Dermatological Aspects of the S2k Guidelines on Down Syndrome in Childhood and Adolescence

    Regina Fölster‐Holst, Tilman Rohrer, Anna‐Maria Jung
    TLDR Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
    Down syndrome (DS), occurring in 1 in 700 births, was associated with various organ system disorders, including serious conditions like cardiac defects and leukemia. Skin manifestations in newborns with DS included pustules/vesiculopustules, which could indicate typical neonatal rashes, infections, or transient myeloproliferative disorder. Most skin conditions in DS were benign and involved keratinization disorders such as xerosis, keratosis pilaris, lichenification, and ichthyosis vulgaris. The four-finger palmar crease (simian crease) was common but not specific to DS. Folliculitides often progressed to anetoderma due to elastolysis. Immune disturbances in DS patients explained the prevalence of autoimmune diseases like alopecia areata and vitiligo. Other typical skin conditions included elastosis perforans serpiginosa, syringomas, milia-like calcinosis cutis, and multiple eruptive dermatofibromas.
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