Carmi Syndrome in a Preterm Neonate: A Multidisciplinary Approach and Ethical Challenge

Abstract

Epidermolysis bullosa (EB) is characterized by blistering of the skin and mucosal erosions caused by hemidesmosomal abnormalities. EB is divided into 3 major subgroups depending on the particular location of tissue separation: EB simplex, dystrophic EB, and junctional EB. Junctional EB (JEB) can further be broken down into Herlitz, non-Herlitz, and JEB with pyloric atresia (Carmi syndrome) depending on genetic and histologic testing. When extensive, management of a patient with EB can be challenging due to not only cutaneous but also extracutaneous manifestations as well. Families and health care teams are often faced with difficult decisions in their infant's best interest. We report a case of a preterm neonate with Carmi syndrome and unique findings on immunofluorescence studies. The patient's course was complicated by multisystem involvement and ultimately death. A multidisciplinary approach was crucial in the light of diagnostic, therapeutic, and ethical challenges.

Carmi Syndrome in a Neonate: An Exacting Surgical Challenge

“…While there are no definite treatment options, the management of EB focuses predominantly on the minimization of new blister formation via appropriate dressings and infection control through the use of antibiotics and antiseptics. In addition, fluid and electrolyte replenishment, along with appropriate nutritional supplementation, remains pivotal in the management of these patients [5].…”

“…Clinically, neonates present with widespread areas of blistering and the congenital localized absence of skin (aplasia cutis congenita), as well as abdominal distention and recurrent vomiting [10]. The diagnosis of Carmi syndrome should be considered in every neonate with PA regardless of the degree of skin blistering [5]. The literature has documented a very high mortality rate and poor outcomes that can mainly be attributed to the resultant sepsis.…”

“…Carmi syndrome is characterized by skin fragility and blistering with minimal, or even no, trauma, along with an obstruction of the pylorus. Notably, this rare syndrome demonstrates a predilection for affecting neonates [5]. The disease carries a high mortality rate owing to its systemic manifestations such as electrolyte imbalances and septicemia.…”

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

“…4 The incidences of EB and PA have been quoted as 19.6 per 1,000,000 live births 5 and 1 of 100,000 live births 6 respectively. The exact prevalence of the coexistence of PA-EB is unknown, but speculated to be 7 <1:1,000,000, and the carrier frequency has been estimated at less than 1/5000 live births. 8 About 100 cases have been documented worldwide to date.…”

Ethics Roundtable: How Much is Too Much?

“…Shortly after admission, there were concerns for pyloric atresia (PA), which in combination with the cutaneous findings was suggestive of Carmi syndrome, conferring a very poor prognosis. 1,2 She was not a surgical candidate for repair of the PA given her skin condition and prematurity, thus requiring a central venous line (CVL) for parenteral nutrition and medications. Pain control was also a significant challenge.…”