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A new splice-site mutation of SPINK5 gene in the Netherton syndrome with different clinical features: A case report
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A new splice-site mutation of SPINK5 gene in the Netherton syndrome with different clinical features: A case report
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Journal Article
A new splice-site mutation of SPINK5 gene in the Netherton syndrome with different clinical features: A case report
2020
Overview
Netherton syndrome (NS) is a rare genodermatosis characterized by the triad of ichthyosiform erythroderma, hair shaft abnormality and an atopic diathesis. We report a case of a 20-year-old male patient presented with pruritus, decreased sweat secretion and generalized erythema on his body. Netherton syndrome is caused by mutations in the
gene that is a crucial role for epidermal barrier function in the skin. Different clinical and phenotypical features can occur based on various LEKTI-domains mutations. Diagnosis is made by the atopic story, hair shaft abnormality, cutaneous lesions and identification of the
gene mutation. In our patient, we detected a new splice site mutation in the
gene and pili annulati as hair abnormality. Affected patients are usually misdiagnosed because of cutaneous lesions such as atopic dermatitis. Therefore, each clinical finding should be evaluated together. We aimed to present a case with a new
gene mutation and different clinical features in NS.
Publisher
Sciendo,De Gruyter Brill Sp. z o.o., Paradigm Publishing Services
Subject
