January 2023 in “Indian dermatology online journal” This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
1 citations
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November 2003 in “SKINmed Dermatology for the Clinician” This case report describes a 17-year-old patient diagnosed with Netherton syndrome, characterized by pruritic dry skin, short brittle hair, and elevated IgE levels, treated with antihistamines and emollients.
1 citations
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February 2013 in “InTech eBooks” This article discusses research about Netherton syndrome, highlighting its contributions to understanding epidermal structure, immune responses, and processes like atopic dermatitis, but it reports no new clinical findings.
59 citations
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June 2008 in “Journal of The American Academy of Dermatology” This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.
3 citations
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September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
