Alexandra Cummings, DO
Resident - Pediatrics
Cohen Children's Medical Center/Northwell Health, United States
Disclosure information not submitted.
Sheila Shaigany, MD
Assistant Professor
Cohen Children's Medical Center/Northwell Health, United States
Disclosure information not submitted.
Sharon Dial, MD
Assistant Professor
Cohen Children's Medical Center/Northwell Health, United States
Disclosure information not submitted.
Lily Glater-Welt, MD, (she/her/hers)
Assistant Professor
Cohen Children's Medical Ctr of NY
New Hyde Park, NY
Disclosure information not submitted.
Linda Siegel, MD
Assistant Professor
Cohen Children's Medical Center/Northwell Health, United States
Disclosure information not submitted.
Matthew Taylor, MD
Pediatric Critical Care Attending Physician
Cohen Children's Medical Center
New Hyde Park, New York, United States
Disclosure information not submitted.
Title: Toxic Epidermal Necrolysis in a Neonate with Variant of Unknown Significance for Haile-Haile Disease
Case Report Body:
Introduction: Toxic epidermal necrolysis (TEN) is rare in neonates. Haile-Haile Disease (HHD) is a rare genetic disorder characterized by blistering and sloughing of the skin. Here we present the case of a full-term infant with rash and sepsis associated with Klebsiella oxytoca infection who subsequently developed septic shock, progressive TEN, secondary infection with Stenotrophomonas maltophilia, and pulmonary hemorrhage who was found to have a variant of unknown significance (VUS) for HHD.
Description: A 10-day-old full-term male presented with hypothermia, poor feeding, intraoral blistering, and a desquamating rash in the axilla. He had no known drug exposures. Skin culture grew Klebsiella oxytoca. Despite antibiotics, the patient progressed to circulatory failure with a brief cardiac arrest with resuscitation on hospital day (HD) 6. He developed refractory shock, renal failure, disseminated intravascular coagulation, and abdominal distention. He was transferred to a tertiary care hospital for surgical consultation due to rising lactate and abdominal pneumatosis. The rash progressed, covering 73% of the patient’s body surface area with 36% desquamation. Stenotrophomonas maltophilia was isolated from his skin. On HD 11 the patient had a pulmonary hemorrhage with cardiac arrest and expired. Skin biopsies, whole exome sequencing (WES), and autopsy were performed. WES revealed a VUS in the ATPC21 gene, which is associated with HHD. Stenotrophomonas maltophilia was found in the lungs post-mortem.
Discussion: TEN is a life-threatening blistering disorder that predisposes patients to secondary infection and organ injury. TEN is rare in infants; reported cases are triggered by medication or sepsis and are often fatal. HHD is a rare genetic disorder characterized by blistering and sloughing of the skin caused by an ATPC21 genetic mutation. Typical age of onset is 20 to 40 years with rare cases reported in infants. Blistering and sloughing can generalize with infection as occurred in this case. Clinicians must maintain a high index of suspicion for rare genetic mutations in critically ill neonates with severe sepsis or TEN. Rapid WES may aid in diagnosis and management of these patients.