Investigations Subtype Frequency Urine dipstick All types Each clinic visit Urine culture All types If dipstick (+) Urea, creatinine, electrolytes (Na, K), liver function tests (total bilirubin, albumin, alkaline phosphatase,…
Fig. 27.1 Clinical features of EDSF syndrome. A useful diagnostic clue is the perioral erosions and cheilitis, seen here (a) in a neonate and (b) in a child. Additional features…
Fig. 11.1 Anchoring fibril assembly and the consequences of the major types of mutations on type VII collagen protein synthesis in DEB. The left side shows the physiology of type…
Fig. 74.1 Quality of Life in Epidermolysis Bullosa (QOLEB) Questionnaire Currently only an adult form of this questionnaire exists, although translation and validation of the questionnaire in other languages as…
Major criteria Polymorphous mucocutaneous eruption Painful and persistent stomatitis Respiratory involvement Concurrent internal neoplasia Immunoprecipitation: 190, 210 (doublet), 230, and 250 kDa bands Minor criteria Acantholysis and/or subepidermal split Direct…
Fig. 72.1 (a) Pre-fluroscopically guided esophageal dilatation. (b) Post-fluroscopically guided esophageal dilatation Gastrostomy can be performed in symptomatic EB patients who experience continuing failure to thrive with inadequate nutritional intake…
Low bone mineral densitya Advanced agea Female sexa Prior history of fragility (low-trauma) fracturea Glucocorticoid usea,b Low body mass indexa Parental history of hip fracturea Cigarette smokinga,b Excess alcohol consumptiona,b…
Fig. 50.1 Diagram of the structure of tetracyclines As early as the 1960s, tetracycline was studied and used as a modality of treatment in rosacea and acne [2]. Currently, the…
Fig. 52.1 Grams of IVIG issued by discipline over time in Australia [2] In Australia, 2003, the National Blood Agreement (NBA) was created. This led to the creation of the…
Fig. 41.1 Tense bullae typical of bullous systemic lupus erythematosus on a 21-year-old African American female Fig. 41.2 The vesicles and bullae in bullous systemic lupus erythematosus typically progress to…
