Antiphospholipid syndrome (APS) is an acquired thrombophilic disorder related to the presence of antiphospholipid antibodies (LAC, anticardiolipin, anti Beta2-glycoprotein) known to cause venous and ...arterial thrombosis and recurrent pregnancy loss. Skin disorder is a frequent finding usually due to vascular thrombosis involving the dermal layer and can be either localized or widespread causing necrosis and ulceration of the skin, without histological evidence of vasculitis. We present a case of a woman with APS with both arterial and venous thrombotic involvement associated with an atypical dermatological manifestation histologically consistent with a pauci-inflammatory intermediate-deep dermal arteriolar platelet–mediated thrombosis that appeared despite anticoagulation with warfarin and responding to the addition of antiplatelet therapy.
Adult onset Still’s disease (AOSD) is a systemic inflammatory disorder of unknown etiology and pathogenesis characterized by high spiking fever, arthralgia or arthritis, sore throat, lymphadenopathy, ...hepatosplenomegaly, serositis, and transient cutaneous manifestations. Although more common in children, cases are seen also in adults. Cutaneous involvement is common and may be suggestive for the diagnosis. A case of AOSD in a 35-year-old man is reported here, presenting with urticarial maculopapular rash of trunk, high spiking fever, acute respiratory distress syndrome, and myopericarditis. Skin biopsy showed interstitial and perivascular mature CD15
+
neutrophils. A comprehensive review of literature showed that cutaneous involvement occurs in about 80 % of patients, with various clinical presentations. The most common skin manifestation is an evanescent salmon pink or erythematous maculopapular exanthema, predominantly on the trunk and proximal limbs, with rare involvement of face and distal limbs. Less common manifestations include persistent erythematous plaques and pustular lesions. A constant histopathologic finding is the presence of interstitial dermal neutrophils aligned between the collagen bundles. This pattern may provide an easy accessible clue for the definitive diagnosis of AOSD and exclude other diagnosis such as drug eruptions or infectious diseases.
A 71-year-old woman presented with a persistent, intensely pruritic cutaneous eruption localized on the palmoplantar regions, lips and palate. The histological findings allowed to make the diagnosis ...of recurrent cutaneous eosinophilic vasculitis, a very rare cutaneous vasculitis characterized clinically by multiple erythematous or purpuric erythematous papules or plaques or angioedema with a relapsing course in the absence of systemic involvement and histologically by a necrotizing vasculitis of the dermal small vessels with a dominant eosinophilic infiltration. The patient was treated with oral methylprednisolone and pentoxifylline which led to a rapid resolution of the cutaneous lesions.
Background:
Primary cutaneous CD4+ small/medium T-cell lymphoproliferative disorder (CD4+ PCSM-LPD) is defined by a predominance of small- to medium-sized CD4+ pleomorphic T cells and a favorable ...clinical course.
Objective:
We performed a retrospective analysis of 6 patients with CD4+ PCSM-LPD and reviewed the literature to address questions about its diagnosis, treatment, and prognosis.
Methods:
Patients were 3 men and 3 women with a median age of 50 years. All patients presented with a single erythematous nodule, localised on the head in 4 patients and the upper trunk in 2 cases. No patients showed extracutaneous disease at any evaluation. Histopathologic features were characterised by nodular, diffuse, or, in 1 case, a superficial dense infiltrate of small/medium-sized pleomorphic CD4+/PD1+ T lymphocytes. T-cell receptor clonality was demonstrated in 5 cases. Treatment was surgical excision in 5 cases and radiotherapy in 1 case.
Results:
All patients achieved complete resolution without relapses, during a median follow-up of 3 years. A review of the literature confirmed that CD4+ PCSM-LPD presents predominantly with a solitary nodular lesion on the face, neck, or upper trunk in adult patients. Surgical excision is the preferred treatment. Spontaneous resolution after biopsy may occur.
Conclusions:
CD4+ PCSM-LPD is a rare disorder with a favorable course.
The expression of programmed death-ligand 1 (PD-L1) is an established prerequisite for the administration of checkpoint inhibitor therapy and is of prognostic value in several cancer types. Data ...concerning the potential effect of PD-L1 on the prognosis of thyroid carcinoma are limited. Therefore, this study aimed to provide a systematic review of the published data on this topic. The literature was reviewed to gather and quantify evidence on the prognostic role of PD-L1 in follicular epithelial derived thyroid carcinomas and determine its association with clinicopathological parameters. A meta-analysis was performed using the DerSimonian-Laird random-effects model. The quality of studies was evaluated with the Newcastle-Ottawa Scale and a modified GRADE approach used to rate the quality of evidence. Out of 445 papers, 18 were included and 15 provided adequate data for meta-analysis. The quality of evidence ranged from low to high. PD-L1 expression was significantly associated with a reduced disease-free survival (DFS) (RR 1.63, CI 1.04–2.56,
p
= 0.03, I
2
68%, τ
2
0.19 and HR 1.90, CI 1.33–2.70,
p
< 0.001, I
2
0%, τ
2
0.00); however, no association was found with the overall survival (OS). Furthermore, a significant association was found with respect to underlying chronic lymphocytic thyroiditis and
BRAFV600E
mutation status in papillary thyroid carcinomas. In the subgroup analysis, the association of PD-L1 and DFS remained strong in papillary thyroid carcinoma when compared with dedifferentiated thyroid carcinomas (anaplastic and poorly differentiated thyroid carcinomas) that failed to demonstrate a significant association with respect to PD-L1. These findings underscore the role of PD-L1 immunohistochemistry as a potential prognostic biomarker of disease recurrence in patients with papillary thyroid carcinoma.
Sickle cell disease is an autosomal recessive genetic red cell disorder with a worldwide distribution. Growing evidence suggests a possible involvement of complement activation in the severity of ...clinical complications of sickle cell disease. In this study we found activation of the alternative complement pathway with microvascular deposition of C5b-9 on skin biopsies from patients with sickle cell disease. There was also deposition of C3b on sickle red cell membranes, which is promoted locally by the exposure of phosphatidylserine. In addition, we showed for the first time a peculiar "stop-and-go" motion of sickle cell red blood cells on tumor factor-α-activated vascular endothelial surfaces. Using the C3b/iC3b binding plasma protein factor Has an inhibitor of C3b cell-cell interactions, we found that factor H and its domains 19-20 prevent the adhesion of sickle red cells to the endothelium, normalizing speed transition times of red cells. We documented that factor H acts by preventing the adhesion of sickle red cells to P-selectin and/or the Mac-1 receptor (CD11b/CD18), supporting the activation of the alternative pathway of complement as an additional mechanism in the pathogenesis of acute sickle cell related vaso-occlusive crises. Our data provide a rationale for further investigation of the potential contribution of factor H and other modulators of the alternative complement pathway with potential implications for the treatment of sickle cell disease.
Follicular-derived differentiated thyroid carcinoma (DTC) is the most common endocrine and epithelial malignancy in children. The differences in the clinical and pathological features of pediatric ...vs. adult DTC could relate to a different genetic profile. Few studies are currently available in this issue, however, and most of them involved a limited number of patients and focused mainly on radiation-exposed populations.
We considered 59 pediatric patients who underwent surgery for DTC between 2000 and 2017.
rearrangement was investigated with fluorescent
hybridization and real-time polymerase chain reaction. Sequencing was used to analyze mutations in the
genes, and the
promoter. The pediatric patients' clinical and molecular features were compared with those of 178 adult patients.
In our pediatric sample, male gender and age <15 years coincided with more extensive disease and more frequent lymph node and distant metastases. Compared with adults, the pediatric patients were more likely to have lymph node and distant metastasis, and to need second treatments (
< 0.01). In all, 44% of the pediatric patients were found to carry molecular alterations.
rearrangement was confirmed as the most frequent genetic alteration in childhood DTC (24.6%) and correlated with aggressive features.
was only identified in 16% of the pediatric DTCs, while NRASQ61R, NRASQ61K, and TERTC250T mutations were very rare.
Pediatric DTC is more aggressive at diagnosis and more likely to recur than its adult counterpart. Unlike the adult disease, point mutations have no key genetic role.
Annually recurring erythema annulare centrifugum (AR-EAC) is a rare variant, characterized by typical annular plaques recurring in the same period of the year. We describe 5 new cases and present a ...review of the literature. Patients were 3 females and 2 males with an age range of 25–55 years. Multiple annular plaques were located at the thighs in 4 patients and the neck in one patient. In 1 patient, a single lesion was present. Plaques were recurring in summer in 3 cases; in 1 case, in spring; and another patient, in winter since 3–4 years. Lesions were self-healing in few days or weeks. Histologically, the epidermis presented mild acanthosis with patchy spongiosis, slight parakeratosis, and mild exocytosis. There was a perivascular lympho-histiocytic infiltrate of variable intensity in the superficial dermis, with occasional eosinophils. In 1 case, the inflammatory infiltrate reached the deep dermis. Mucin deposition was absent. Phenotyping studies in 1 case revealed a predominance of T cells, with a small B-cell component. Moreover, a moderate number of CD123 + plasmacytoid dendritic cells and CD1a + dendritic cells were noted. Fourteen cases of AR-EAC have been published previously. Collectively, patients’ age ranged from 16 to 83 years, with a mean age of 47 years and a disease duration of 1–30 years. Lesions affected more frequently extremities and recurred most commonly in summer. Patients were all in good general health. Topical corticosteroids were the mainstay of treatment. AR-EAC is a benign disorder, the nature of which remains enigmatic.
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