Download Atlas of Genodermatoses by Ruggero Caputo;Gianluca Tadini PDF

By Ruggero Caputo;Gianluca Tadini

A lavishly illustrated consultant to just about two hundred inherited illnesses of the surface, hair, and nails. every one access contains synonyms, age of onset, medical findings, issues, direction, laboratory findings, prognosis, remedy, and key references, including as much as excess of only a selection of images. as well as being a scientific primer, this can be additionally a piece of clinical learn and includes the 1st published description of 2 new syndromes. The fast-moving global of genetic examine implies that the newest genetic correlations, integrated the following, render earlier texts outdated. All experts in dermatology and pediatrics may still locate this a useful front-line source within the sanatorium.

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13 Keratins appear as ‘balls’ or ‘clumps’ that are dynamically unable to cope with mechanical stress, leading to blister formation and erosions. Epidermolytic hyperkeratoses 35 In the same way an abnormal keratin substrate does not allow the formation of a physiological stratum corneum. 14 Therapy ● Emollients and mild keratolytic agents ● Antibiotics for cutaneous infections ● Retinoids may be useful in some cases Atlas of genodermatoses 36 REFERENCES Paller AS, Syder AJ, Chan YM, et al. Genetic and clinical mosaicism in a type of epidermal nevus.

Hum Mutat 1999; 13:439–52 Tadini G, Ermacora E, Cambiaghi S, et al. Positive response to 5TH-2 antagonists in a family affected by epidermolysis bullosa Dowling-Meara type. Dermatology 1993; 186:80 Tadini G, Kanitakis J, Cavalli R, et al. Altered expression of a new antigen of the dermal-epidermal junction (NU-T2 DEJ Ag) in junctional epidermolysis bullosa. Arch Dermatol Res 1995; 287:699–704 Turco AE, Peissel B, Rossetti S, et al. Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia.

Nails can be dystrophic. These patients may have a discomfiting, sweetish macerative odor. Extracutaneous symptoms and complications ● Infections by pyogenes bacteria ● Osseous remodeling in severe palmoplantar keratoderma Course A progressive amelioration of symptoms with age is reported. Laboratory findings, genetics and pathogenesis The disease is due to mutations in the keratin 2e gene and is autosomal dominant. Epidermolytic hyperkeratoses 37 Keratin 2e is expressed in the final steps of differentiation.

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