A Case of a Rare Histologic Variant: Cavernous Hemangioma-Like Kaposi Sarcoma.

ABSTRACT: Kaposi sarcoma (KS) is an endothelial tumor associated with human herpesvirus 8. Cutaneous lesions can present with pink or purple patches, plaques, and nodules which can be ulcerated. The main subtypes of KS generally have similar histologic appearances, with spindle cells and expression of human herpesvirus 8 being characteristic features. However, various histologic variants have been reported. We present the case of a 55-year-old man with cutaneous KS with cavernous hemangioma-like histological features. Cavernous hemangioma-like KS is a rare morphologic type of KS, with only a handful of cases reported in the literature.

Cutaneous collagenous vasculopathy in a pediatric patient.

We report the case of a 13-year-old female who presented with punctate, erythematous macules coalescing into patches on the upper extremities and left thigh. A skin biopsy demonstrated dilated capillary-sized blood vessels in the papillary dermis consistent with a diagnosis of cutaneous collagenous vasculopathy (CCV). To our knowledge, this is the youngest patient to present with CCV and will represent the third pediatric case in the literature.

Superimposed linear atopic dermatitis treated with dupilumab.

Common polygenic skin disorders, such as atopic dermatitis, may rarely present in a segmental or linear distribution due to cutaneous mosaicism. Only seven cases of superimposed linear atopic dermatitis have been reported to date. Here, we present a child with severe superimposed linear atopic dermatitis and highlight the first successful use of dupilumab in its treatment.

Cutaneous Rosai-Dorfman Disease.

A 48-year-old Hispanic man presented with a nodule on the right cheek. The lesion had started as a papule 4 months previously that had slowly enlarged and then plateaued at its present size. The nodule was asymptomatic, and the patient denied bleeding, draining, or preceding trauma. Review of systems was negative for fevers, weight loss, night sweats, lymphadenopathy, or other skin findings. Past medical history was significant only for type 2 diabetes mellitus, hyperlipidemia, and hypertension.

Primary cutaneous CD4-positive small/medium-sized pleomorphic T-cell lymphoproliferative disorder: Report of a case and review of the literature.

Primary cutaneous small/medium-sized T-cell lymphoma (PCSM-TCL), which was included in the World Health Organization - European Organization for Research and Treatment of Cancer (WHO-EORTC) classification for cutaneous lymphomas as a provisional entity in 2008, has recently been reclassified as primary cutaneous small/medium-sized T-cell lymphoproliferative disorder (PCSM-TCLPD) because of its indolent behavior and uncertain malignant potential. Treatment with local therapies is usually curative, although there have been reports of aggressive, systemic disease. This spectrum of disease behavior evokes the consideration that this entity may actually be multiple diseases with a shared clinicopathologic features rather than a singular disease process with a variety of behaviors. PCSM-TCLPD retained its designation as a provisional entity under the updated WHO-EORTC guidelines; however, additional cases of PCSM-TCLPD are needed to shed more light on this rare disorder.

Neurotoxins: Expanding Uses of Neuromodulators in Medicine--Major Depressive Disorder.

BACKGROUND: Botulinum toxin A (BTA) is one of the most diversely used medications of the 21st century and is now being researched as a treatment for major depressive disorder (MDD). METHODS: The authors performed a literature search of PubMed, Web of Science, and the Cochrane Register of Controlled Trials. The primary investigators of the studies were contacted for additional unpublished data. RESULTS: The authors identified 5 studies that met the criteria of using BTA in the treatment of MDD. All studies showed significant reduction in depressive symptoms with BTA injected into the glabellar muscles. In a pooled analysis, botulinum toxin (n=59) vs placebo (n=75) had a -47% vs -16% reduction in self-rated depression scores (P<0.0001) and a -46% vs -15% reduction in expert-rated depression scores (P<0.0001), respectively. Adverse reactions were mild (temporary headaches and local irritation immediately after injection) and did not differ between active group (13.6%) and placebo group (9.3%) (P=0.44). CONCLUSIONS: Botulinum toxin injections in the glabellar frown muscles have been associated with a significant improvement in depressive symptoms. Given the prevalence of MDD, the promising results of preliminary trials, and the excellent tolerability of this treatment intervention, larger studies are warranted.

Skin Biopsy, the Allergists' Tool: How to Interpret a Report.

Inflammatory dermatoses are frequently encountered by the allergist, and histologic evaluation achieved through skin biopsy can be of tremendous value clinically. There is no substitute for a thorough history and physical exam; however, the skin biopsy is a simple, in-office procedure with little risk of complication that can provide invaluable information when a diagnosis is uncertain. Histopathologically, many inflammatory eruptions can look similar or overlap, but information provided by the dermatopathologist can help the clinician render or refine the clinical diagnosis and guide management. This review will discuss descriptive elements contained in the pathology report to provide a framework that can be used by the allergist to comfortably and confidently diagnose inflammatory dermatologic conditions.

Keloids and non-diabetic kidney disease: similarities and the APOL1-MYH9 haplotype as a possible genetic link.

Keloids and non-diabetic kidney disease are both fibrotic processes that disproportionately affect persons of African descent. Despite similarities in these conditions, the authors identified no studies to date investigating a shared genetic etiology. MYH9 and APOL1 are in linkage disequilibrium and have both been associated with non-diabetic kidney disease. MYH9 codes for a non-muscle myosin that is involved in cell adhesion and locomotion and is known to be overexpressed in keloids. Variations in APOL1 confer resistance to subspecies of Trypanosoma brucei, which may explain why otherwise deleterious genetic alterations in this haplotype could have gained prominence. We feel that the pathophysiological and epidemiological overlap between keloids and non-diabetic kidney disease support a common genetic origin and further investigation into keloids and the MYH9-APOL1 haplotype and keloids is warranted. Furthermore, we feel this haplotype might offer insight into thrombosis, stroke and other conditions that disproportionately affect persons of African descent.

Translation initiator EIF4G1 mutations in familial Parkinson disease.

Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has implicated a locus on chromosomal region 3q26-q28. Linkage and disease segregation is explained by a missense mutation c.3614G>A (p.Arg1205His) in eukaryotic translation initiation factor 4-gamma (EIF4G1). Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects. Despite different countries of origin, persons with EIF4G1 c.1505C>T (p.Ala502Val) or c.3614G>A (p.Arg1205His) mutations appear to share haplotypes consistent with ancestral founders. eIF4G1 p.Ala502Val and p.Arg1205His disrupt eIF4E or eIF3e binding, although the wild-type protein does not, and render mutant cells more vulnerable to reactive oxidative species. EIF4G1 mutations implicate mRNA translation initiation in familial parkinsonism and highlight a convergent pathway for monogenic, toxin and perhaps virally-induced Parkinson disease.

LINGO1 rs9652490 is associated with essential tremor and Parkinson disease.

Recently, a variant in LINGO1 (rs9652490) was found to associate with increased risk of essential tremor. We set out to replicate this association in an independent case-control series of essential tremor from North America. In addition, given the clinical and pathological overlap between essential tremor and Parkinson disease, we also evaluate the effect of LINGO1 rs9652490 in two case-control series of Parkinson disease. Our study demonstrates a significant association between LINGO1 rs9652490 and essential tremor (P = 0.014) and Parkinson disease (P = 0.0003), thus providing the first evidence of a genetic link between both diseases.

Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor.

A functional variant in the Histamine N-Methyltransferase gene (HNMT - rs11558538) resulting in a threonine to isoleucine substitution (Thr105Ile) has been shown to impair histamine degradation. Two recent studies reported that the threonine allele of this polymorphism might be a risk factor for Parkinson disease (PD) and essential tremor (ET) development. Although PD and ET are considered different entities, they share some clinical and pathological features, suggesting a possible joint etiology. In this study we assess the role of the Thr105Ile variant in PD and ET development, genotyping the variant in a North American Caucasian PD and ET case-control series. Statistical analysis did not identify any significant association between this variant and PD or ET; therefore, our findings do not support the HNMT Thr105Ile variant as a factor in disease development or a genetic link between the disorders.

DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease.

Variants in the dopamine receptor D3 (DRD3) and HCLS1 binding protein 3 (HS1BP3) have been nominated as risk factors for essential tremor (ET). Although ET and Parkinson disease (PD) are considered different entities, they have many overlapping clinical and pathological features. We aim to evaluate the role of the Ser9Gly variant in DRD3 and Ala265Gly in HS1BP3 in PD development. To this end, we genotyped these two variants in a PD matched case-control series from the United States. Statistical analysis failed to identify significant differences in the frequency of these variants between the case and control groups; therefore our results do not support a role for these DRD3 and HS1BP3 variants in PD.