Inherited Keratinocyte Diseases (Ichthyosis and Related Disorders)
作者： Akemi Ishida-Yamamoto
DOI: 10.1007/978-3-540-78814-0_50
关键词:
摘要: Ichthyosis vulgaris (IV) is caused by mutations in the keratin fi lament aggregating protein (fi laggrin) gene [1] . IV inherited as a semidominant trait; homozygotes have severe phenotype, and heterozygotes mild phenotype. Filaggrin are major predisposing factor for atopic dermatitis well [2] The initial product of laggrin profi laggrin, main constituent keratohyalin granules. Profi proteolytically cleaved into multiple copies peptide. binds to aggregates cytoskeleton, resulting fl attening keratinocytes squames. also cross-linked cornifi ed cell envelopes form epidermal barrier. Loss or reduction leads impaired keratinization. Breakdown products can retain water outer stratum corneum their defi ciency may contribute scaling [3] 10.2.1.2 Clinical Characteristics Diagnosis
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