Interprofessional Collaboration: Differentiating Netherton Syndrome and Atopic Dermatitis in an African American Infant

跨专业协作:鉴别非裔美国婴儿的内瑟顿综合征和特应性皮炎

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Abstract

Netherton syndrome is a rare, autosomal recessive disorder that clinically presents with a triad of congenital ichthyosiform erythroderma, hair shaft abnormalities, and immune dysregulation, which is confirmed with genetic testing for mutations in the serine protease inhibitor Kazal-type 5 (SPINK5) gene. This diagnosis was included in our differential due to the patient's recurring and unimproving rash with desquamating skin. While eczema was included in our differential diagnoses, the patient's systemic symptoms, including failure to thrive, prompted our team to consider other diagnoses. This patient endured numerous treatments and diagnostic tests to eliminate underlying immunodeficiencies and autoinflammatory diseases. In this case report, we present a two-month-old male who was originally brought into the outpatient pediatric clinic for severe eczema, periorbital swelling, and failure to thrive. The patient returned with a continuing exudative rash after amoxicillin suspension treatment and was ultimately hospitalized for IV antibiotic treatment. The patient was then transferred to multiple hospitals for treatment and final diagnosis of severe seborrheic dermatitis and atopic dermatitis. Multiple inpatient hospitals and outpatient clinics had to collaborate and communicate effectively to reach a diagnosis. The diagnosis for this patient was found after a true display of the value of interdisciplinary collaboration as several outpatient clinics and inpatient hospitals worked together for this outcome.

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