Abstract
Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by a triad of congenital ichthyosiform erythroderma (CIE) or ichthyosis linearis circumflexa (ILC), hair shaft abnormalities, and atopic diathesis (elevated serum IgE ). We report a case of a two-year-old boy presented with intractable pruritus, scaling, dry skin and generalized eczematous lesions resistant to atopic dermatitis therapy. Netherton syndrome misdiagnosed as atopic dermatitis due to the presence of eczematous skin lesions and allergic problems. The family counseled about the diagnosis and need of genetic testing for confirmation, but they refused for genetic testing. The patient got treatment with topical corticosteroids and skin moisturizers. There is no cure or satisfactory treatment currently available for NS. Further understanding of the underlying pathophysiology of integumentary changes will lead to more effective treatment. Netherton syndrome should be in the differential diagnosis when characteristic skin manifestation of CIE or ILC, and elevated serum IgE present.
Highlights
Netherton syndrome (NS, MIM 256500) is a rare autosomal recessive disorder described by Comel (1949) and Netherton (1958)
Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by a triad of congenital ichthyosiform erythroderma (CIE) or ichthyosis linearis circumflexa (ILC), hair shaft abnormalities, and atopic diathesis
We report a case of a two-year-old boy presented with intractable pruritus, scaling, dry skin and generalized eczematous lesions resistant to atopic dermatitis therapy
Summary
Netherton syndrome (NS, MIM 256500) is a rare autosomal recessive disorder described by Comel (1949) and Netherton (1958). A two-year-old boy referred to our clinic with intractable pruritus, scaling, dry skin and generalized eczematous lesions resistant to atopic dermatitis therapy. Review of his medical record showed he was born at the 37th week of gestation after an uneventful pregnancy to healthy unrelated parents. During the following seven months the desquamation resolved, but the patient developed generalized, pruritic, erythematous lesions He got treatment with emollients, topical steroids and tacrolimus creams for severe atopic dermatitis during the next. At one year of age, serum IgE levels were 486 IU/ml and 530 IU/ml, respectively He had no family history of skin disorders.
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