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This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.

This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.

This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.

This study found that sweat gland stem cells primarily maintain sweat gland homeostasis but can trans-differentiate to aid in epidermal healing and regenerate diverse skin structures under certain conditions.

This study identified proteins that are differentially expressed in balding versus non-balding dermal papilla cells, potentially aiding the understanding and treatment of androgenetic alopecia.