[Tuberous xanthomatosis, ulerythema ophryogenes and keratosis pilaris; pathogenic considerations]. 1949

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UI MeSH Term Description Entries
D007644 Darier Disease An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES. Acrokeratosis Verruciformis of Hopf,Darier-White Disease,Keratosis Follicularis,Acantholytic Dyskeratotic Epidermal Nevi,Acantholytic Dyskeratotic Epidermal Nevus,Acrokeratosis Verruciformis,Darier's Disease,Hopf Disease,Darier White Disease,Darier-White Diseases,Dariers Disease,Disease, Darier,Disease, Darier's,Disease, Darier-White,Disease, Hopf,Diseases, Darier-White,Diseases, Hopf,Hopf Acrokeratosis Verruciformis,Hopf Diseases,Verruciformis, Acrokeratosis
D008055 Lipids A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed) Lipid
D005138 Eyebrows Curved rows of HAIR located on the upper edges of the eye sockets. Eyebrow
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D014973 Xanthomatosis A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS. Xanthoma,Xanthomas,Xanthomatoses

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