Carmi Syndrome

A 33-week preterm neonate born to a G2P1 mother having birth weight 1.24 kg was found to have blistering skin lesions over both lower limbs, abdomen, right side of the head, and left neck along with feeding intolerance and severe respiratory distress requiring mechanical ventilator support in the neonatal intensive care unit. Family history was positive for a similar condition on the father’s side.

Chest and abdominal radiographs showed a distended air-filled stomach with the absence of air in the duodenum and small bowel (single bubble sign), which remained unchanged even after a few days. No evidence of rib or vertebral anomalies was observed.

Based on imaging findings of single-bubble (pyloric atresia) and presence of skin lesions (aplasia cutis, epidermolysis bullosa), an initial diagnosis of Carmi syndrome was made, which was later confirmed by genetic testing.

Concomitant presence of pyloric atresia and epidermolysis bullosa is referred to as Carmi syndrome and both these conditions have autosomal recessive inheritance patterns [1]. Clinically, neonates present with areas of widespread blistering and congenital absence of skin (aplasia cutis congenita) along with feeding intolerance, vomiting, and abdominal distension [2]. Carmi described 2 cases of aplasia cutis congenita in 1982 one of which has pyloric atresia [3]. The condition has very high mortality and poor outcomes due to sepsis and renal failure. Dank et al. reported an average survival time of 70 days in patients of Carmi syndrome who underwent surgical correction attributed to imminent sepsis [4]. For this reason, some studies suggested withholding PA surgical correction to avoid unwarranted surgery-related sufferings [5].

In our case, diagnosis of Carmi syndrome was suspected on basis of skin findings (aplasia cutis congenita) and concomitant pyloric atresia suggested by the presence of a single bubble sign with absent distal air on the combined chest and abdominal radiograph. The genetic study confirmed the diagnosis of Carmi syndrome. In our patient surgical correction was with-held due to the critical condition of the baby and the parent’s preference for conservative management. The patient remained on ventilatory support due to respiratory distress. His renal functions deteriorated over time and he succumbed to aggressive disease eventually passed away on the 17^th day of birth.

In conclusion, Carmi syndrome has a relentless and fatal course whether surgical correction for pyloric atresia performed or not, due to repeated skin infections and renal failure. The disease has a poor prognosis due to prematurity, extensive skin loss associated fluid and electrolyte imbalance, malnutrition, respiratory morbidities, significant renal disease, and sepsis.

Informed written consent for the patient’s parents has been taken for publication.