Netherton Syndrome in a 1-year-old Filipino Female

Abstract

Abstract Netherton syndrome (NS) is an autosomal recessive genodermatosis characterized by cutaneous and systemic complications (recurrent infections, dehydration, and sepsis). This highlights the urgency of making an accurate diagnosis, especially in infants and children. However, it is important to note that the recognition of NS is usually delayed due to its rarity and similarity to cutaneous disorders with atopiform, erythrodermic, and ichthyosiform presentations. We report a case of a 1-year-old female who was previously diagnosed with a case of infantile psoriasis and was subsequently treated with topical emollients. However, after months of surveillance, the patient developed feeding problems, failure to thrive, recurrent diarrhea, upper respiratory tract, and gastrointestinal infection, leading to repeated hospitalizations. The patient then underwent further clinical examinations and laboratory analysis, which revealed abnormal hair shaft findings, elevated immunoglobulin (Ig) E levels, and normal chromosomal analysis. Multispecialty referrals with other services were done to address the current problems and ensure holistic care for the patient. On her last admission, the patient was given three doses of intravenous Ig therapy with noted improvement in lesion presentation without any systemic symptoms.