PMC6317128_01
Cutaneous involvement of the neonate. (a) Involvement of the left wrist and hand. (b) Absence of skin on the nasal bridge and neck. Microtia also notable. (c) Involvement of the right forearm and elbow. (d) Circumferential epidermolytic lesions on right ankle.
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On examination, the baby was noted to have bilateral microtia along with extensive truncal and appendicular epidermolytic lesions (Figure 1).
PMC6317128_02
Radiographic imaging consistent with pyloric atresia. (a) Abdominal X-ray showing gaseous distension of the stomach with no free intra-abdominal air. (b) Fluoroscopic abdominal X-ray showing total gastric outlet obstruction with no contrast entering the duodenum.
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High gastric output was noted without abdominal distension, and a combined chest and abdominal X-ray showed mild gaseous distension of the stomach with no free intra-abdominal air (Figure 2). An orogastric tube was placed to low intermittent suction, and an upper gastrointestinal tract fluoroscopic examination was performed revealing a complete discontinuity between the stomach and duodenum, consistent with pyloric atresia (Figure 2).
PMC6317128_03
Immunofluorescence staining. (a) Absence of alpha6 integrin staining compared to the control (b). (c) Absence of beta4 integrin staining compared to the control (d).
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Incomplete staining on laminin-332 (formerly laminin-5) was also noted (Figure 3).
PMC6317128_04
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