special emphasis on newly recognized syndromes and complications . Dermatol Clin 1983;1:263-280.
3.
Briggaman RA, Wheeler CE Jr:  Epidermolysis bullosa dystrophica-recessive: A possible role of anchoring fibrils in the pathogenesis . J Invest Dermatol 1975;65:203-211.Article
4.
Eady RAJ, Tidman MJ:  Diagnosing epidermolysis bullosa . Br J Dermatol 1983;108:621-626.Article
5.
Gedde-Dahl T Jr: Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study . Baltimore, The Johns Hopkins University Press, 1971.
6.
Kojima K, Niwa Y, Inami E, et al:  Ocular symptoms of epidermolysis bullosa dystrophica . Acta Soc Ophthalmol Jpn 1953;57:163-165.
7.
Goldberg MF: Genetic and Metabolic Eye Disease . Boston, Little Brown & Co Inc, 1974, p 310.
8.
Hill JC, Rodrique D:  Cicatricial ectropion in epidermolysis bullosa and congenital ichthyosis: Its plastic repair . Can J Ophthalmol 1971;6:89.
9.
Aurora AL, Madhavan M, Sudha-Rao MB:  Ocular changes in epidermolysis bullosa letalis . Am J Ophthalmol 1975;79:464-470.
10.
Granek H, Baden HP:  Corneal involvement in epidermolysis bullosa simplex . Arch Ophthalmol 1980;98:469-472.Article
11.
Sorsby A, Fraser Roberts JA, Brain RT:  Essential shrinking of the conjunctiva in a hereditary affection allied to epidermolysis bullosa . Doc Ophthalmol 1951;5:118-150.Article
12.
Forgacs J, Franceschetti A:  Histologic aspect of corneal changes due to hereditary, metabolic and cutaneous affections . Am J Ophthalmol 1959;47:191-202.
13.
Cohen M, Sulzberger MB:  Essential shrinkage of the conjunctiva in a case of probable epidermolysis bullosa dystrophica . Arch Ophthalmol 1935;13:374-390.Article
14.
Friend J:  Physiology of the cornea: Metabolism and biochemistry , in Smolin G, Thoft R (eds): The Cornea . Boston, Little Brown & Co Inc, 1983, pp 17-31.
15.
Kenyon KR:  Morphology and pathologic responses of the cornea to disease , in Smolin G, Thoft R (eds): The Cornea . Boston, Little Brown & Co Inc, 1983, pp 43-75.
16.
Hashimoto K, Niizuma K: Skin Pathology by Light and Electron Microscopy . New York, Igaku-Shoin Medical Publishers, 1983, pp 145-152.
17.
Briggaman RA:  The epidermal-dermal junction and genetic disorders in this area , in Goldsmith LA (ed): Biochemistry and Physiology of the Skin . New York, Oxford University Press Inc, 1983, pp 1001-1024.
18.
Anton-Lamprecht I, Rauskolb R, Jovanovic V, et al:  Prenatal diagnosis of epidermolysis bullosa dystrophica (Hallopeau-Siemens) with electron microscopy of fetal skin . Lancet 1981;2:1077-1079.Article
19.
Pearson RW:  Studies on the pathogenesis of epidermolysis bullosa . J Invest Dermatol 1962;39:551-575.Article
20.
Pearson RW, Spargo B:  Electron microscope studies of dermal-epidermal separation in human skin . J Invest Dermatol 1961;36:213-224.
21.
Duke-Elder S: Systems in Ophthalmology . St Louis, CV Mosby Co, 1971, vol 8, pp 524-527.
22.
Bauer EA, Gedde-Dahl T, Eisen AZ:  The role of human skin collagenase in epidermolysis bullosa . J Invest Dermatol 1977;68:119-124.Article
23.
Bauer EA:  Recessive dystrophic epidermolysis bullosa: Evidence for an altered collagenase in fibroblast cultures . Proc Natl Acad Sci USA 1977;74:4646-4650.Article
24.
Eisen AZ:  Human skin collagenase: Relationship to the pathogenesis of epidermolysis bullosa dystrophica . J Invest Dermatol 1969;52:449-453.
25.
Valle KJ, Bauer EA:  Enhanced biosynthesis of collagenase in fibroblast cultures from recessive epidermolysis bullosa dystrophica . J Clin Invest 1980;66:176-187.Article
26.
Cooper TW, Bauer EA:  Therapeutic efficacy of phenytoin in recessive dystrophic epidermolysis . Arch Dermatol 1984;120:490-495.Article
27.
Takamori K, Naito K, Taneda A, et al:  Increased neutral protease and collagenase activity in recessive dystrophic epidermolysis bullosa . Br J Dermatol 1983;108:687-694.Article
28.
Eisenberg M, Stevens LH, Schofield PJ:  Epidermolysis bullosa: New therapeutic approaches . Australas J Dermatol 1978;19:1-8.Article
29.
Bauer EA, Cooper TW, Tucker DR, et al:  Phenytoin therapy of recessive dystrophic epidermolysis bullosa . N Engl J Med 1980;303:776-781.Article
30.
Berman MB:  Collagenase and corneal ulceration , in Wooley DE, Evanson JM (eds): Collagenase in Normal and Pathological Connective Tissues . New York, John Wiley & Sons Inc, 1980.
31.
Gordon JM, Bauer EA:  Collagenase in the human cornea: Immunological localization . Arch Ophthalmol 1980;98:341-345.Article
32.
Belin MW, Krachmer JH:  Chemical burns of the cornea , in Easty DL, Smolin G (eds): External Eye Disease . Stoneham, Mass, Butterworths, 1985, pp 188-309.
33.
McCulley JP:  Chemical Injuries , in Smolin G, Thoft R (eds): The Cornea . Boston, Little Brown & Co Inc, 1983, pp 422-431.
34.
Moy LS, Tan EM, Holness R, et al:  Phenytoin modulates connective tissue metabolism and cell proliferation in human skin fibroblast cultures . Arch Dermatol 1985;121:79-83.Article
×