By Ruggero Caputo;Gianluca Tadini
A lavishly illustrated advisor to just about 2 hundred inherited ailments of the outside, hair, and nails. each one access comprises synonyms, age of onset, scientific findings, issues, direction, laboratory findings, prognosis, treatment, and key references, including as much as excess of only a choice of photos. as well as being a medical primer, this is often additionally a piece of clinical examine and includes the 1st revealed description of 2 new syndromes. The fast-moving international of genetic study signifies that the newest genetic correlations, integrated right here, render earlier texts outdated. All experts in dermatology and pediatrics should still locate this a useful front-line source within the medical institution.
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Extra resources for Atlas of Genodermatoses
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. 7 Genetics and pathogenesis This is an autosomal dominant disease related to mutations of a gene ATP2A2 encoding a specific keratinocyte Ca2+ pump. These mutations are responsible for an impaired formation of desmosomes and for the subsequent increased acantholysis.
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. Acta Derm Venereol (Stockh) 2003; 213 Suppl: 34–47 Virtanen M, Smith SK, Gedde-Dahl T Jr, et al. Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.
22 Palmoplantar areas and scalp are involved, and nails may be thickened. The face may be erythematous. Extracutaneous symptoms and complications Rarely, these patients may experience cutaneous infections. 22). Genetics and pathogenesis CM is inherited as an autosomal dominat trait. Keratin 1 gene mutations are responsible in the pathogenesis of the disease, making Curth-Macklin disease a mere variant of classic epidermolytic hyperkeratosis. Differential diagnosis ● Epidermolytic hyperkeratosis ● Ichthyoses Atlas of genodermatoses 42 Follow-up and therapy ● Emollients and keratolytics are needed REFERENCES Brusasco A, Cavalli R, Cambiaghi S, et al.