Merkel cell polyomavirus detection in a patient with familial epidermodysplasia verruciformis.

We report a case of Merkel cell polyomavirus detection in the skin of a patient with epidermodysplasia verruciformis (EDV) and a family history remarkable for an unusual inheritance pattern for EDV.

Propranolol treatment of infantile hemangiomas: anticipatory guidance for parents and caretakers.

Infantile hemangiomas (IH) are benign tumors of endothelial-like cells. Occurring in 4.5% of children, they are the most common tumor of childhood. The great majority of patients with IH will not need treatment, but 10% require systemic treatment. Many treatments have been described for the treatment of IH, but the Food and Drug Administration has not approved any. Over the last decade, numerous reports of successful treatment of IH with propranolol have been published. Despite its widespread use, little is known regarding the proper dosing, safety monitoring, and during of treatment or long-term outcomes for propranolol treatment of IH. Given its potential side effects, detailed education regarding proper administration of the medication as well as warning signs to watch for is necessary for parents and caretakers. Herein, we provide a parental handout that practitioners can individually tailor for use in their clinics when educating parents and caretakers about the use of propranolol for IH. Updates will also need to be made as more is learned regarding the optimal dosing and safety monitoring when using propranolol for this indication.

A review of next-generation genetic testing for the dermatologist.

Dermatologists have been placed in a prime position to make new genetic discoveries. Tissue is easily obtained from the skin or mucosa for the study of germline and somatic mosaic disorders. This, along with the recent development of next-generation sequencing, makes dermatology an exciting field with essentially endless possibilities for discovering genes responsible for disease, better understanding complex molecular pathways, and eventually developing targeted therapies. To take advantage of this great opportunity, a basic understanding of the advances in genetic testing is vital. Herein we give an overview of next-generation sequencing, including some of the applications it may be used for. We also review various study designs for genetic discovery, each of their benefits and downfalls, and how they may be applied to the study of dermatologic disease.

Initiation and use of propranolol for infantile hemangioma: report of a consensus conference.

Infantile hemangiomas (IHs) are common neoplasms composed of proliferating endothelial-like cells. Despite the relative frequency of IH and the potential severity of complications, there are currently no uniform guidelines for treatment. Although propranolol has rapidly been adopted, there is significant uncertainty and divergence of opinion regarding safety monitoring, dose escalation, and its use in PHACE syndrome (PHACE = posterior fossa, hemangioma, arterial lesions, cardiac abnormalities, eye abnormalities; a cutaneous neurovascular syndrome characterized by large, segmental hemangiomas of the head and neck along with congenital anomalies of the brain, heart, eyes and/or chest wall). A consensus conference was held on December 9, 2011. The multidisciplinary team reviewed existing data on the pharmacologic properties of propranolol and all published reports pertaining to the use of propranolol in pediatric patients. Workgroups were assigned specific topics to propose protocols on the following subjects: contraindications, special populations, pretreatment evaluation, dose escalation, and monitoring. Consensus protocols were recorded during the meeting and refined after the meeting. When appropriate, protocol clarifications and revision were made and agreed upon by the group via teleconference. Because of the absence of high-quality clinical research data, evidence-based recommendations are not possible at present. However, the team agreed on a number of recommendations that arose from a review of existing evidence, including when to treat complicated IH; contraindications and pretreatment evaluation protocols; propranolol use in PHACE syndrome; formulation, target dose, and frequency of propranolol; initiation of propranolol in infants; cardiovascular monitoring; ongoing monitoring; and prevention of hypoglycemia. Where there was considerable controversy, the more conservative approach was selected. We acknowledge that the recommendations are conservative in nature and anticipate that they will be revised as more data are made available.

A significant proportion of children with morphea en coup de sabre and Parry-Romberg syndrome have neuroimaging findings.

En coup de sabre (ECDS) and Parry-Romberg syndrome (PRS) are variants of linear morphea on the head and neck that can be associated with neurologic manifestations. Intracranial abnormalities on computed tomography (CT) and magnetic resonance imaging (MRI) are present in a significant proportion of individuals with these conditions. We describe 32 children from our institution with ECDS or PRS; neuroimaging was performed in 21 cases. We also review 51 additional cases from the literature. Nineteen percent of the children at our institution with ECDS or PRS had intracranial abnormalities on MRI, half of whom were asymptomatic. Hyperintensities on T2-weighted sequences were the most common finding, present in all children with intracranial abnormalities on MRI. Seizures (13%) and headaches (9%) were the most common neurologic symptom. Neurologic symptoms were not correlated with neuroimaging abnormalities, with two asymptomatic children having marked MRI findings and only two of nine symptomatic children having an abnormal MRI. Similarly the severity of the superficial disease did not predict neurologic involvement; a child with subtle skin involvement had striking MRI findings and seizures, whereas another with a bony defect had no brain parenchymal involvement. Neurologic symptoms and neuroimaging abnormalities are found in a surprisingly substantial percentage of children with ECDS and PRS. Early recognition of neurologic involvement is necessary because it affects treatment choices. Because clinical predictors of intracranial abnormalities are poor, strong consideration should be given to obtaining an MRI before treatment initiation to assist in management decisions and establish a baseline examination.

Nutrition and the deleterious side effects of nutritional supplements.

The potential adverse effects associated with some of the more common oral vitamin supplements--vitamins A, D, and E and niacin (forms include nicotinic acid and nicotinamide), and mineral supplements--zinc, copper, and iron, used in dermatology are manifold. Although the dermatologist may be familiar with adverse effects of vitamins A and D, less well-known adverse effects, such as hematologic and neurologic effects from zinc, are presented.

Naive tumor-specific CD4(+) T cells differentiated in vivo eradicate established melanoma.

In vitro differentiated CD8(+) T cells have been the primary focus of immunotherapy of cancer with little focus on CD4(+) T cells. Immunotherapy involving in vitro differentiated T cells given after lymphodepleting regimens significantly augments antitumor immunity in animals and human patients with cancer. However, the mechanisms by which lymphopenia augments adoptive cell therapy and the means of properly differentiating T cells in vitro are still emerging. We demonstrate that naive tumor/self-specific CD4(+) T cells naturally differentiated into T helper type 1 cytotoxic T cells in vivo and caused the regression of established tumors and depigmentation in lymphopenic hosts. Therapy was independent of vaccination, exogenous cytokine support, CD8(+), B, natural killer (NK), and NKT cells. Proper activation of CD4(+) T cells in vivo was important for tumor clearance, as naive tumor-specific CD4(+) T cells could not completely treat tumor in lymphopenic common gamma chain (gamma(c))-deficient hosts. gamma(c) signaling in the tumor-bearing host was important for survival and proper differentiation of adoptively transferred tumor-specific CD4(+) T cells. Thus, these data provide a platform for designing immunotherapies that incorporate tumor/self-reactive CD4(+) T cells.