By Ruggero Caputo;Gianluca Tadini
A lavishly illustrated consultant to just about 2 hundred inherited ailments of the outside, 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 choice of photos. as well as being a medical primer, this is often additionally a piece of clinical examine and comprises the 1st revealed description of 2 new syndromes. The fast-moving global of genetic examine signifies that the newest genetic correlations, integrated the following, render prior texts old-fashioned. All experts in dermatology and pediatrics should still locate this a useful front-line source within the medical institution.
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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. N Engl J Med 1994; 331:1408–15 Porter RM, Lane EB. Phenotypes, genotypes and their contribution to understanding keratin function. Trends Genet 2003; 19:278–85 Vahlquist A, Ganemo A, Pigg M, et al. The clinical spectrum of congential ichthyosis in Sweden: a review of 127 cases.
Dermatology 1997; 195:65–8 Chavanas S, Gache Y, Tadini G, et al. A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1997; 109:74–8 Fine JD, Eady RA, Bauer EA, et al. Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol 2000; 42:1051–66 Gardella R, Barlati S, Zoppi N, et al.
Follow-up and therapy Atlas of genodermatoses 44 Emollients and keratolytic agents may be useful, as well as calcipotriol. Retinoid therapy can be used as an alternative. ) ● Diseases with collodion presentation Epidermolytic hyperkeratoses 45 ● Curth-Macklin disease REFERENCE Vahlquist A, Ganemo A, Pigg M, et al. The clinical spectrum of congenital ichthyosis in Sweden: a review of 127 cases. 1). 14). It is a persistent and longstanding disease. Laboratory findings Histopathologic features include foci of suprabasal clefts, and acantholytic dyskeratotic cells in the spinous and granular layers.
Atlas of Genodermatoses by Ruggero Caputo;Gianluca Tadini