Netherton syndrome (NS) is associated with the mutation in the SPINK5 gene, which codes LEKTI (lymphoepithelial Kazaltype related inhibitor), a serine protease inhibitor. LEKTI is expressed in epithelium, mucosa, and thymus. It is localized in the stratum granulosum of normal skin. NS is a rare genodermatosis characterized by autosomal recessive inheritance pattern,unknown etiology, ichthyosiform cutaneous changes, atopic diathesis, and alterations in the hair shaft. As a result of aging coupled with immune deficiency, clinical symptoms may vary.
Materials and methods: A 20-year-old white Caucasian male presented to our Allergy-Immunology Unit with pruritus of the face and feet, skin desquamation, and sparse and thin hair. Dermatological examination demonstrated brittleness and scaling of the hairs, eyebrows, and eyelashes; erythema and desquamation of the cheeks; pinkish-red macules with scales; hypopigmented macular lesions on the ichthyosiform skin involving the area beginning from the patella and extending to the distal part of the leg; and lichenified, erythematous plaques with patchy fissures in both antecubital and popliteal regions. Microscopic examination of the material collected from the nails showed no fungal components. Subungual hyperkeratosis, discoloration, and destruction were noted in the toe nails. Patient presented to our clinic with sparse and brittle hair along with pruritic, erythematous, and scaling cutaneous lesions. Patient underwent a clinical examination and laboratory analyses. Based on the clinical and laboratory findings, patient diagnosed with Netherton syndrome.
Results:Laboratory analyses yielded normal results except for a leukocyte count of 7,300/μL, CRP of 25.6 mg/mL (normal range:0-5 mg/mL) and a total IgE of 31700 IU/mL (normal range:0-100 IU/mL) and IgG of 20g/L(normal range:7-16), IgA of 4g/L(normal range:0.7-4), IgM of 0.9g/L(normal range:0.4-2.3) and cow’s milk,mite,grass, egg, hazelnut, orange, wheat , strawberry allergy were detected in the specific IgE studies. Anti nuclear antibody, hepatitis markers, HIV and rheumatoid factor were negative in patient. Renal function tests, complement-4 (C4), C3 levels were within normal ranges. During omalizumab treatment and after a short-term (4 months) treatment with omalizumab, he had a decreased CRP, IL-4, IL-5, IL-17, IL-1β and CD19-20, CD200 and had an increased CXCL8 levels.
Conclusion:NS, peeling skin syndrome type B, and skin dermatitis--multiple severe allergies--metabolic wasting syndrome are 3 autosomal recessive disorder resulting from aberrant regulation of epidermal desquamation. To our knowledge, this is the first time an association between omalizumab use and NS has been documented. As a conclusion allergic skin symptoms (pruritus, erythema, desquamation) and mucosal symptoms were decreased in patient.