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Netherton syndrome (NS, MIM256500) is an autosomal recessive disorder that includes ichthyosis linearis circumflexa and a predisposition to allergies, asthma, and eczema, with hypereosinophilia, trichorrhexis invaginata, and elevated serum IgE levels. The genetic bases of Netherton syndrome are mutations in the gene SPINK5, and the Lymphoepitheial Kazal type related inhibitor, a serine protease inhibitor, is encoded by SPINK. Here a case is presented which showed a probable splice site mutation in SPINK5, which was previously unknown in databases and the literature, to point out the misdiagnosis of Hyper IgE Syndrome in the early presentation of the phenotype. This case highlights that a genetic test can be critical for identifying NS. The finding of underlying mutations contributes to the understanding of Netherton syndrome and is instrumental in indicating a specific therapy. Notably, treatment with acitretin has significantly improved both the ichthyosis linearis circumflexa and eczema in our patient. [ABSTRACT FROM AUTHOR]

Scabies is a common parasitic human infection in infants and children. However, diagnostic pitfalls are frequent in infants, in whom the clinical presentation is usually atypical and different from that in adults. In nodular scabies, lesions may be clinically or histologically misdiagnosed as Langerhans cell histiocytosis, insect bite reaction, non-Langerhans cell histiocytosis, lymphoma, or urticaria pigmentosa. We report two misleading cases of young infants (10- and 12-month-old infants) who presented with pruritic brown-red lesions on their trunks and showing a positive Darier's sign, suggestive of urticaria pigmentosa. [ABSTRACT FROM AUTHOR]