Regression and disappearance of clinical symptoms in some cases of genodermatoses.
Genetic skin diseases are usually thought of as stable phenotypes caused by a mutant gene. However, a review of the literature on genodermatoses and my personal experience with a number of these disorders show that the concept of a stable phenotype is not always true. A number of genodermatoses actually show a regression of symptoms. Among these are monilethrix, several types of erythrokeratoderma, several forms of palmoplantar keratoderma such as the varians Wachters type and the Richner-Hanhart syndrome, and some forms of epidermolysis bullosa, for example the Dowling-Meara type. Three different reasons possibly underlying the regression of symptoms in genetic diseases are briefly discussed: (1) environmental factors, (2) hormonal influences and (3) movable, transposable elements causing instability of the genome.
Department of Stomatopathology, Faculty of Stomatology, University of Sarajevo, Bosnia.
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D003873:Dermatitis, Exfoliative / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000175:diagnosis / Q000235:genetics; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D012075:Remission, Spontaneous; D012871:Skin Diseases / Q000175:diagnosis* / Q000235:genetics*