Ectodermal Dysplasia Skin Fragility Syndrome
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…
COL7A1 and Its Role in Dystrophic Epidermolysis Bullosa
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…
Living with Epidermolysis Bullosa: Reviewing the Impact on Individuals’ Quality of Life
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…
Paraneoplastic Autoimmune Multiorgan Syndrome: Paraneoplastic Pemphigus Revisited
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…
Treatment of EB Complications: Esophageal Strictures, Pseudosyndactyly, Urethral and Meatal Stenosis, and Laryngeal Stenosis
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…
Treatment and Prevention of Glucocorticoid-Induced Osteoporosis
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…
Tetracyclines and Their Use in Autoimmune Bullous Diseases and Epidermolysis Bullosa
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…
Using Intravenous Immunoglobulins in Autoimmune Bullous Diseases
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…
Clinical Features of Bullous Systemic Lupus Erythematosus
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…
Azathioprine
Fig. 47.1 Structure of azathioprine. The dashed line marks the cleavage site 47.2 Molecular Mechanism and Metabolism Azathioprine is a purine analogue prodrug that requires metabolic conversion into active compounds….
