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Regulation of keratin expression by retinoids. [PDF]
Dermatoendocrinol, 2011 Törmä H.
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Mosaicism in Cutaneous Disorders. [PDF]
Annu Rev Genet, 2017 Lim YH, Moscato Z, Choate KA.
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The prevalence, clinical features and genetics of epidermolysis bullosa in Scotland [PDF]
, 2003 Horn, Helen Mary
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European S2k Guideline on Chronic Pruritus [PDF]
Acta Derm VenereolWeisshaar E +13 more
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Nature Reviews Disease Primers, 2023 [EN]The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can be inherited or acquired, and result in defective keratinocyte differentiation and abnormal epidermal barrier formation.
, Masashi, Angela Hernandez-Martin
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Ichthyosis bullosa of Siemens: Further delineation of the phenotype
Archives of Dermatological Research, 1990We report a third family affected with ichthyosis bullosa of Siemens, and we further delineate the clinical spectrum of this mild type of epidermolytic hyperkeratosis. Erythroderma had never been present in any of the affected individuals. All of them exhibited a brownish, rimpled hyperkeratosis, the main characteristic sites being the joints, the ...
P M, Steijlen +4 more
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Ichthyosis bullosa of Siemens: A unique type of epidermolytic hyperkeratosis
Journal of the American Academy of Dermatology, 1986We report the second family of ichthyosis bullosa, an entity that was first described by Siemens in 1937 and since then has fallen into oblivion. Clinically, ichthyosis bullosa is characterized by blistering resembling epidermolysis bullosa simplex and by generalized, yet circumscribed dark gray hyperkeratoses covering mainly the arms and the legs ...
H, Traupe, G, Kolde, H, Hamm, R, Happle
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