No abstract

Harlequin ichthyosis (HI) is a rare and severe form of congenital ichthyosis. Linked to deletion and truncation mutations of a keratinocyte lipid transporter, HI is characterized by diffuse epidermal hyperkeratinization and defective desquamation. At birth, the HI phenotype is striking with thick hyperkeratotic plate-like scales with deep dermal fissures, severe ectropion and eclabium, among other findings. Over the first months of life, the hyperkeratotic covering is shed, revealing a diffusely erythematous, scaly epidermis, which persists for the remainder of the patient's life. Although HI infants have historically succumbed in the perinatal period related to their profound epidermal compromise, the prognosis of HI infants has vastly improved over the past 20 years. Here, we report a case of HI treated with acitretin, focusing on the multi-faceted management of the disease in the inpatient setting. A review of the literature of the management of HI during the perinatal period is also presented.

For over fifty years, the pathogenesis of May-Thurner syndrome (MTS) has been associated with chronic left common iliac vein compression resulting in the formation of intraluminal, permanent obstructive lesions. However, despite this association, the mechanism by which compression produces these lesions is unknown. Diagnostic accuracy of MTS is critical since it often afflicts young patients requiring endovascular management. This review will focus on the historical, embryological and evolutionary description of MTS and examine its development, diagnosis, clinical management and potential diagnostic errors.

No abstract

Diseases of the cerebral vasculature represent a heterogeneous group of ischemic and hemorrhagic etiologies, which often manifest clinically as an acute neurologic deficit also known as stroke or less commonly with symptoms such as headache or seizures. Stroke is the fourth leading cause of death and is a leading cause of serious long-term disability in the United States. Eighty-seven percent of strokes are ischemic, 10% are due to intracerebral hemorrhage, and 3% are secondary to subarachnoid hemorrhage. The past two decades have seen significant developments in the screening, diagnosis, and treatment of ischemic and hemorrhagic causes of stroke with advancements in CT and MRI technology and novel treatment devices and techniques. Multiple different imaging modalities can be used in the evaluation of cerebrovascular disease. The different imaging modalities all have their own niches and their own advantages and disadvantages in the evaluation of cerebrovascular disease. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.