Junctional Epidermolysis Bullosa In-utero with Pyloric Atresia and Aplasia Cutis Congenita (Carmi Syndrome): A Case Report
Year: 2025
Type: article
Study design: Case Report
Abstract: Carmi Syndrome (CS) is an extremely rare autosomal recessive genetic disorder characterised by the co-existence of Junctional Epidermolysis Bullosa (JEB), Pyloric Atresia (PA), and Aplasia Cutis Congenita (ACC). Globally, very few cases have been reported. CS is often fatal in neonates. Authors present the case of a two-day-old male preterm newborn who exhibited widespread absence of skin, especially over the lower limbs, associated with scarring skin lesions and extensive milia from birth. Other findings included bilateral microtia, nail dystrophy in the fingernails, absence of toenails, fusion of toes, corneal opacity, and a broad nasal root. Additionally, systemic involvement included PA and congenital joint contractures (arthrogryposis). The newborn was diagnosed with CS based on clinical characteristics and X-ray results. The condition was managed using a multidisciplinary approach. Unfortunately, the neonate succumbed to death on the fourth day of life due to sepsis.
Authors: Samuel Jeyaraj Daniel, Balaji Ganesh, S Saranya, K Desingh
Language: English
Subfield: Cell Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $275
OpenAlex ID: W4414033946