Pediatric liver transplantation from a living donor in mitochondrial disease: Good outcomes in DGUOK deficiency?

DGUOK deficiency is an autosomal recessive mitochondrial disorder characterized by hepatic and neurological manifestations. In patients with liver failure, the decision to perform LT can be difficult due to the likelihood of progressive neurological disease. We present a case of a 9-month-old boy who had DGUOK deficiency (E227K/R118H genotype) intact neurological status and liver failure. His MRI indicated extensive white matter changes, which created hesitation to perform LT. After a multidisciplinary evaluation, he underwent LT from a living donor at 11 months of age. Six years post-transplant, he has had no significant complications and no progression of neurological symptoms. Our case supports that even in the presence of neurological MRI findings, but in the absence of significant neurological symptoms, LT represents a viable option in DGUOK-deficient patients who have the E227K/R118H mutation combination along with liver failure.

Saccharomyces cerevisiae as a skin physiology, pathology, and treatment model.

Saccharomyces cerevisiae serves as a useful model in experimental biology. Within dermatology research, several studies have examined this organism's role in skin physiology, pathology, and treatment. Saccharomyces cerevisiae has been used to explore the mechanisms of melanogenesis as its extract inhibits key enzymes involved in melanogenesis and melanosome transfer. Additionally, the lack of probiotic intestinal Saccharomyces cerevisiae has been associated with psoriasis, potentially related to the anti-inflammatory effects of the yeast. Furthermore, antibodies against Saccharomyces cerevisiae have been observed in skin conditions, including atopic dermatitis. Saccharomyces cerevisiae may even cause skin infections, such as septic emboli in a patient with acute myelogenous leukemia. Lastly, Saccharomyces cerevisiae has potential use in vaccine development against melanoma and is utilized to study various treatment modalities such as zinc pyrithione, an ingredient often used in anti-dandruff shampoo.

Botanical Briefs: Primula obconica Dermatitis.

Primula obconica, a household plant originally found in China that was introduced in Europe in the 1880s, has been reported to cause plant-induced contact dermatitis (CD). The condition more commonly is reported in Europe and less frequently in the United States, where the plant is not commonly included in patch testing protocols. Clinical features of P obconica CD can include facial and hand as well as fingertip dermatitis. The main allergens known to cause these findings are primin and miconidin. Treatment of P obconica CD mainly involves avoiding contact with the plant and applying a topical steroid.

The September 11, 2001, terrorist attacks from a dermatology perspective: A remembrance.

The terrorist attacks on September 11, 2001, caused a significant loss of life and resulted in injuries, plus other health issues that continue to plague many survivors and responders to this day. With the 20th anniversary of this tragedy approaching, this contribution looks at the dermatologic injuries suffered on the day of the attacks, including burns and lacerations, along with the chronic skin conditions that have afflicted survivors and responders during the nearly two decades since. These chronic illnesses include sarcoidosis, autoimmune disease, ill-defined skin lesions and irritation, nonmelanoma skin cancer, and melanoma. We also recognize the heroism of first responders who struggled to save the lives of those injured at the World Trade Center and the Pentagon, many of whom have suffered health consequences that continue to have lasting effects on them and on the people they treated.

Nutrition and art: 19th century images of scurvy, chlorosis, and pellagra.

Epidemics of nutritional deficiency disorders, caused by a lack of vitamins and minerals, were once very common and claimed many victims. Fortunately, advances in medicine have led to improved diets and a decline in the incidence of these disorders so that they are now seen clinically less often. Reminders of diseases such as scurvy, chlorosis, and pellagra can be found in artwork from the 19th century. The striking clinical presentation of these diseases caught the attention of artists who used them as themes in their work. We discuss the following three works of art: Gustave Doré's engraving for The Rime of the Ancient Mariner (plate 10), which features scurvy; Sebastian Junyent's painting Chlorosis; and Giuseppe Mentessi's painting Our Daily Bread, which portrays pellagra.

The first dermatologist to own a bungalow: Sir Erasmus Wilson.

Sir Erasmus Wilson (1809-1884) was a towering figure who pioneered dermatology in England. He was also a great advocate of regular bathing and the setting up of public baths. His emphasis on proper hygiene even extended to one's living quarters. In 1869, he became a driving force behind the construction of new bungalows at Westgate-on-Sea, a seaside resort located in Kent, England. Wilson believed that a bungalow was the best sanitary home for a family, and he purchased the first bungalow at Westgate-on-Sea. This contribution tells the story of Wilson's bungalow and how his emphasis on hygiene and a sanitary environment was a reflection of his broad vision of the role of the dermatologist in promoting patients' skin health and overall well-being.

Celestial effects on the skin.

Many factors affect the health and physiology of human skin, with some of them arising from outer space. This contribution explores four celestial influences on the skin: (1) the sun's ultraviolet light, which has both beneficial and deleterious dermatologic effects, (2) meteorite injuries, (3) possible lunar effects on the body's health, and (4) cosmic radiation as a risk factor for skin cancer and pregnancy-related complications. Some of these extraterrestrial influences on skin health have taken on added significance as human beings increasingly spend more time at higher altitudes in aircraft, spaceships, and space stations.

Blemished noses in the art of three masters: Ghirlandaio, Rembrandt, and Warhol.

Blemished noses are portrayed in the paintings of such noted artists as Ghirlandaio, Rembrandt, and Andy Warhol. Sometimes, the deformity results from a skin disorder such as rhinophyma as in Ghirlandaio's An Old Man and his Grandson or a saddle nose deformity from congenital syphilis as in Rembrandt's Portrait of Gerard de Lairesse. Andy Warhol's Before and After portrays a large nose before and after cosmetic surgery. This contribution explores some of the lessons that can be learned, both artistically and medically, from these famous works of art.

Bardolph's rosacea: skin disorders that define personality in Shakespeare's plays.

Several popular Shakespearean characters are dramatically portrayed on stage with striking physical appearances caused by medical and dermatologic disorders. Shakespeare's colorful portrayal of their maladies not only helps to entertain audiences but also serves to define the characters' personalities and behavior. Shakespeare himself emphasizes this point in his play Richard III, in which the notorious English king states that his evil nature is a direct result of his hideous spinal deformity. This contribution discusses four other famous Shakespearean characters: Bardolph, who appears to be suffering from rosacea; the Witches of Macbeth, who have beards; Juliet, who has green sickness (chlorosis); and Falstaff, who is morbidly obese. In all of these cases, their skin disorders and medical maladies serve to highlight their underlying nature.