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The index case, a resident of Chandigarh, presented at 2 years age with history of blistering skin lesions from day 2 of life. The blisters contained clear or blood-tinged fluid, 7–10 lesions developed every week, and these ruptured spontaneously, and did not involve cheeks, chin, soles or genitalia. Healing resulted in scarring and depigmentation. There was also dysphagia to solids, delayed developmental milestones and breath-holding spells. Her weight was 7.8 kg (<3rd centile) and height was 79 cm (<5th centile). She had moderate pallor, crusts/scabs and scars all over her body, pectus carinatum, camptodactyly of right middle and ring fingers with absent nails in all fingers (lost). Bullous lesions were present over buccal mucosa and tongue and teeth showed enamel defects. She required one blood transfusion at 3 years age. There was marked failure to thrive, alopecia and progressive deformities of hands and legs. At 7 year age, her weight was 12 kg (<3rd centile), height was 100 cm (<3rd centile) and head circumference was just 49 cm. A skin biopsy done confirmed the diagnosis. At 11 years of age, failure to thrive and alopecia were there, but the face was apparently spared (fig 1) and hands showed acquired syndactyly (fig 2).
There are several forms of epidermolysis bullosa, a rare inherited skin disorder of which the dystrophic form is the destructive form of epidermolysis bullosa, which may present at birth or appear in infancy. Hands, feet, elbows and knees are sites of predilection for bullae formation, and mucosal surfaces are also usually involved.
Different mutations in the type VII collagen gene can cause either recessive or dominant epidermolysis bullosa.1 Dysphagia, lingual adhesions, microstomia and severe mutilation are described in dystrophic form, more in the autosomal recessive cases. The most common oral manifestations of epidermolysis bullosa are painful blisters affecting all the oral surfaces.2 Dysphagia may require oesophageal dilatation. Recent progress in molecular therapies has indicated that cell-based approaches may potentially offer amelioration – and perhaps even cure – for afflicted individuals.3 Surgical release of fingers in pseudosyndactyly, without skin grafting, analgesics and proper skin care allows spontaneous epithelisation.
We thank the family for consent to publish the photographs.
Competing interests: none.
Patient consent: Patient/guardian consent was obtained for publication.
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