|Year : 2000 | Volume
| Issue : 6 | Page : 310-311
Generalised Non Lethal Junctional Epidermolysis Bullosa
Vishaal Madan, Usha Gupta
Source of Support: None, Conflict of Interest: None
An 18-year olf boy presented with multiple bullae and atrophic depigmented lesions over the acral region. On examination he also had dystrophic and absent nails, discolored and dystrophic teeth and complaints of gradual decrease in hearing ability and dysphagia. No family history of similar lesions was present.
Keywords: Epidermolysis bullosa non lethal junctional
|How to cite this article:|
Madan V, Gupta U. Generalised Non Lethal Junctional Epidermolysis Bullosa. Indian J Dermatol Venereol Leprol 2000;66:310-1
|How to cite this URL:|
Madan V, Gupta U. Generalised Non Lethal Junctional Epidermolysis Bullosa. Indian J Dermatol Venereol Leprol [serial online] 2000 [cited 2020 Jun 5];66:310-1. Available from: http://www.ijdvl.com/text.asp?2000/66/6/310/4957
| Introduction|| |
Epidermolysis bullosa comprises of a group of genetically determined skin fragility disorders characterized by blistering of the skin and mucosa following mild mechanical trauma. Junctional epidermolysis bullosa is a term characterized by blistering wherein the basic pathology is in the lamina lucida., Junctional epidermolysis bullosa is conventionally divided into two main categories, Herlitz lethal) and non- Herlitz (non-lethal). The clinical course may be similar to the Herlitz form of junctional epidermolysis bullosa with generalised skin fragility and blistering but the patient usually survives to adulthood.,
| Case Report|| |
An 18-year-old boy was referred from the ENT Department where he was being investigated for obstruction in the passage of all kinds of food. He was having bullous eruptions over the acral areas with atrophic depigmented scars.
One month after his birth, the patient had started developing vesicular lesions over the body parts exposed to trauma. These gave way to bullous lesions which finally ruptured leaving depigmented atrophic scars. The teeth were discolored and dystrophic but they were normal till the temporary set of teeth were shed. At the age of 10 the nails were gradually shed and now no nails were present on the fingers or toes. In the past six years his hearing ability had decreased and since two years obstruction to all kinds of food had been a major cause of discomfort to the patient.
Routine investigations were carried out and found to be normal. Oesophagoscopy could not be performed, as the pharyngeal passage was narrow and bled profusely on passage of the oesophagoscope. X- Ray of the chest revealed no abnormality. Audiometry was suggestive of middle ear deafness, and histopathology confirmed the diagnosis of epidermolysis bullosa.
| Discussion|| |
Generalized non- lethal junctional epidermolysis bullosa (syn. epidermolysis bullosa atrophicans generalisata mitis, Generalised atrophic benign epidermolysis bullosa, GABEB.) has its course similar to the gravis/Herlitz from of the disease, though survival to adulthood is a major feature. Presence of blisters since infancy and atrophic scarring with dystrophic and absent nails, oesophageal dysphagia, and hypoacousis,, suggested the diagnosis. Though alopecia is considered a major sign of this disease, it was absent in this patient.
| References|| |
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