Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C

Özet

Netherton syndrome (NS, MIM256500) is an autosomal recessive disorderthat includes ichthyosis linearis circumflexa and a predisposition to allergies,asthma, and eczema, with hypereosinophilia, trichorrhexis invaginata, andelevated serum IgE levels. The genetic bases of Netherton syndrome aremutations in the gene SPINK5, and the Lymphoepitheial Kazal type relatedinhibitor, a serine protease inhibitor, is encoded by SPINK.Here a case is presented which showed a probable splice site mutation inSPINK5, which was previously unknown in databases and the literature, topoint out the misdiagnosis of Hyper IgE Syndrome in the early presentationof the phenotype. This case highlights that a genetic test can be criticalfor identifying NS. The finding of underlying mutations contributes to theunderstanding of Netherton syndrome and is instrumental in indicating aspecific therapy. Notably, treatment with acitretin has significantly improvedboth the ichthyosis linearis circumflexa and eczema in our patient.