Download Atlas of Genodermatoses by Ruggero Caputo;Gianluca Tadini PDF

By Ruggero Caputo;Gianluca Tadini

ISBN-10: 1841842516

ISBN-13: 9781841842516

A lavishly illustrated advisor to nearly two hundred inherited illnesses of the surface, hair, and nails. each one access comprises synonyms, age of onset, scientific findings, problems, path, laboratory findings, analysis, treatment, and key references, including as much as way over only a number of pictures. as well as being a scientific primer, this can be additionally a piece of clinical examine and includes the 1st revealed description of 2 new syndromes. The fast-moving international of genetic examine signifies that the most recent genetic correlations, incorporated the following, render earlier texts outdated. All experts in dermatology and pediatrics should still locate this a useful front-line source within the hospital.

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J Am Acad Dermatol 2000; 42:1051–66 Gardella R, Barlati S, Zoppi N, et al. A-96C→T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa. Hum Mutat 2000; 16:275 Gardella R, Castiglia D, Posteraro P, et al. Genotype-phenotype correlation in Italian patients with dystrophic epidermolysis bullosa. J Invest Dermatol 2002; 119:1456–62 Gardella R, Nuytinck L, Barlati S, et al. Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient.

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.

Mutated keratins are not able to polymerize and to create the ultimate keratin filaments. 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.

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Atlas of Genodermatoses by Ruggero Caputo;Gianluca Tadini


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