A case of netherton syndrome: successful treatment with omalizumab and pulse prednisolone and its effects on cytokines and immunoglobulin levels.

CONTEXT: Netherton syndrome (NS) is associated with the mutation in the SPINK5 gene, which codes LEKTI (lymphoepithelial Kazaltype related inhibitor), a serine protease inhibitor. As a result of aging coupled with immune deficiency, clinical symptoms may vary.

METHODS

The patient was presented to our clinic with sparse and brittle hair along with pruritic, erythematous and scaling cutaneous lesions. The patient underwent a clinical examination and laboratory analyzes. Based on the clinical and laboratory findings, the patient was diagnosed with NS. Moreover, CRP, Complement-3 (C3), C4 IL-4, IL-5, IL-1β and IL-17A levels of serum were investigated as an apoptotic marker and a negative marker for inflammation.

RESULTS

Having undergone omalizumab treatment and a short-term (4 months) later, he had a decreased IgE, Ig G, prolactin, CRP, IL-4, IL-5, IL-1β and IL-17A levels. The IgA, IgM and C3, C4 levels were insignificant between before and after Omalizumab treatment.

CONCLUSION

To the best of our knowledge, this is the first time that an association between omalizumab and NS was documented. In conclusion allergic skin symptoms (pruritus, erythema and desquamation) and mucosal symptoms decreased in the patient.