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Xeroderma Pigmentosum Variant Type, a Genodermatosis With Long‐Term Survival
JEADV Clinical PracticeJEADV Clinical Practice, Volume 5, Issue 1, Page 286-287, March 2026.
Perez-Romero Ana Gabriela +1 more
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X-linked ichthyosis: An oculocutaneous genodermatosis
Journal of the American Academy of Dermatology, 2010X-linked ichthyosis (XLI) is an X-linked recessive disorder of cutaneous keratinization with possible extracutaneous manifestations. It was first described as a distinct type of ichthyosis in 1965. XLI is caused by a deficiency in steroid sulfatase activity, which results in abnormal desquamation and a retention hyperkeratosis.
Camila K Jänniger
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Dupilumab in the treatment of genodermatosis: A systematic review
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 2023SummaryDupilumab interferes with the signaling pathways of IL‐4 and IL‐13 and is effective in treating atopic dermatitis. Specific genodermatoses, including Netherton syndrome, epidermolysis bullosa pruriginosa, and hyper‐IgE syndrome, are Th2 skewed diseases with activation of type 2 inflammation. We performed this systematic review to investigate the
Po-Chien, Wu +5 more
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Can You Identify the Genodermatosis?
Actas Dermo-sifiliográficas, 2015 R, Santesteban Muruzábal +2 more
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A current and online genodermatosis database
British Journal of Dermatology, 2007Clinical dermatologists have great difficulty keeping abreast of research in genetic skin disease. This is because there is too much information, in too many places, and in an unfamiliar language. In this review we have simplified and tabulated our current knowledge of the genodermatoses. We hope this 'at a glance' online guide will help dermatologists
Leech SN, Moss C
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Classic Dowling Degos disease: a rare genodermatosis
Italian Journal of Dermatology and Venereology, 2019N ...
Piccolo, Vincenzo +5 more
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The scleroatrophic syndrome of Huriez: a cancer-prone genodermatosis
British Journal of Dermatology, 1996We report a 24-year-old woman, her 6-year-old son and her 17-month-old daughter, who all suffer from a rare congenital genodermatosis first delineated by Huriez et al. in the 1960s. The clinical features of this autosomal dominant condition include scleroatrophy of the hands and feet, nail hypoplasia, mild palmoplantar keratoderma and hypohidrosis ...
Henning Hamm, H Traupe, G Kolde
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Plantar pain and thickened nails: a genodermatosis
Archives of Disease in Childhood, 2019A 7-year-old boy, of non-consanguineous parentage and developing normally, presented with painful lesions on the soles from the time he learnt to walk, even with proper footwear. There was no relevant family history. Cutaneous examination revealed focal, tender hyperkeratotic plaques on the pressure-bearing areas of the soles (figure 1).
Dibyendu Bikash Bhanja +4 more
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Genodermatosis: Inherited Skin Diseases
2021Genodermatoses are inherited, genetic skin conditions which can be classified into these three categories: chromosomal defect, a single gene defect or polygenetic. They may run in families (inherited skin disorders) or may occur as a result of a new mutation.
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