No abstract

Vascular anomalies are variably associated with overgrowth, skeletal anomalies, and abnormalities of the brain, leptomeninges, and eye. We assembled a 16-institution network to determine the range of genetic variants associated with a spectrum of vascular anomalies with overgrowth, ranging from mild to severe. Because of the overlap between cancer-associated variants and previously described somatic variants in vascular overgrowth syndromes, we employed tumor genetic profiling via high-depth next-generation sequencing using a panel to assay affected tissue from a diverse cohort of subjects with vascular anomalies with overgrowth. Seventy-five percent (43/57) harbored pathogenic or likely pathogenic variants in 10 genes. We identified two genes (mTOR, PIK3R1) and several variants previously described in the setting of cancer but that, to our knowledge, have not been described in vascular malformations. All were identified at low variant allele frequency consistent with somatic mosaic etiology. By leveraging somatic variant detection technology typically applied to cancer in a cohort inclusive of broad phenotypic severity, we demonstrated that most vascular anomalies with overgrowth harbor postzygotic gain-of-function mutations in oncogenes. Furthermore, continued interrogation of oncogenes in benign developmental disorders could provide insight into fundamental mechanisms regulating cell growth.

Knowledge of the lexicon of spinal cord injury without radiographic abnormality, the spectrum of MRI findings, and imaging predictors of outcome can help render a precise imaging diagnosis and can provide evidence-based prognostic information.

No abstract

Papular‐purpuric “gloves and socks” syndrome (PPGSS) is a unique, self‐limited dermatosis characterized by edema, erythema, and pruritic petechiae and papules in a distinct “gloves and socks” distribution. This is often accompanied by systemic symptoms, including fever, lymphadenopathy, asthenia, myalgia, and arthralgias. PPGSS has also been described as a manifestation of an underlying immunological mechanism that can be triggered by viral or drug‐related antigens. A 32‐year‐old male developed a painful eruption on the bilateral hands and feet after being diagnosed with influenza B. On examination, scattered papular purpura with occasional overlying scale was noted on the bilateral hands, fingers, feet, toes, volar wrists, and ankles. Histopathologic sections showed a mixed pattern of inflammation with interface and spongiotic changes. A parakeratotic scale with overlying basket‐weave orthokeratosis was also seen. Within the epidermis, there was intraepidermal vesicles and Langerhans cell microabscess formation with scattered apoptotic keratinocytes. The underlying dermis showed a superficial perivascular lymphocytic infiltrate with mild edematous changes, and extravasation of red blood cells. Clinicopathologic correlation strongly supported a diagnosis of popular‐purpuric gloves and socks syndrome. The influenza virus has never been reported in association with PPGSS; thus, this case outlines an important new variant that clinicians should be familiar with.