2 citations
,
September 2004 in “Experimental Dermatology” This review discusses how dysfunction in keratinocyte adhesion affects skin integrity and conditions like alopecia and keratoderma, highlighting the roles of intercellular junctions, and reports no new clinical results.
8 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.
This chapter reviews various skin disorders classified as Mendelian disorders of cornification and reports no new clinical findings, highlighting the complexity of genetics involved in inherited ichthyoses.
December 2016 in “Journal of evolution of medical and dental sciences” This study reported common skin changes and symptoms associated with thyroid disorders, such as dry skin in hypothyroidism and warm, soft skin in hyperthyroidism, and noted urticaria as a frequent autoimmune association in hypothyroid patients.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.