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Presentation

A Case of Neonatal Erythroderma with Mutations in MALT1 and ABCA12

Description

In this case presented by Jason Meyer from Vanderbilt, a four-month-old girl was admitted for erythroderma and failure to thrive. Initially healthy, she developed a generalized rash and required hospitalization for dehydration and associated nasogastric tube feeding. The workup revealed leukocytosis with minor lymphocyte alterations, leading to a presumed diagnosis of congenital ichthyosis; she was treated accordingly. Subsequently, genetic testing identified biallelic mutations in the MALT1 gene and ABCA12 gene, with one MALT1 mutation being pathogenic. MALT1 deficiency is an autosomal recessive immunodeficiency syndrome marked by severe infections and skin issues, while ABCA12 is linked to skin barrier formation and ichthyosis. Despite the absence of recurrent infections, the patient was suspected to have MALT1 deficiency due to her condition. Electron microscopy of her skin showed intact lamellar bodies, suggesting ABCA12 function was normal, and reinforcing the diagnosis of MALT1 deficiency. Unfortunately, the patient experienced further severe infections during her clinical course and succumbed shortly after undergoing stem cell transplantation. This case highlights the complexities of diagnosing genetic immunodeficiencies in infants and the critical need for genetic and clinical assessments.

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Conclusions

The patient was diagnosed with MALT1 deficiency, an autosomal recessive immunodeficiency syndrome characterized by severe infections and skin manifestations.
MALT1 deficiency was determined to be the likely cause of the patient's symptoms as suggested by genetic testing showing pathogenic mutations in MALT1.
Despite the presence of mutations in ABCA12, electromicroscopy findings indicated normal function of ABCA12, suggesting that it was not the primary cause of pathology in this patient.
The patient's condition worsened with severe infections post-diagnosis, leading to the need for a hematopoietic stem cell transplant, but unfortunately she did not survive the procedure.
This case demonstrates the importance of combining genetic testing with clinical findings and microscopy results to accurately determine the underlying causes of complex disease presentations in pediatric patients.

Jason Meyer, MD, PhD, FAAD, Vanderbilt Dermatology, Nashville VA Medical Center, AAD Annual Meeting March 8-12, 2024, San Diego, CA.
A Case of Neonatal Erythroderma with Mutations in ABCA12.