By Ruggero Caputo;Gianluca Tadini
A lavishly illustrated advisor to nearly two hundred inherited ailments of the surface, hair, and nails. each one access contains synonyms, age of onset, scientific findings, problems, path, laboratory findings, prognosis, treatment, and key references, including as much as way over only a choice of pictures. as well as being a medical primer, this is often additionally a piece of clinical study and includes the 1st revealed description of 2 new syndromes. The fast-moving global of genetic study implies that the newest genetic correlations, integrated the following, render earlier texts outdated.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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Additional resources for Atlas of Genodermatoses
J Invest Dermatol 2003; 121:1013–20 ICHTHYOSIS BULLOSA OF SIEMENS Age of onset ● At birth Epidemiology There are no available data. The estimated prevalence is 1:500 000. Clinical findings At birth, a collodion-like presentation is possible. Ichthyosis bullosa of Siemens (IBS) is defined by a picture of superficial hyperkeratosis and erosions with rare bullae in the first years of life. 17). Palmoplantar keratoderma is always present, as well as involvement of the scalp. Nails can be dystrophic.
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. Ichthyosis Curth-Macklin: a new sporadic case with immunohistochemical study of keratin expression. Arch Dermatol 1994; 130:1077–9 Ishida-Yamamoto A, Richard G, Takahashi H, Iizuka H. In vivo studies of mutant keratin 1 in ichthyosis hystrix Curth-Macklin. J Invest Dematol 2003; 120:498–500 Ishida-Yamamoto A, Takahashi H, Iizuka H.
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. J Invest Dermatol 2003; 121:1013–20 ICHTHYOSIS BULLOSA OF SIEMENS Age of onset ● At birth Epidemiology There are no available data. The estimated prevalence is 1:500 000.