By Ruggero Caputo;Gianluca Tadini
A lavishly illustrated consultant to just about two hundred inherited ailments of the surface, hair, and nails. every one access comprises synonyms, age of onset, scientific findings, issues, direction, laboratory findings, analysis, treatment, and key references, including as much as excess of only a number of photos. as well as being a medical primer, this can be additionally a piece of medical examine and includes the 1st revealed description of 2 new syndromes. The fast-moving global of genetic study implies that the newest genetic correlations, integrated right here, render prior texts old-fashioned. All experts in dermatology and pediatrics should still locate this a useful front-line source within the health center.
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Additional info for Atlas of Genodermatoses
38), especially in the esophageal tract, where severe strictures are possible, often in sharp contrast with the scarce cutaneous involvement. 39). 40). To be defined as dominant, each dermolytic EB patient must have confirmation in the pedigree, in order to avoid the false parallelism: ‘mild case=dominant, severe case=recessive’ that in the past led to wrong genetic counseling. Recessive inherited types In the current classification two types are described as Hallopeau-Siemens type and ‘non’-Hallopeau-Siemens type, indicating, respectively, the ‘very severe’ cases and the ‘severe’ cases.
Defective integrin alpha 6 beta 4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia. J Invest Dermatol 1996; 107:384–91. Erratum in J Invest Dermatol 1997; 108:237 Cambiaghi S, Brusasco A, Restano L, et al. Epidermolysis bullosa pruriginosa. 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.
12). 14). In the latter case gonadic involvement is possible, leading to a rare pedigree in which a parent with diffuse linear EH gives birth to a child affected by epidermolytic hyperkeratosis (see cutaneous mosaicism, Chapter 25). 12 33 Atlas of genodermatoses 34 Course ● Lifelong and steady Laboratory findings Histologically there is a pattern, including acantholysis in the stratum spinosum, with hyperkeratosis and a ‘gothic church’ aspect. Ultrastructurally, cytolysis and filament clumping are visible in the suprabasal layers, with an increased number of corneocyte sheets.