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Skin Care

Genetics Home Reference: Dowling-Degos disease

Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body’s folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the …

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Genetics Home Reference: Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis

Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally described as separate conditions; however, because they have similar features and …

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Genetics Home Reference: Hermansky-Pudlak syndrome

Bultema JJ, Ambrosio AL, Burek CL, Di Pietro SM. BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles. J Biol Chem. 2012 Jun 1;287(23):19550-63. doi: 10.1074/jbc.M112.351908. Epub 2012 Apr 16. Bultema JJ, Di Pietro SM. Cell type-specific Rab32 and …

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Genetics Home Reference: autosomal recessive hyper-IgE syndrome

Engelhardt KR, Gertz ME, Keles S, Schäffer AA, Sigmund EC, Glocker C, Saghafi S, Pourpak Z, Ceja R, Sassi A, Graham LE, Massaad MJ, Mellouli F, Ben-Mustapha I, Khemiri M, Kilic SS, Etzioni A, Freeman AF, Thiel J, Schulze I, Al-Herz W, Metin A, Sanal Ö, Tezcan I, Yeganeh M, …

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