Extracutaneous Epithelial Involvement in Inherited Epidermolysis Bullosa

Abstract

Epithelia of all types are involved in the heritable forms of epidermolysis bullosa in a relatively nonselective fashion. The concept that the disease is restricted primarily to tissues lined by squamous epithelium is itself too restricted. This article considers the various types of epithelia with regard to their involvement in epidermolysis bullosa.

Dental and anaesthetic management of children with dystrophic epidermolysis bullosa

“…Having unaffected, consanguineous parents suggests an autosomal recessive inheritance form of dystrophic EB 11 , and this was confirmed by genetic testing. The oral findings are consistent with what has been described in this condition: blister formation, scarring, vestibular obliteration, microstomia, and extensive dental decay 6–9 . The comprehensive care of children with dystrophic EB can be difficult because of the severe limitations imposed by the condition.…”

“…Cutaneous findings vary and may include blistering, ulcerations, and contractile scars over large body surfaces, cicatricial alopecia, and dystrophic nails. Extracutaneous findings may include the eyes, oral mucosa, teeth, oesophagus (stricture), intestinal tract, genitourinary tract, and musculoskeletal system 6–8 . The lesions can become infected leading to dehydration, cellulitis, and septicaemia 9 .…”

Primary amenorrhoea due to a rare cause: epidermolysis bullosa causing haematometra

“…Genital involvement in EB is rare though perianal and vulvar scarring has been reported 3 4. To the best of our knowledge, this is the first reported case of junctional EB presenting with gynaecological involvement.…”

Respiratory tract involvement in a child with epidermolysis bullosa simplex with plectin deficiency: A case report

“…Although epidermolysis bullosa (EB) mainly affects the stratified squamous keratinizing epithelium of the skin, blisters can occur on virtually any mucosal surface [12], mostly in the oral cavity, pharynx and hypopharynx, and less frequently in the larynx, trachea and bronchi. Of gastrointestinal organs, esophageal mucosa is most commonly involved.…”