Abstract
EBS is a rare genodermatosis usually inherited in an autosomal dominant fashion, although rare autosomal recessive cases have been reported. In severe generalised EBS, infants exhibit severe symptoms at the onset which tend to improve with time. We report an adolescent with severe generalised epidermolysis bullosa simplex (EBS), the most severe form of EBS, with severe iron deficiency anaemia
Highlights
Weakness in children may have various etiologiesEpidermolysis bullosa (EB) is a heterogeneous group of rare inherited connective tissue disorders characterised by marked fragility of epithelial tissues with prototypic blistering, erosions, and non-healing ulcers following minimal rubbing or frictional trauma.[1]
etiologiesEpidermolysis bullosa (EB) is classified into four major categories, each with many subtypes based on the precise location at which separation or blistering occurs, namely, epidermolysis bullosa simplex (EBS; intraepidermal skin separation), epidermolysis bullosa junctional [EBJ; skin separation in lamina lucida or central basement membrane zone (BMZ)], dystrophic epidermolysis bullosa or epidermolysis bullosa dystrophica (EBD; sublamina densa BMZ separation), and Kindler syndrome.[2]
We describe an adolescent with severe generalised EBS with severe iron deficiency anaemia
Summary
Epidermolysis bullosa (EB) is a heterogeneous group of rare inherited connective tissue disorders characterised by marked fragility of epithelial tissues with prototypic blistering, erosions, and non-healing ulcers following minimal rubbing or frictional trauma.[1]. Severe generalised EBS (formerly known as Dowling–Meara EBS) is the most severe form of EBS and presents with widespread friction-induced blistering at birth. Generalised intermediate EBS (formerly known as Koebner EBS) may present at birth with blistering and possibly with milder clinical courses.[6] Anaemia is common in children with EBS and is multifactorial. A 12 - year - old girl presented with cough and generalised weakness for 10 days She was apparently alright 10 days back when she started experiencing cough which was acute in onset, nonproductive in nature, not associated with breathlessness, fever and expectoration. Child had extensive skin lesions with blisters over the whole body noted soon after birth. Child goes to regular school with average scholastic performance On examination, she was conscious and oriented.
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