Superficial solitary fibrous tumor masquerading as a dermoid cyst: a case report.

Background: Solitary fibrous tumors (SFTs) are relatively rare spindle cell neoplasms uncommonly seen in dermatology practice. Initially discovered as a pleural tumor, SFTs have also been found in extra-pleural sites including the skin and soft tissues. When arising within the dermis or subcutis they are termed superficial SFTs, where they often present as solitary, unilateral, slow growing superficial masses. Histologically, they are composed of spindle cells arranged in a "patternless" pattern with hemangiopericytoma-like vessels dispersed throughout. Historically, CD34, CD99 and Bcl-2 immunohistochemical (IHC) stains were used to differentiate SFTs from other spindle cell neoplasms, however these markers are not entirely specific. Recent discovery of a disease defining NGFI-A binding protein 2 (NAB2)-signal transducer and activator of transcription 6 (STAT6) fusion gene has led to the use of STAT6 IHC staining to help verify the diagnosis of SFTs, particularly in unexpected sites. Case Description: We report a case of a 23-year-old woman with a slowly growing lateral supra-orbital mass, clinically concerning for a dermoid cyst, which was subsequently discovered to be a SFT on pathologic examination, with the diagnosis being verified by STAT6 immunostaining. Conclusions: SFTs are rarely encountered in dermatologic practice, however, must be kept on the differential of subcutaneous nodules, including those occurring in young adults. Due to the rarity of these tumors in clinical practice, a proposed algorithm for the approach to management of SFTs is included, guided by a validated, histology-driven, metastatic risk assessment tool, to help guide other clinicians confronted by these tumors.

Impaired calcium signalling and neuropsychiatric disorders in Darier disease: An exploratory review.

Darier (Darier-White) disease (DD) is an autosomal dominant skin disorder caused by pathogenic mutations in the ATP2A2 gene which encodes a calcium ATPase in the sarco-endoplasmic reticulum (SERCA2). Defects in the SERCA2 protein lead to an impairment of cellular calcium homeostasis, which in turn, triggers cell death pathways. There is a high prevalence of neuropsychiatric disorders in patients affected by this condition, namely intellectual disability, bipolar disorder, schizophrenia, and suicidality. Though these associations have been well-documented over the years, little has been discussed or investigated regarding the pathophysiological mechanisms. The goal of this article is to review the literature related to the most commonly associated neuropsychiatric disorders found in patients with DD, highlight the pathophysiological mechanisms underlying each condition, and examine potential interventions that may be of interest for future development. A literature search was performed using PubMed to access and review relevant articles published in the last 40 years. Keywords searched included Darier disease neuropsychiatric, Darier disease pathophysiology, SERCA2 central nervous system, SERCA 2 skin, ATP2A2 central nervous system, ATP2A2 skin, sphingosine-1-phosphate signalling skin, sphingosine-1-phosphate signalling central nervous system, P2X7 receptor skin, and P2X7 receptor central nervous system. Our search resulted in 2692 articles, of which 61 articles were ultimately included in this review.

The eyes have it: when skin findings prompt referral to ophthalmology.

PURPOSE OF REVIEW: Co-presentation of ocular and cutaneous conditions is common and prompt recognition of known associations may be imperative to sight-saving intervention. There are currently limited reviews in the pediatric literature addressing comorbid ocular and dermatologic presentations. Recent diagnostic and therapeutic advances have drastically altered the prognostic landscape for several disease states when recognition and referral are timely. The aim of this report is to examine important oculocutaneous disease associations with emphasis on management of ocular complications and appropriate referral practices to ophthalmology specialists. RECENT FINDINGS: Oculocutaneous associations can be broadly classified into four etiologic categories: infectious, inflammatory, genetic, and medication/nutrition induced pathology. Several conditions in all four categories have had recent advances in their etiologic understanding, diagnostic evaluation, and therapeutic approach. Thematically, these advances highlight increasing disease prevalence of certain conditions, previously unrecognized pediatric relevance of others, updated diagnostic criteria, and newer categories of iatrogenic illness induced by advances in medical therapy. SUMMARY: This review is designed to provide the pediatric practitioner a vignette-based high-level overview of both common and sight threatening associations that should prompt consideration for ophthalmology consultation. Conditions were selected based on relevance, relative urgency, and recent advances in their etiologic/therapeutic understanding.

Endovascular radiofrequency obliteration using 90 degrees C for treatment of great saphenous vein.

The recommended treatment temperature for endovascular radiofrequency obliteration (RFO) of the great saphenous vein (GSV) is 85 degrees C. Faster catheter pullback rates are possible when the operating catheter tip temperature is increased. We studied the safety and effectiveness of RFO of the GSV using a temperature of 90 degrees C, tumescent infiltration, and catheter pullback rates double the current standard. Sixty-eight patients (85 limbs) with ultrasound-documented saphenofemoral valve reflux underwent Closure procedure. Treatment temperature was increased to 90 degrees C, and pullback times were increased to 5-6 cm/min. Outcome measures were occlusion of treated vein segments at 3 days and 6 months postoperatively and clinical evaluation of complications at 3 days and 6 months postoperatively. At 3 days, 96% (80/83) of GSVs were occluded and at 6 months 90% (66/73) were occluded. At 3 days and 6 months, no limbs had evidence of deep venous thrombosis or skin burns. Pullback times were shortened from 15-18 min to 8 min. Closure procedure of the GSV using 90 degrees C and faster catheter pullback rates occluded a refluxing GSV with similar 3-day and 6-month occlusion rates as 85 degrees C.