Genetic and rare skin diseases.
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Scope of this subject
This cluster of papers focuses on genomic rearrangement disorders in skin diseases, particularly related to mutations in NEMO, ATP2C1, and other genes affecting NF-?B activation and calcium pump function. It covers a wide range of conditions such as incontinentia pigmenti, Hailey-Hailey disease, epidermal nevus syndromes, and Darier disease, providing insights into the molecular basis, clinical manifestations, and potential therapeutic targets for these disorders.
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Research vocabulary
genodermatosis; Darier disease; hereditary skin disease; palmoplantar keratoderma; incontinentia pigmenti; Blaschko lines; keratinization disorders; Hailey-Hailey disease; porokeratosis; keratoderma; ichthyosis; Papillon-Lefèvre syndrome; congenital skin disorders; acantholysis; lipoid proteinosis; epidermal nevus; congenital ichthyosis; congenital skin lesion; cornoid lamella; disseminated superficial actinic porokeratosis; sebaceous nevus; hypomelanosis of Ito; focal dermal hypoplasia; harlequin ichthyosis; lichen striatus
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Numeric address and provenance
Morton address: 38285012193535695 · morton4x16-v1
Coordinates: (1, 13, 1311, 12355). The address interleaves categorical identifier bits. Nearby addresses are not guaranteed to describe semantically similar subjects.
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