(New) antenatal ultrasound signs of fetal junctional epidermolysis bullosa: A case report and systematic review of literature

Tosto, Valentina; Herrero, Beatriz; Illescas, Tamara; De la Calle Fernandez-Miranda, Maria; Moreno-Sanz, Barbara; de Lucas, Raul; Bartha, Josè Luis; Antolin, Eugenia

doi:10.1016/j.ejogrb.2023.08.379

Cited by 1 publication

(1 citation statement)

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“…④.In consideration of eugenics and given the high challenge in the treatment of Carmi Syndrome, termination of pregnancy might be contemplated if prenatal diagnosis reveals indicators such as polyhydramnios, gastric enlargement, the "snowflake sign", abnormal external ears, signs of skin desquamation, lower limb anomalies, chorioamniotic membrane separation, and a notable perioral hypoecogenicity identified through ultrasonography. 20,21 International Medical Case Reports Journal 2024:17…”

Section: Dovepressmentioning

confidence: 99%

Lessons to Learn About the Misdiagnosis of a Rare Case in China: Bart Syndrome or Carmi Syndrome?

Wei,

Zhang,

Mei

et al. 2024

IMCRJ

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Objective We report a case of Carmi Syndrome in a neonate. Aim To share our lessons in diagnosis of the case of Carmi Syndrome. Case Report Carmi Syndrome is an extremely rare autosomal recessive genetic disorder characterized the coexistence of pyloric atresia and junctional epidermolysis bullosa, and with aplasia cutis congenita in approximately 28% patients. In this case, a full-term male neonate was born to a G 4 P 2 +1 L 1 multipara through cesarean section delivery in hospital in a non-consanguineous marriage with 4000mL of II°meconium-stained amniotic fluid. He was found extensive skin loss over lower legs and other parts, with scattered blisters and bilateral microtia. Plain abdominal X-ray revealed a large gastric air bubble with no gas distally. The mother had an intrauterine fetal loss previously for reasons unknown. The dermatologist diagnosed the newborn with Bart Syndrome, while the pediatric surgeon diagnosed congenital pyloric atresia(CPA). The parents refused further treatment and the neonate passed away about 30 hours after birth. Outcome The neonate passed away about 30 hours after birth. Conclusion Lessons from this case:①.Rule out Carmi Syndrome in patients with PA, and differentiate Bart syndrome and Carmi Syndrome in patients with abnormal skin manifestations. ②. For rare and/or severe diseases, multidisciplinary teams(MDTs) should be establish. ③. Genetic counseling and prenatal diagnosis are necessary prior to subsequent childbearings. ④.Termination of pregnancy might be contemplated if certain indicators are revealed.

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Section: Dovepressmentioning

confidence: 99%