Faculty Bibliography

Balneotherapy is the treatment of disease by bathing in thermal spring water. This therapy has been used for centuries and remains a popular form of treatment for dermatologic and rheumatologic diseases today. Although the favorable climates of balneotherapy thermal centers have known beneficial effects on psoriasis and atopic dermatitis, the thermal spring waters themselves can also potentially decrease skin inflammation. The addition of phototherapy to balneotherapy, or balneophototherapy, further enhances the anti-inflammatory effects of thermal spring water. We have reviewed the literature on balneotherapy in the treatment of skin diseases, as well as describing their use in three different treatment sites, each with unique climates and chemical properties of the mineral water used in balneotherapy-the Dead Sea in Israel and Jordan, the La Roche-Posay Thermal Center in France, and the Blue Lagoon in Iceland.

Mastocytosis is a clinically heterogenous disease characterized by mast cell hyperplasia in skin, bone marrow and/or visceral organs. Cutaneous mastocytosis is more frequently observed in children, whereas indolent systemic mastocytosis is more commonly observed in adults. Aggressive systemic presentation, particularly of the neonate, is exceptionally rare. We present a rare case of congenital aggressive systemic mastocytosis. The patient was a 37-week-old male, born by caesarean section owing to hepatosplenomegaly and ascites diagnosed in utero, who exhibited extensive cutaneous and systemic manifestations of mastocytosis at birth. Mutation analysis of c-KIT identified D816V mutation in exon 17. Although initial bilateral bone marrow aspirates demonstrated no mast-cell infiltrates or haematological neoplasm, subsequent bone-marrow biopsies postmortem exhibited multifocal mast-cell aggregates. Clinical course was complicated by bacteraemia and cardiorespiratory failure, leading to death at 10 weeks.

Eruptive syringoma is a rare variant of syringoma, benign neoplasms of the eccrine sweat ducts that appear on the face, neck, chest, and axillae of predominately Asian and African American women before or during puberty [1, 2]. Lesions appear as small skin-colored or slightly pigmented, flat-topped papules [2]. The condition can be cosmetically disfiguring and difficult to treat, especially in dark-skinned patients. The investigators report a 52-year old Guyanese woman who presented with widespread, chronic, non-pruritic and nontender, skin-colored papules that arose approximately 20 years earlier. A punch biopsy of affected skin was obtained and the histological diagnosis was eruptive syringoma. The patient pursued no further treatment, after discussion of costs and risks.

Therapeutic regimens for the treatment and long-term management of AD traditionally had a two-fold objective of decreasing skin inflammation and repairing the defective skin barrier. Essential treatments for AD in children should include topical moisturizers for skin hydration and prevention of flares, topical anti-inflammatory medications (e.g. corticosteroids, calcineurin inhibitors, PDE4 inhibitor), allergen/irritant avoidance, and treatment of skin infections. Treatment regimens should be severity-based, and implemented in a stepwise approach tailored to the individual patient. This stepwise approach includes initial use of emollients, gentle skin care, and escalating to more potent anti-inflammatory treatments as the disease severity increases. Currently available systemic medications should be reserved for the presence of recalcitrance to topical therapies due to associated toxicities. We believe that early treatment of AD is not only essential in treating the skin disease, but also in preventing the development of additional atopic diseases, such as food allergy, asthma and allergic rhinitis. The defective skin barrier of AD permits a route of entry for food and environmental allergens, and upon exposure, keratinocytes secrete TSLP, which activates the T_H2 pathway. This T_H2 differentiation sets off the atopic march and the subsequent diseases that are seen. This review highlights treatment options and strategies in pediatric AD therapy with an emphasis on early therapy. Supporting evidence on the efficacy and safety of each intervention will be discussed.

The use of ionizing radiation is critical to cancer treatment and fluoroscopic procedures. However, despite efforts to minimize total radiation dose, many patients experience toxic cutaneous side-effects of ionizing radiation, ranging from mild erythema to subcutaneous fibrosis, telangiectasia formation, and ulceration. Extent of injury is highly variable among patients. Studying the genetic determinants of radiation injury can help develop protocols to reduce radiation toxicity, as well as drive research into effective modulators of the genes and gene products associated with radiation injury. Many studies in the past two decades have identified single-nucleotide polymorphisms that may be associated with susceptibility to cutaneous radiation injury, such as those in genes related to the following cellular responses to ionizing radiation: inflammation, DNA repair, oxidation and stress response, and cell-cycle and apoptosis. This review summarizes the current literature on potential major genes and polymorphisms, in the previously described damage response pathways, that are involved in susceptibility to cutaneous radiation injury. Potential pitfalls of current research and further avenues of discovery will be explored.

The conventional treatment for patients with pemphigus vulgaris (PV) centers on global immunosuppression, such as the use of steroids and other immunosuppressive drugs, to decrease titers of antidesmoglein autoantibodies responsible for the acantholytic blisters. Global immunosuppressants, however, cause serious side effects. The emergence of anti-CD20 biologic medications, such as rituximab, as an adjunct to conventional therapy has shifted the focus to targeted destruction of autoimmune B cells. Next-generation biologic medications with improved modes of delivery, pharmacology, and side effect profiles are constantly being developed, adding to the diversity of options for PV treatment. We review promising monoclonal antibodies, including veltuzumab, obinutuzumab (GA-101), ofatumumab, ocaratuzumab (AME-133v), PRO131921, and belimumab.