Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020505 (hyperphagia)
 6,116 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited disorder of squamous epithelium that results in dystrophic scarring of the skin after minor trauma. RDEB is classified into two subtypes: Hallopeau-Siemens (HS) and non-Hallopeau-Siemens (nHS). Although severe scarring of the skin is the most common and obvious complication of the disease, esophageal scarring with formation of long strictures may also develop. Treatment options for esophageal stenosis in patients with RDEB include steroids, hyperalimentation, esophageal dilation and replacement. This report describes a child who was dilated immediately after diagnosis of severe esophageal stenosis subsequent to nHS-RDEB and managed successfully. Endoscopic esophageal balloon dilation under fluoroscopic control was very useful for detecting the region of stenosis and bougienage. The literature on such injuries is reviewed here, and the problems associated with the treatment of children with esophageal stenosis associated with RDEB are discussed.
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PMID:Effective esophageal balloon dilation for esophageal stenosis in recessive dystrophic epidermolysis bullosa. 1668 18