Poikiloderma Syndromes

Alan D. Irvine, Jemima E. Mellerio


Characterized by mixed hypo‐ and hyperpigmentation, skin atrophy and telangiectasia, poikiloderma is a feature of a number of different genetic skin diseases including dyskeratosis congenita, Rothmund–Thomson syndrome, Kindler syndrome and poikiloderma with neutropenia. Systemic associations of these disorders may include developmental abnormalities, a predisopsition to malignancy or infection, or progressive fibrosis of the bone marrow and other organs. Clinical and, where possible, genetic evaluation are vital to anticipation of potential complications, targeted management and genetic counselling.
Keywords poikiloderma, dyskeratosis congenita, Rothmund–Thomson syndrome, poikiloderma with neutropenia, Kindler syndrome, hereditary fibrosing poikiloderma, acrokeratotic poikiloderma of Weary, telomere, bone marrow failure


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