|Year : 1995 | Volume
| Issue : 3 | Page : 170-172
Phenytoin therapy in recessive dystrophic epidermolysis bullosa
V L Rege
A case of recessive dystrophic epidermolysis bullosa in a 17-year-old boy is described. The diagnosis was based on clinical and histophathological findings. The patient is being treated with 200-300 mg of phenytoin sodium per day maintaining a blood level of 13-15 mg/litre and is under remission for 1 year.
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Rege V L. Phenytoin therapy in recessive dystrophic epidermolysis bullosa.Indian J Dermatol Venereol Leprol 1995;61:170-172
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Rege V L. Phenytoin therapy in recessive dystrophic epidermolysis bullosa. Indian J Dermatol Venereol Leprol [serial online] 1995 [cited 2014 Apr 20 ];61:170-172
Available from: http://www.ijdvl.com/text.asp?1995/61/3/170/4193
Epidermolysis bullosa is a genetically determined disorder which presents as simple, junctional or dystrophic type depending on the level of bulla formation in the skin. The recessive dystrophic epidermolysis bullosa appears at birth, on the skin and mucous membranes as bullae at the site of trauma or spontaneously, healing with scarring and deformities. Other structures like nails, teeth, hair and eyes may be affected. Anaemia and growth retardation are associated with the disease., There is no proved treatment for epidermolysis bullosa. However various drugs like costeroids, phenytoin, vitamin E etc have been used with variable results.
The present study reports a case of recessive generalized dystrophic epidermolysis bullosa controlled with phenytoin.
A 17-year-old male presented with skin and mucous membrane lesions appearing spontaneously or at sites of trauma from infancy. To begin with only vesiculobullous lesions were noted at the age of 1 month which used to heal without scarring. With advancing age the lesions were ulcerating showing hypertrophic granulation tissue healing with hypo/hyperpigmented atrophic/hypertrophic scars [Figure:l]. By adolescence he developed permanent loss of nails, diffuse alopecia, teeth abnormalities, stunted growth and contractures. No history of similar illness in the family could be elicited in 3 generations.
Investigations revealed a haemoglobin of 5 gm% and ESR of 60 mm/hour. Total and differential leucocyte counts, liver function tests and chest X-ray were within normal limits. A barium meal did not show any abnormality of the alimentary tract. An X-ray of both jaws revealed hypoplastic teeth. Biopsy section stained with H & E and reticulum stain showed a subepidermal bulla with intact basement membrane forming the roof of the bulla. The bulla was filled with amorphous pinkish material and inflammatory cells, mainly eosinophils and lymphocytes. The dermis beneath the bulla was markedly oedematous with perivascular chronic inflammatory infiltrate. Electron microscopic and immunofluorescence studies could not be carried out for want of facilties.
Based on the clinical and histopathological features a diagnosis of recessive generalised dystrophic epidermolysis bullosa was made. The patient was given phenytoin sodium in a dosage of 10 mg/kg per day. With this a blood level of 13-15 mg/litre could be achieved in 3 weeks time. There was marked improvement in the condition of the patient by 6 weeks as suggested by the decrease in size, frequency and number of the lesions. By 3 months the 'patient was free of blisters [Figure:2]. Patient is maintained under remission at a dosage of 200-300 mg/day for last one year. Blood levels were regularly monitored. No side effects were noted in the follow up period.
In our patient phenytoin sodium used in the dosage of 200-300 mg/day to maintain a blood level of 13-15 mg/litre has given excellent results and the patient is in remission for the last 1 year. This dosage was maintained as per the observations of earlier workers.,
Cooper et at have treated 22 patients with phenytoin sodium and had encouraging results. Bauer et al have also noted significant decrease in blister formation in their 17 patients. However their results were heterogenous. Similarly junctional epidermolysis bullosa (JEB) has been treated with phenytoin with good results at blood levels of 13-15 mg/litre.
The pathogenesis of RDEB is thought to be due to increased collagenase activity by the fibroblasts. Phenytoin sodium has been demonstrated to inhibit collagenase activity in vitro, thus helping to control the formation of bullae. However blood levels higher than 8 mg/litre are required.,
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