Amy Y.-Y. Chen

Vascular complications and gene therapy.

For gene therapy, the last few years have been an exciting period. Encouraging results from several successful gene therapy trials were reported. Children born with a life-threatening immune system disorder, severe combined immune deficiency (SCID), were cured after receiving gene therapy for replacement of their defective adenosine deaminase (ADA) gene. Gene therapy successes related to vascular complications were also reported. The first human gene therapy trial for a blood-vessel disorder was performed successfully, in which copies of an angiogenic gene, the vascular endothelial growth factor (VEGF) gene, were directly delivered to the area surrounding the diseased artery of the leg of a patient with peripheral artery disease. Within a few days, this stimulated the growth of new blood vessels around the blockage in the ailing blood vessel and helped avoid amputation. In 1998, a patient with genetically small arteries became the first to receive VEGF gene therapy in the heart. Multiple copies of a plasmid with the VEGF gene were delivered into the damaged area of the heart, and a few days later angiogenesis ensued that helped bypass the blocked vessel, with markedly reduced chest pain in the patient. Gene therapy is becoming a reality and, more importantly, it appears to be safe and does not require supplementary immuno-suppressing drugs. Gene therapy seems to have begun delivering on its promises.

Fluorescence In Situ Hybridization

There is a rumor that goes like this: After a particularly successful day at an international genetics conference in the late 1960s in Scotland, delegates rewarded themselves with the customary pint of beer at their favorite watering hole, the public house. In the extraordinary environment that can only be achieved when eminent or pseudo-eminent scientists meet together in a public house, there was a huge exchange of ideas and thoughts among the delegates. Beers flowed freely and more ideas were shared, even ideas that could not reasonably be allowed at the official meeting forum! Amid the thin and hazy atmosphere of the public house, thick with the acrid smoke of unproven ideas, someone confidently suggested that he was going to hybridize DNA probes onto whole cells! Silence ensued after this outrageous comment. “You are going to perform a hybridization experiment in situ? You must be mad. You’ll never do it!” said a fellow eminent scientist helpfully. The matter being put right so swiftly, the delegates then continued long into the night with other similarly outrageous ideas.

Bullous diaper dermatitis with cloth diaper use

Irritant diaper dermatitis occurs at a higher frequency with cloth diaper use than disposable diapers. We present four cases of vesiculobullous, erosive diaper dermatitis occurring in older infants and toddlers with cloth diaper use that resolved completely after transitioning to disposable diapers. This is the first report of vesicles and bullae as a type of irritant diaper dermatitis.

Bullous Pemphigoid and Tetracycline

An 85 year old female nursing home resident with a history of alcoholism, poorly controlled diabetes, hypertension and gout was brought to the dermatology clinic for a 6 month history of itchy skin and blisters. On exam, there were tense bullae on erythematous and normal appearing skin as well as urticarial, eroded and crusted plaques on the inner aspects of bilateral upper and lower extremities, and extensor surfaces of lower extremities (Fig. 3.1). Nikolsky’s sign was negative and the oral mucosa was clear. Her current medications include hydrochlorothiazide, lisinopril, glipizide, metformin and allopurinol. Two biopsies were performed. H&E showed subepidermal bullae with numerous eosinophils and rare neutrophils. No acantholysis. Direct immunofluorescence demonstrates linear IgG and C3 along the basement membrane. A diagnosis of bullous pemphigoid was made. What is the best management option for her?