By Ruggero Caputo;Gianluca Tadini

A lavishly illustrated consultant to nearly two hundred inherited ailments of the outside, hair, and nails. each one access contains synonyms, age of onset, scientific findings, problems, direction, laboratory findings, analysis, remedy, and key references, including as much as way over only a number of photos. as well as being a medical primer, this is often additionally a piece of clinical learn and includes the 1st revealed description of 2 new syndromes. The fast-moving global of genetic study signifies that the most recent genetic correlations, integrated right here, render past texts outdated. All experts in dermatology and pediatrics should still locate this a useful front-line source within the health facility.

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51). This presentation is rare, and may be related to the presence of autoantibodies against collagen VII protein. 51 ● Radiography for esophageal strictures ● Multidisciplinary approach: – odontostomatology for caries and oral erosions – pediatrics for anemia, renal insufficiency and nutrition – physiotherapy for hands, feet and joints – plastic and hand surgeons for correction of pseudosyndactyly – urologist and gynecologist for urethral and vulvar restrictions – thoracic surgeon for esophageal dilatation Therapy ● Antiseptic local therapy ● Special dressings and gauzes ● Antibiotic therapy, local and systemic ● Human recombinant erythropoietin and iron for anemia ● Vaccines (especially for varicella and measles) ● Surgical treatment for scars on hands (and feet) ● Surgical treatment for skin tumors ● Genetic therapy Atlas of genodermatoses 28 Differential diagnosis of all types of hereditary EB ● Kindler’s syndrome ● Epidermolytic hyperkeratosis ● Congenital syphilis ● Congenital bullous autoimmune disease REFERENCES Baudoin C, Miquel C, Cagnoux-Palacios L, et al.

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. 48). 34 phenotype, with generalized cutaneous involvement and esophageal strictures with or without cicatricial pseudosyndactyly of the hands and feet.

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. Am J Med Genet 1993; 47:1225–30 CHAPTER 2 Epidermolytic hyperkeratoses ‘CLASSICAL’ EPIDERMOLYTIC HYPERKERATOSIS Synonym ● Bullous ichthyosiform erythroderma Age of onset ● At birth Epidemiology Even though it is a well-known and established disease, there is no accurate study of incidence and prevalence.

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