We report a year-old female with generalized, severe, recessive dystrophic epidermolysis bullosa who developed secondary chronic anal fissures. This resulted in anal sphincter spasm and severe, disabling pain. She was treated with five botulinum toxin A injections into the internal anal sphincter over a period of 2 years and gained marked improvement in her symptoms. This case demonstrates the successful use of botulinum toxin A injections to relieve anal sphincter spasm and fissuring, with long-term improvement. Epidermolysis bullosa EB consists of a heterogeneous group of rare autosomal dominant or recessive disorders, characterized by epithelial fragility. Patients with recessive dystrophic epidermolysis bullosa RDEB often develop chronic constipation caused by painful defecation from blistering and tearing due to skin fragility, as well as by poor motility from opioid analgesia, which is frequently used in those with severe EB.
Anal fissure, anal spasm and anal stenosis
Anal fissure, anal spasm and anal stenosis | SpringerLink
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What's to know about proctalgia fugax?
Anal fissure is one of the most common lesions to consider in the differential diagnosis of anal pain. This is an ulcer in the squamous epithelium of the anus located just distal to the mucocutaneous junction and usually in the posterior midline. It typically causes episodic pain that occurs during defecation and for one to two hours afterwards.