General Dermatology Archives - Page 3 of 3

A Genetic Variation That Could Protect Skin From Sun Damage Fuels Testicular Cancer

October 17, 2013

A Ludwig Cancer Research study published in Cell today identifies a common mutation that dramatically increases the risk for testicular cancer—and describes a likely molecular mechanism by which it exerts that effect. The researchers also suggest why, despite its potential lethality, the genetic variation has been favored by natural selection to become common in light-skinned people. It appears this mutation might aid the tanning of Caucasian skin in response to sunlight, protecting it from UV radiation, which can burn and cause cancer.

Pediatrics

Preventing Skin Cancer in Children Begins with the Right Sunscreen

June 27, 2013

It is well known that exposure to the sun is the key risk factor for developing skin cancer. And while most parents are aware that applying sunscreen to their children is important, many go wrong by not taking the time to choose the most effective sunscreen, or they don’t understand the limitations of sunscreen.

Profile in Rare Diseases

Recessive Dystrophic Epidermolysis Bullosa

May 8, 2013

Dystrophic epidermolysis bullosa (DEB) is a group of rare inherited diseases that cause skin fragility and blistering. A recent classification includes 3 subtypes: severe generalized recessive DEB (RDEB-sev gen), generalized other recessive DEB (RDEB-O), and dominant DEB (DDEB). DEB occurs because of a type VII collagen defect in the anchoring fibrils in the epidermal-dermal junction (in the lamina densa of the cutaneous basement membrane). Both the recessive and dominant variants stem from a mutation in the type VII collagen gene COL7A1. The recessive variant, RDEB-sev gen, is perhaps the most catastrophic and tragic. There is some literature that indicates an occasional de novo mutation, but generally it is inherited.

Profile in Rare Diseases

Porphyria

April 3, 2013

The name porphyria is taken from the Greek root for purple (porphyra). Porphyrias are a group of 8 inherited or acquired disorders of heme biosynthesis. A deficiency in any of the 8 enzymes in the biosynthetic pathway can result in the accumulation and excretion of intermediary metabolites. Patients generally present with either neurovisceral (acute) or cutaneous symptoms but sometimes they may have mixed symptoms. One of the earliest descriptions of porphyria was made by B.J. Stokvis, MD, in 1889. In 1930, the German chemist Hans Fischer described porphyrins as The compounds which make grass green and blood red. In 1937, Jan Gosata Walenstrom coined the term porphyria he published research identifying one type of porphyria, acute intermittent porphyria (AIP). By 1960, all 8 types of porphyria had been described, as well as environmental factors that affect the course of the disease. Porphyria research in the 1980s and 1990s identified the molecular defects in each type.

Despicable Doctors

Michael Rosin

January 25, 2013

Here is the story of a doctor who lost his moral compass.

Dr. Michael A. Rosin was a well-respected community member, family man, and dermatologist in Sarasota, Florida. He specialized in Mohs micrographic surgery, which is a technique that excises skin cancer via removal of multiple thin layers of skin.