Background: Epidermolysis Bullosa (EB) stands as the prototype category of disorders featuring subepidermal fragility, characterized by skin blistering induced by minimal trauma. The gastrointestinal tract is a common site of extracutaneous injury. Esophageal stricture (ES) is one of the severe complications, with nearly 70% of patients experiencing ES within the initial 25 years of life.
View Article and Find Full Text PDFAutoimmune enteropathy is a rare cause of chronic intractable diarrhea and is present in <1 in 100,000 infants. We report the case of a 9-month-old boy who presented with intractable diarrhea and vomiting. Genetic panel testing revealed a STAT3 heterozygous mutation in exon 6, suggesting infantile-onset multisystem autoimmune disease-1.
View Article and Find Full Text PDFGut inflammation and defect in the gut mucosal barrier appear to have a correlation with skin diseases and vice versa. The coexistence of hereditary ichthyosis with active colitis has never been reported. We present a 17-year-old female with ichthyosis since birth, abdomen pain for 3 months, with acute colitis.
View Article and Find Full Text PDFTrichobezoar, a rare condition of intragastric hair accumulation is commonly associated with an underlying psychological condition. Removal of the bezoar either endoscopically or surgically (laparoscopy or laparotomy) with concurrent psychiatric assessment and treatment is the mode of treatment. We present a 10-year-old child with recurrent trichobezoar, who was managed surgically the first time, and subsequently endoscopic removal was done on recurrence of bezoar after 3 months.
View Article and Find Full Text PDFPlummer-Vinson syndrome (PVS), also called Patterson-Kelly-Brown syndrome, is a rare cause of dysphagia in children. This syndrome is associated with single or multiple webs in the upper esophagus with frequent iron deficiency. PVS usually occurs in adults, particularly in Caucasian middle-aged women, in the fourth to seventh decade of life, and is rare in childhood.
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