Search

Background Panniculitis occurring in dermatomyositis is uncommon, with only a few cases described in the literature, most of them as case reports. Objective This report describes the clinicopathological and immunohistochemical findings in a series of 18 patients with panniculitis associated with dermatomyositis. Methods In each patient, we collected the clinical data of the cutaneous lesions as well as the characteristic clinical and laboratory findings. A series of histopathologic findings was recorded in the biopsy of each patient. A panel of antibodies was used in some cases to investigate the immunophenotype of the infiltrate. Data of treatment and follow-up were also collected. Results Of the 18 patients, 13 were female and 5 were male, ranging in age from 13 to 74 years (median, 46.4 years). In addition to panniculitis, all patients presented pathognomonic cutaneous findings of DM and reported proximal muscle weakness prior to the diagnosis of panniculitis. Muscle biopsy was performed in 17 patients and MRI in one, all with the diagnosis of inflammatory myopathy. None of the patients presented any associated neoplasia. Panniculitis lesions were located in the upper or lower limbs. Histopathology showed a mostly lobular panniculitis with lymphocytes as the main component of the infiltrate. Most cases showed also numerous plasma cells and lymphocytes surrounding necrotic adipocytes (rimming) were frequently seen. Lymphocytic vasculitis and abundant mucin interstitially deposited between collagen bundles of the dermis were also frequent findings. Late-stage lesions showed hyaline necrosis of the fat lobule and calcification. Immunohistochemistry demonstrated that most lymphocytes of the infiltrate were T-helper lymphocytes, with some B lymphocytes in the lymphoid aggregates and small clusters of CD-123-positive plasmacytoid dendritic cells in the involved fat lobule. Conclusion Panniculitis in dermatomyositis is rare. Histopathologic findings of panniculitis dermatomyositis are identical to those of lupus panniculitis. Therefore, the final diagnosis requires clinic-pathologic correlation. [ABSTRACT FROM AUTHOR]

Background Human parvovirus B19 (B19V) has been associated with a number of dermatological and systemic conditions, including myocarditis and autoimmune syndromes. Objectives To determine the frequency of B19V DNA detection in a large dermatopathology practice, and to characterize the histopathological patterns involved. Methods We selected for polymerase chain reaction ( PCR) detection of B19V a total of 1815 skin biopsies pertaining to entities allegedly related to B19V, as well as cases suspected clinically of representing paraviral exanthemas. Immunohistochemical detection of B19V viral protein 2 ( VP2) was performed in 92 PCR-positive cases. Results B19V DNA was found by PCR in 402 out of 1825 biopsy specimens (22%). VP2 protein was identified by immunohistochemistry in only three instances of papular purpuric 'gloves-and-socks' syndrome. Conclusions As the virus has the capacity to persist in different tissues (including the skin) for long periods, it could represent merely an innocent bystander, so no pathogenetic significance can be inferred from the PCR positivity for B19V in the vast majority of dermatological conditions studied. [ABSTRACT FROM AUTHOR]

Cutaneous graft-versus-host disease ( GVHD) is a frequent complication of allogeneic bone marrow transplant and haematopoietic cell transplantation, but it is rarely presented as a Wolf's isotopic response. We report a patient who developed chronic lichenoid GVHD following the dermatomes previously affected by varicella zoster virus ( VZV) infection. Nineteen months later, the same patient suffered from reactivation of GVHD at the injection site of an influenza vaccination. We review the literature concerning GVHD appearing after VZV infection and discuss the possible implications of this case and the pathogenic hypotheses. [ABSTRACT FROM AUTHOR]

A 56-year-old male patient had a history of mantle-cell lymphoma, which was treated with polychemotherapy and reduced-intensity conditioning allogeneic haematopoietic stem cell transplantation (ASCT) from his healthy sister with an identical human leucocyte antigen profile. Six years after transplantation, the patient developed asymptomatic eczema-like cutaneous lesions. Histologically the lesions contained a dense superficial lichenoid infiltrate, mainly consisting of CD4+ atypical medium to large lymphocytes showing indented hyperchromatic nuclei. In situ hybridization for Epstein–Barr virus was negative. PCR amplification of the T-cell receptor-γ chain gene from several lesions revealed a monoclonal rearrangement without clonal variation. Two-colour fluorescence in situ hybridization (X and Y chromosomes) and microsatellite genotyping were used to compare samples from the patient (transplant recipient), his sister (donor) and the skin biopsy sample, which confirmed that the origin of the neoplastic cells was the donor graft. To our knowledge, this is the first case of post-transplant primary cutaneous T-cell lymphoproliferative disorder after ASCT. [ABSTRACT FROM AUTHOR]

A clinical correspondence article titled "Reticular and confluent intertriginous papules in a woman" describes the case of a woman in her sixties who presented with mildly pruritic skin lesions on the inter- and inframammary folds. The woman had no relevant medical history, and a skin biopsy confirmed a diagnosis of granular parakeratosis (GP). GP is a rare, benign skin condition characterized by erythematous to brown hyperkeratotic papules and plaques that primarily affect intertriginous sites. Treatment with a daily application of calcipotriol/betamethasone cream resulted in complete resolution of the lesions after 8 weeks. [Extracted from the article]

Follicular mucinosis ( FM) is an uncommon reaction pattern in which the accumulation of mucin in the follicular epithelium is the main pathologic finding. FM may be idiopathic (primary follicular mucinosis [ PFM]), in association with mycosis fungoides or cutaneous T-cell lymphoma, or in association with other neoplastic and inflammatory conditions. Herein we report a case of PFM with identical T-cell clone rearrangement at anatomically distinct sites, supporting the idea that some authors have proposed, that FM may represent a low-grade lymphoproliferative disease related to mycoses fungoides with favorable prognosis. [ABSTRACT FROM AUTHOR]

The article presents a study which aims to evaluate the immunohistochemical expression of cyclin-dependent kinase (CDK) complexes in the skin. Study shows that CDK2 has a major role played in cell proliferation as well as apoptosis. Further, it also provides the first evidence in a large series of patients involving the CDK2 in the pathogenesis.

This article presents a case study of a 75-year old man with no prior skin or atopic disease, presented with a 1-week history of purpuric papulonecrotic lesions in the lumbar region. 2 days before the onset. He had begun to apply Dalgen spray intermittently for muscle pain. Biopsies of the initial lesion and the patch test reaction to Dalgen showed a thrombotic vasculopathy with epidermal necrosis, without related leucocytoclastic vasculitis. In developed lesions, a lymphocytic perivascular infiltrate with eosinophils could be seen in the adjacent dermis.

Reports on the case of a 51-year-old man diagnosed with lipomatous polyposis of the colon. Medical history of increased frequency of defaecation, accompanied with rectorrhagia; Signs and symptoms; Presence of submucosal lipomas; Existence of multiple tubular adenomas.

Background: Acantholytic cutaneous squamous cell carcinomas (aCSCCs) have been classically considered as a high‐risk variant of CSCC. However, more recent studies show that aCSCC does not confer more aggressiveness. This study aims to establish whether the prognosis of the aCSCC is worse than that of the non‐acantholytic (naCSCC) or not. Methods: Retrospective case‐control study with 50 aCSCCs and 50 naCSCCs. For each aCSCC, an naCSCC with similar high‐risk features to the aCSCC but with no acantholysis was selected. Prognosis between both groups was compared. Results: The mean age was 86 years (SD 9.61). Sixty‐one patients were men. Thirty‐nine CSCCs were located in high‐risk head and neck areas. Twenty CSCCs exhibited a poor degree of differentiation, and 36 showed an infiltrative growth pattern. The tumor diameter was 18.71 mm (interquartile range, IQR 35), and the tumor thickness was 6.72 mm (IQR 15.50). Twelve CSCCs exhibited perineural infiltration, and eight CSCCs exhibited invasion beyond the subcutaneous fat. Positive margins after excision of the tumor in 22 aCSCCs vs eight naCSCCs (P < 0.02). Nineteen poor‐prognosis events were observed (local recurrence, lymph node metastasis, and death from CSCC). However, no differences were observed between both groups when comparing poor‐prognosis events. Conclusion: The proportion of unfavorable events is similar in aCSCC and naCSCC. The acantholytic histopathological subtype is not associated with a poorer prognosis than the non‐acantholytic CSCC in our cohort. [ABSTRACT FROM AUTHOR]

Background Risk stratification of cutaneous squamous cell carcinoma (cSCC) is essential for managing patients. Objectives To determine if artificial intelligence and machine learning might help to stratify patients with cSCC by risk using more than solely clinical and histopathological factors. Methods We retrieved a retrospective cohort of 104 patients whose cSCCs had been excised with clear margins. Clinical and histopathological risk factors were evaluated. Haematoxylin and eosin-stained slides were scanned and analysed by an algorithm based on the stacked predictive sparse decomposition technique. Cellular morphometric biomarkers (CMBs) were identified via machine learning and used to derive a cellular morphometric risk score (CMRS) that classified cSCCs into clusters of differential prognoses. Concordance analysis, sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and accuracy were calculated and compared with results obtained with the Brigham and Women's Hospital (BWH) staging system. The performance of the combination of the BWH staging system and the CMBs was also analysed. Results There were no differences among the CMRS groups in terms of clinical and histopathological risk factors and T-stage assignment, but there were significant differences in prognosis. Combining the CMRS with BWH staging systems increased distinctiveness and improved prognostic performance. C-indices were 0.91 local recurrence and 0.91 for nodal metastasis when combining the two approaches. The NPV was 94.41% and 96.00%, the PPV was 36.36% and 41.67%, and accuracy reached 86.75% and 89.16%, respectively, with the combined approach. Conclusions CMRS is helpful for cSCC risk stratification beyond classic clinical and histopathological risk features. Combining the information from the CMRS and the BWH staging system offers outstanding prognostic performance for patients with high-risk cSCC. [ABSTRACT FROM AUTHOR]

The article discusses ten cases of 'vasculitis-like' purpuric plaques with a necrotic center that appeared after follicular unit excision (FUE) hair transplantation surgery, a phenomenon not previously described in the literature. The patients, from five trichology and hair transplantation units in Spain, experienced lesions that clinically resembled leukocytoclastic vasculitis, but all resolved spontaneously within 14 days without complications. The histopathologic study ruled out vasculitis, suggesting that trauma to blood vessels during the FUE procedure or thermal damage may have caused the lesions. The authors emphasize the importance of accurate diagnosis by dermatologists to prevent unnecessary aggressive treatments for this benign and self-resolving condition. [Extracted from the article]

As chilblain-like lesions in COVID-19 patients are more frequent in children and young people,10 more acral lesions or chilblain-like lesions associated with SARS-CoV-2 vaccines could be reported when vaccinating young people. Lesions of all 3 patients presented a chilblain-like histology pattern. gl We report a case-series of three patients with new-onset acral lesions on hands after administration of mRNA-1273 SARS-CoV-2 vaccine. Given that, no other recognizable cause for the lesions was found, and all three patients had a recent history of vaccination with mRNA-1273 SARS-CoV-2 vaccine, this is the most likely possible cause of these lesions. [Extracted from the article]

Background: Pancreatic panniculitis is a rare form of panniculitis generally associated with acute or chronic pancreatitis, and less frequently with pancreatic carcinoma. Clinically, it presents with subcutaneous nodules usually located in the lower extremities, however, it presents an almost pathognomonic histopathological finding with enzymatic fat necrosis in the adipose tissue. Methods: In this retrospective case series of five hospitals, biopsy specimens of cutaneous lesions of pancreatic panniculitis were reviewed. Clinical information was obtained through medical records. Results: A total of 34 cases were included, 23 women and 11 men, aged between 31 and 92 years. The most common associated pancreatic disease was acute pancreatitis (23 cases) and its main triggering cause was gallstones (17 cases). In two patients it was related to chronic pancreatitis and six cases were associated with malignancy. Histopathological findings were always the key to diagnosis. In the biopsies reviewed, mostly lobular panniculitis with the characteristic necrosis of the adipocytes was observed. In addition, nine of the cases presented with Splendore–Hoeppli phenomenon. Conclusions: We present the largest series of pancreatic panniculitis. Clinically, the female predominance and biliary lithiasis as the main cause of acute pancreatitis are to be emphasized. Histopathologically, a peripheral eosinophilic striated rim surrounding aggregates of ghost adipocytes consistent with Splendore–Hoeppli is an additional clue to its diagnosis. [ABSTRACT FROM AUTHOR]

Https://doi.org/10.1093/ced/llac079 Dear Editor, We read with interest the paper published in I Clinical and Experimental Dermatology i by Kurihara I et al i . describing a patient with diffuse plane xanthoma arising from regressed tumours of folliculotropic mycosis fungoides (MF). PUVA might have accelerated galectin-7 expression and rendered the lesions ready to generate NCXs 74 F Normolipaemic Tumour-stage MF 1 year Diffuse plane xanthomas around brownish-red nodules MF lesions; foamy histiocytes After PUVA treatment. 20121137 M Hypercholesterolaemia and hypertriglyceridaemia Patch-stage MF 10 years Yellowish discolouration of MF patches; foamy histiocytes Yellowish discolouration of MF patches developed gradually over the previous 2 years before MF diagnosis. PUVA might have accelerated galectin-7 expression and rendered the lesions ready to generate NCXs 74 F Normolipaemic Tumour-stage MF 1 year Diffuse plane xanthomas around brownish-red nodules MF lesions; foamy histiocytes After PUVA treatment. [Extracted from the article]

Background High-risk mucosal human papillomavirus (HR-HPV) seems to play a role in cutaneous squamous cell carcinoma (cSCC), particularly in nail tumours, where genitodigital transmission has been suggested. The role of HR-HPV in nonungual cSCC of the finger needs to be clarified. Aim To evaluate the prevalence, clinicopathological characteristics, surrogates and outcomes of HR-HPV in cSCC of the finger. Methods This was an observational bicentric study including patients with an excised in situ or invasive cSCC located on the finger. Differences in HR-HPV and non-HR-HPV tumours were evaluated. Results Forty-five patients (45 tumours) were included. HR-HPV was detected in 33% of cases (22% HPV type 16). The mean age was lower in patients with HR-HPV than in those with non-HR-HPV (62·4 vs. 81·1 years, P = 0·001). HR-HPV tumours were smaller (10 mm vs. 15 mm, P = 0·07) and more frequently intraepidermal (60% vs. 20%, P = 0·004). The absence of elastosis (P = 0·030) and inflammation (P = 0·026) and the presence of basaloid morphology (P = 0·003) were surrogates of HR-HPV detection. Mean p16 positivity was 61% in HR-HPV and 36% in non-HR-HPV tumours (P = 0·061). Recurrence after surgery was more common in HR-HPV tumours (58% vs. 34%), although this was not statistically significant. HR-HPV was detected in 27% of the nonungual tumours. Conclusion HR-HPV-associated cSCC of the finger appears in younger patients, is smaller and is less infiltrative than non-HR-HPV tumours. The presence of a basaloid morphology and the absence of elastosis and inflammation could be used as markers for HR-HPV detection. The high prevalence of HR-HPV in nonungual cSCC suggests its aetiopathogenic role in these tumours. [ABSTRACT FROM AUTHOR]

Neuroendocrine (NE) tumors represent a heterogeneous group of neoplasms.[1] Merkel cell carcinoma (MCC) is an uncommon and highly aggressive primary cutaneous NE carcinoma, usually involving the head and neck of elderly patients. This tumor has a high percentage of lymph-node metastases (>60%) and a rate of distant metastases exceeding 40% but skin-located metastases are unusual. Cutaneous metastasis of mixed neuroendocrine, sarcomatous, and squamous rectal carcinoma mimicking a Merkel cell polyomavirus-negative Merkel cell carcinoma. [Extracted from the article]

Abstract: Background: Glioblastoma is the most common and aggressive primary brain tumor in adults. Despite several factors such as ionizing radiation exposure or rare genetic syndromes have been associated with the development of glioblastoma, no underlying cause has been identified for the majority of cases. We thus aimed to investigate the role of DNA repair polymorphisms in modulating glioblastoma risk. Methods: Genotypic and allelic frequencies of seven common polymorphisms in DNA repair genes involved in nucleotide excision repair (ERCC1 rs11615, ERCC2 rs13181, ERCC6 rs4253079), base excision repair (APEX1 rs1130409, XRCC1 rs25487), double-strand break repair (XRCC3 rs861539) and mismatch repair (MLH1 rs1800734) pathways were analyzed in 115 glioblastoma patients and 200 healthy controls. Haplotype analysis was also performed for ERCC1 rs11615 and ERCC2 rs13181 polymorphisms, located on the same chromosomal region (19q13.32). Results: Our results indicated that carriers of the ERCC2 Gln/Gln genotype were associated with a lower glioblastoma risk (OR=0.32, 95% CI 0.12–0.89; P=0.028), whereas carriers of the MLH1 AA genotype were associated with an increased risk of glioblastoma (OR=3.14, 95% CI 1.09–9.06; P=0.034). Furthermore, the haplotype containing the C allele of ERCC2 rs13181 polymorphism and the T allele of ERCC1 rs11615 polymorphism was significantly associated with a protective effect of developing glioblastoma (OR=0.34, 95% CI 0.16–0.71; P=0.004). Conclusions: These results pointed out that MLH1 rs1800734 and ERCC2 rs13181 polymorphisms might constitute glioblastoma susceptibility factors, and also suggested that the chromosomal region 19q could be important in glioblastoma pathogenesis. [Copyright &y& Elsevier]

Kikuchi’s disease, also known as histiocytic necrotizing lymphadenitis, is a rare, benign, and self-limited disorder of unknown cause that is usually characterized by cervical lymphadenopathy and fever. The etiology and pathogenesis remain unknown, but the clinical presentation, course, and histologic changes suggest an immune response of T cells and histiocytes to an infectious agent. Numerous inciting agents have been proposed. However, the association between human herpesvirus 7 and Kikuchi’s disease has been rarely reported as a possible etiologic agent of Kikuchi’s disease. We report the case of a 24-year-old Caucasian female patient with cervical lymphadenopathy and isolated pruriginous maculo-papular lesions who was diagnosed of Kikuchi’s disease in whom the presence of human herpesvirus 7 DNA was documented in the affected lymph node specimen in the absent of other viruses. Therefore, a possible etiologic relation between the Kikuchi’s disease of this patient and human herpesvirus 7 was established, supporting a role for human herpesvirus 7 involvement in the pathogenesis. [ABSTRACT FROM AUTHOR]

Background: Malignant astrocytomas are the most common primary brain tumors and one of the most lethal among human cancers despite optimal treatment. Therefore, the characterization of molecular alterations underlying the aggressive behavior of these tumors and the identification of new markers are thus an important step towards a better patient stratification and management. Methods and results: VRK1 and VRK2 (Vaccinia-related kinase-1, -2) expression, as well as proliferation markers, were determined in a tissue microarray containing 105 primary astrocytoma biopsies. Kaplan Meier and Cox models were used to find clinical and/or molecular parameters related to overall survival. The effects of VRK protein levels on proliferation were determined in astrocytoma cell lines. High levels of both protein kinases, VRK1 or VRK2, correlated with proliferation markers, p63 or ki67. There was no correlation with p53, reflecting the disruption of the VRK-p53-DRAM autoregulatory loop as a consequence of p53 mutations. High VRK2 protein levels identified a subgroup of astrocytomas that had a significant improvement in survival. The potential effect of VRK2 was studied by analyzing the growth characteristics of astrocytoma cell lines with different EGFR/VRK2 protein ratios. Conclusion: High levels of VRK2 resulted in a lower growth rate suggesting these cells are more indolent. In high-grade astrocytomas, VRK2 expression constitutes a good prognostic marker for patient survival. [ABSTRACT FROM AUTHOR]

We present an unreported coexistence: eczema herpeticum ( EH) with histopathological findings of herpetic folliculitis ( HF) after allogeneic bone marrow transplantation ( BMT). A patient with atopic dermatitis ( AD) underwent allogeneic BMT for idiopathic acquired aplastic anemia. She had been receiving cyclosporine (150 mg/12 h) and acyclovir (400 mg/12 h) for 6 months. A facial rash was observed, composed of monotonous erythematous, umbilicated papulo-vesicles and papulo-crusts <4 mm in size. The histopathological study showed herpetic cytopathic changes within the epidermis that extended into the hair follicle epithelium. Interestingly, microscopic HF has not previously been associated with post-transplant patients or EH. However, it is reasonable to hypothesize that the coexistence of these herpes simplex virus-related events may be underreported in the literature. Although further studies are necessary, we suggest that the prophylactic antiviral dose after BMT be enhanced in patients with underlying dermatologic diseases, especially in those with AD. [ABSTRACT FROM AUTHOR]

Keywords: allergic contact dermatitis; case report; cutaneous pseudolymphoma; irritative contact dermatitis; lymphomatoid contact dermatitis EN allergic contact dermatitis case report cutaneous pseudolymphoma irritative contact dermatitis lymphomatoid contact dermatitis 410 412 3 04/05/23 20230501 NES 230501 CASE REPORT Lymphomatoid contact dermatitis (LCD) is an uncommon inflammatory disorder classified as cutaneous pseudolymphoma (CPSL). Chronic allergic contact dermatitis (ACD) of numerous allergens has been reported to be associated with LCD.[1] However, LCD secondary to an acute irritative contact dermatitis (ICD) has never been described before. Allergic contact dermatitis, case report, cutaneous pseudolymphoma, irritative contact dermatitis, lymphomatoid contact dermatitis. [Extracted from the article]

Gemcitabine is a deoxycytidine analog antimetabolite that is now accepted as first-line treatment for advanced and metastatic pancreatic carcinoma. Gemcitabine-related thrombotic microangiopathy associated with systemic hemolytic-uremic syndrome or thrombotic thrombocytopenia purpura has rarely been described. Herein, we report a patient who developed a livedoid thrombotic microangiopathy with no signs of associated hemolytic-uremic syndrome. Cutaneous thrombotic microangiopathy occurred after the administration of his 17th cycle and a cumulative dose of 53.65 g/m2 of gemcitabine. Some authors have suggested that this toxicity may be dose-related, and a 10th cycle or a cumulative dose of 9-56 g/m2 have been proposed as the prothrombotic threshold. Interestingly, dermatopathologic findings were limited to the subcutis and they consisted of small-vessel occlusion by intravascular fibrin and leukocytes, vessel wall thickening and endothelial cell swelling. Surprisingly, we observed some structures arranged radially with needle-shaped clefts resembling those of sclerema neonatorum. Awareness of this potential cutaneous toxicity by dermatologists and dermatopathologists is extremely important. Mir-Bonafé JM, Román-Curto C, Santos-Briz A, Cañueto J, Fernández-López E, Unamuno P. Gemcitabine-associated livedoid thrombotic microangiopathy with associated sclerema neonatorum-like microscopic changes. [ABSTRACT FROM AUTHOR]

We report a 15-year-old boy with lesions mainly involving glans penis and prepuce, which appeared 4 years before. Histopathological study showed representative features of plasma cell balanitis of Zoon confirming this diagnosis. He presented a favorable outcome under topical tacrolimus 0.1%. The occurrence of this entity during childhood is extremely rare. [ABSTRACT FROM AUTHOR]

The Buschke-Ollendorff syndrome (BOS) (MIM 166700) is a rare autosomal dominant disorder with highly variable expression that consists of multiple cutaneous elastic nevi and osteopoikilosis. It may exhibit clinical variations, and in some patients either skin or bone lesions may be absent. Recently it has been demonstrated that the heterozygous loss of function in LEMD3 can result in osteopoikilosis, BOS, and melorheostosis. We have studied three generations in a family with BOS with a variable phenotype. The genetic analyses revealed a heterozygous c.2203C>T nonsense mutation at the LEMD3 locus. The mutation induces a change in the 735 arginine codon to a stop codon. This study shows the wide phenotypic variation in BOS and increases the repertory of mutations described to date in LEMD3. [ABSTRACT FROM AUTHOR]

The Beckwith-Wiedemann syndrome is a rare condition characterized by macrosomia, macroglossia, omphalocele, and visceromegaly. Although the development of neoplasia is frequent, the English literature has never described an association with mesenchymal hamartoma of the liver. We report an exceptional case of Beckwith-Wiedemann syndrome associated with a cystic mesenchymal hamartoma of the liver in a newborn. [ABSTRACT FROM AUTHOR]

Crystalglobulinemia is an extremely rare pathology that is associated in most cases with plasma cell dyscrasia, mainly multiple myeloma. In most cases, it may be the manifestation of incipient gammopathy or it manifests shortly after diagnosis. We report a patient with ischemic lesions of thrombotic origin in lower limbs. Subsequently, renal involvement occurs, in view of this involvement, it is suspected that the patient may have an associated vasculitis. After performing the biopsy and with the subsequent diagnosis of monoclonal gammopathy of uncertain significance, the diagnosis is made. We review the most recent bibliography of patients who have been diagnosed with crystalglobulinemia associated with plasma dyscrasia focusing in those with thrombotic vasculopathy or acute renal failure. In our case, in addition to being associated with monoclonal gammopathy of undetermined significance that is less frequent, the debut of the symptoms is years before the detection of the monoclonal peak. This could speak of patients with a low peak of monoclonal component (not detected by immunoelectrophoresis) who could have kidney and vascular damage. [ABSTRACT FROM AUTHOR]

Striated muscle hamartoma ( SMH) is a rare, congenital or acquired, benign tumor that predominantly affects children. Therapeutic management has classically been surgical intervention. We present a pediatric case of a facial plaque-type SMH with spontaneous regression that highlights the importance of clinical observation for a conservative approach. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 4-year-old boy presented an 11-month history of headaches, paresis and subdural hygromas. His physical examination showed scarce papules with an atrophic white centre and rim of erythema located on the abdomen, internal aspect of both ankles and scrotum. He was diagnosed with Degos disease (DD) and treated with infusions of eculizumab and subcutaneous treprostinil and pathomechanisms of endothelial dysfunction, coagulation abnormalities and vasculitis.

Background Cutaneous squamous cell carcinoma ( CSCC) is the second most frequent cancer in humans after basal cell carcinoma, and its incidence is dramatically rising. CSCC is rarely problematic, but given its high frequency, the absolute number of complicated cases is also high. It is necessary to identify molecular markers in order to recognize those CSCCs with poor prognosis. There is controversy concerning the role of epidermal growth factor receptor ( EGFR) as a marker of prognosis in CSCC. In addition, EGFR-targeted therapies have emerged in recent years and a better understanding of the role of EGFR in CSCC may be of help for some patients in predicting prognosis and guiding curative management. Objectives To evaluate the role of EGFR as a prognostic factor in CSCC. Methods We evaluated clinical and histopathological features, including events of poor clinical evolution, in a series of 94 cases of CSCC. We also analysed EGFR expression by immunohistochemistry, fluorescent in situ hybridization and quantitative polymerase chain reaction. Results We detected EGFR in 85 cases (90%), with overexpression in 33 cases (35%), and aberrant EGFR expression in the cytoplasm in 50 cases (53%). EGFR overexpression in the primary tumours was associated with lymph node progression, tumour-nodes-metastasis stage progression and proliferation (Ki-67 staining) in CSCC. EGFR overexpression and poor grade of differentiation were the strongest independent variables defining lymph node metastasis and progression in CSCC in a logistic regression model. Conclusions We demonstrate that EGFR overexpression has prognostic implications associated with lymph node metastasis and progression in CSCC. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 51-year-old woman with Langerhans Cell Histiocytosis (LHC) which includes pulsed dye laser based treatment and side effects of aggressive chemotherapy.

A letter to the editor is presented which describes the case of a 44-year old woman with breast cancer who had interstitial granulomatous dermatitis with arthritis due to long-term trastuzumab treatment.

Background Cutaneous squamous cell carcinoma (CSCC) is the second most frequent cancer in humans and can be both locally invasive and metastatic at distant sites. While research efforts have been made to predict poor outcome of CSCC, there is a lack of knowledge regarding molecular markers. Podoplanin has been associated with poor outcome in several types of cancer including CSCC, but this is controversial and only a few studies have evaluated the prognostic implications of podoplanin in the development of this tumor. Methods We evaluated podoplanin expression in a series of 94 CSCCs, and searched for associations between podoplanin expression and histopathological characteristics and with events of poor clinical evolution of the disease. Results Podoplanin expression was observed in 48.9% of the cases and the expression was considered moderate to intense in 19 of the cases. Moderate/intense podoplanin was associated with infiltrative growth pattern, desmoplasia, lymphovascular invasion, higher risk of nodal progression (NP) and short disease-free survival, specifically with a short latency to NP. Conclusions This article provides evidence supporting the implication of podoplanin expression as a marker of bad prognosis of CSCC. [ABSTRACT FROM AUTHOR]

Key Clinical Message Primary cutaneous plasmacytoma should be in the differential diagnosis in case of solitary or multiple erythematous-violaceous nodules or papules. The diagnosis relies on clinical, histological, and immunochemical findings, without underlying evidence of multiple myeloma. Treatment should be individualized, and agents such as bortezomib or lenalidomide have shown to be effective. [ABSTRACT FROM AUTHOR]

Background: Graft-versus-host disease (GvHD) remains the major obstacle to successful allogeneic hematopoietic stem cell transplantation, despite of the immunosuppressive regimens administered to control T cell alloreactivity. PI3K/AKT/mTOR pathway is crucial in T cell activation and function and, therefore, represents an attractive therapeutic target to prevent GvHD development. Recently, numerous PI3K inhibitors have been developed for cancer therapy. However, few studies have explored their immunosuppressive effect. Methods: The effects of a selective PI3K inhibitor (BKM120) and a dual PI3K/mTOR inhibitor (BEZ235) on human T cell proliferation, expression of activation-related molecules, and phosphorylation of PI3K/AKT/mTOR pathway proteins were analyzed. Besides, the ability of BEZ235 to prevent GvHD development in mice was evaluated. Results: Simultaneous inhibition of PI3K and mTOR was efficient at lower concentrations than PI3K specific targeting. Importantly, BEZ235 prevented naïve T cell activation and induced tolerance of alloreactive T cells, while maintaining an adequate response against cytomegalovirus, more efficiently than BKM120. Finally, BEZ235 treatment significantly improved the survival and decreased the GvHD development in mice. Conclusions: These results support the use of PI3K inhibitors to control T cell responses and show the potential utility of the dual PI3K/mTOR inhibitor BEZ235 in GvHD prophylaxis. [ABSTRACT FROM AUTHOR]

The mechanistic target of rapamycin ( mTOR) pathway is crucial for the activation and function of T cells, which play an essential role in the development of graft- versus-host disease (Gv HD). Despite its partial ability to block mTOR pathway, the mTORC1 inhibitor rapamycin has shown encouraging results in the control of Gv HD. Therefore, we considered that simultaneous targeting of both mTORC1 and mTORC2 complexes could exert a more potent inhibition of T cell activation and, thus, could have utility in Gv HD control. To assess this assumption, we have used the dual mTORC1/ mTORC2 inhibitors CC214-1 and CC214-2. In vitro studies confirmed the superior ability of CC214-1 versus rapamycin to block mTORC1 and mTORC2 activity and to reduce T cell proliferation. Both drugs induced a similar decrease in Th1/Th2 cytokine secretion, but CC214-1 was more efficient in inhibiting naïve T cell activation and the expression of T-cell activation markers. In addition, CC214-1 induced specific tolerance against alloantigens, while preserving anti-cytomegalovirus response. Finally, in a mouse model of Gv HD, the administration of CC214-2 significantly improved mice survival and decreased Gv HD-induced damages. In conclusion, the current study shows, for the first time, the immunosuppressive ability of CC214-1 on T lymphocytes and illustrates the role of CC214-2 in the allogeneic transplantation setting as a possible Gv HD prophylaxis agent. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 64‑year‑old woman with a medical history of idiopathic dilated cardiomyopathy and cardiac insufficiency developed an erythematous plaque on the chest. Her histopathological study revealed spongiotic dermatitis with telangiectatic vessels in papillary dermis and a mixed inflammatory infiltrate and diagnosis of reticular telangiectatic erythema. It mentions reticular telangiectatic erythema associated with implantable automatic cardioverter defibrillator.

The era of targeted therapy has introduced a new therapeutic perspective for melanoma patients. Treatment with BRAFV600 inhibitors has improved overall and disease-free survival in metastatic melanoma patients whose tumors harbor BRAFV600 mutations. Although the BRAFV600E mutation appears to have a critical role in tumor initiation, its expression during tumor progression remains controversial. In fact, various authors claim that BRAFV600E heterogeneity is evident in melanoma tumors. Herein, we investigated the pattern of BRAFV600E expression in matched primary and metastatic samples from 140 patients. Using a combination of real-time PCR and immunohistochemical analyses, we demonstrated that BRAFV600E expression is homogeneous in melanoma tumors and hypothesized that the heterogeneity described by others might be attributable to technical issues when molecular methods are used. We also demonstrated the high efficiency of the anti-BRAFV600E VE1 antibody for the detection of BRAFV600E mutations in melanoma tumors. [ABSTRACT FROM AUTHOR]

Fibroblastic connective tissue nevus (FCTN) is a rare, benign, dermal mesenchymal hamartoma that affects children. We report a 15-year-old boy with a congenital FCTN and describe the clinical, dermatoscopic, and histopathologic features. [ABSTRACT FROM AUTHOR]

Ovarían mature cystic teratoma is a germ cell tumor whích forms mature tissue from any germ layer. The tissues most frequently found are those derived from the ectoderm, beíng uncommon tissues derived from the neuroecloderm. VVe describe Lwo cases oí cyslic Leraloma wilh malure cerehellum and one case of cystic teratoma with ¡nmature cerebellum. [ABSTRACT FROM AUTHOR]

BACKGROUND Metastatic dissemination is the most frequent cause of death in patients with sporadic colorectal cancer (sCRC). It is believed that the metastatic process is related at least in part to a specific background of genetic alterations accumulated in cells from primary tumors, and the ability to detect such alterations is critical for the identification of patients with sCRC who are at risk of developing metastases. METHODS The authors used high-resolution, 500-K single nucleotide polymorphism arrays to identify copy number alteration profiles present at diagnosis in primary tumors from patients with metastatic (n = 23) versus nonmetastatic (n = 26) sCRC. RESULTS The results revealed a characteristic pattern of copy number alterations in metastatic sCRC tumors that involved losses of 23 regions at chromosomes 1p, 17p, and 18q, together with gains of 35 regions at chromosomes 7 and 13q. CONCLUSIONS In line with expectations, the copy number profile investigated involved multiple genes that were associated previously with sCRC (ie, SMAD2) and/or the metastatic process (ie, podocalyxin-like [ PODXL]), and it also was associated with a poorer outcome. Cancer 2014;120:1948-1959. © 2014 American Cancer Society. [ABSTRACT FROM AUTHOR]

Malignant astrocytomas are the most aggressive primary brain tumors with a poor prognosis despite optimal treatment. Dysfunction of mismatch repair (MMR) system accelerates the accumulation of mutations throughout the genome causing uncontrolled cell growth. The aim of this study was to characterize the MMR system defects that could be involved in malignant astrocytoma pathogenesis. We analyzed protein expression and promoter methylation of MLH1, MSH2 and MSH6 as well as microsatellite instability (MSI) and MMR gene mutations in a set of 96 low- and high-grade astrocytomas. Forty-one astrocytomas failed to express at least one MMR protein. Loss of MSH2 expression was more frequent in low-grade astrocytomas. Loss of MLH1 expression was associated with MLH1 promoter hypermethylation and MLH1 -93G>A promoter polymorphism. However, MSI was not related with MMR protein expression and only 5% of tumors were MSI-High. Furthermore, the incidence of tumors carrying germline mutations in MMR genes was low and only one glioblastoma was associated with Lynch syndrome. Interestingly, survival analysis identified that tumors lacking MSH6 expression presented longer overall survival in high-grade astrocytoma patients treated only with radiotherapy while MSH6 expression did not modify the prognosis of those patients treated with both radiotherapy and chemotherapy. Our findings suggest that MMR system alterations are a frequent event in malignant astrocytomas and might help to define a subgroup of patients with different outcome. [ABSTRACT FROM AUTHOR]

One important differential diagnosis of facial erythema in a patient receiving an allogeneic bone marrow transplant ( BMT) is acute graft-versus-host disease ( GVHD). Demodex folliculorum has been rarely implicated in the development of facial rashes in immunosuppressed patients, including BMT recipients. We report the case of a patient, suffering from acute lymphoblastic leukemia, who after bone marrow transplantation developed a facial rash due to D. folliculorum mimicking GVHD. Differential diagnosis of facial rashes and demodicidosis after BMT is reviewed. [ABSTRACT FROM AUTHOR]

Scleromyxedema (SM) is a rare primary cutaneous inflammatory mucinosis characterised by papular mucinosis, monoclonal gammopathy and extracutaneous involvement. Most therapeutic options have failed in SM but high-dose therapy followed by autologous peripheral blood stem cell transplantation (APBSCT) appears to be highly effective, although SM normally relapses. We report the case of a 29-yr-old patient with severe SM who achieved stringent complete response with Bortezomib plus Dexamethasone after an early relapse subsequent to a high-dose melphalan regimen followed APBSCT. It is of particular note that dermatological lesions responded to both therapies before M-component modifications, suggesting that SM is independent of M-component characteristics. However, treatment should be directed towards the underlying plasma cell malignancy with typical anti-myeloma agents. [ABSTRACT FROM AUTHOR]

Although non-specific skin lesions are quite common in patients with leukemia, the specific infiltration of the skin by blast cells, known as leukemia cutis, is rare. Its incidence ranges from 1 to 50% and depends on the specific type of leukemia. Leukemic vasculitis represents a rare form of leukemia cutis consisting of the involvement and destruction of vessel walls by leukemic cells, which in themselves cause the vascular injury. To date, only few cases of leukemic vasculitis have been described. Here, we report two cases of this rare skin condition, one of which mimicked cutaneous polyarteritis nodosa. Cañueto J, Meseguer-Yebra C, Román-Curto C, Santos-Briz A, Fernández-López E, Fraile C, Unamuno P. Leukemic vasculitis: a rare pattern of leukemia cutis. [ABSTRACT FROM AUTHOR]

Diffuse large B-cell lymphoma (DLBCL) is the most common subtype of non-Hodgkin lymphoma with diverse clinical, pathological and genetic features. An 80-year-old woman was diagnosed with a stage IV-X-A (Ann Arbor staging system) low grade systemic follicular lymphoma (FL). Four months after the diagnosis, she developed asymptomatic, indurated, annular erythematous plaques with centrifugal growth on the abdomen, arms and neck. The skin biopsy revealed a dermal infiltration compatible with diffuse large B-cell lymphoma. Light chain restriction by flow cytometry was demonstrated. The variable, diverse and joining genes of immunoglobulin G heavy chains were sequenced and cloned, and showed the same pattern for both the initial follicular lymphoma and the skin infiltration. Translocation t (14;18) was present in both samples. Based on these findings, a diagnosis of transformation of follicular lymphoma into diffuse large B cell lymphoma was made. Although other hematological disorders such as primary cutaneous diffuse large B cell lymphoma, mycosis fungoides and the cutaneous infiltration of chronic juvenile myeloid leukemia can present as annular lesions, we were unable to find any previous reports of these as a manifestation of cutaneous infiltration by systemic non-Hodgkin lymphoma. [ABSTRACT FROM AUTHOR]

Abstract: Papular epidermal nevus with “skyline” basal cell layer is a variant of keratinocytic nevus that usually occurs sporadically but may affect different family members. We report on the fourth family with papular epidermal nevus with “skyline” basal cell layer affecting a 3‐month‐old girl and her father. [ABSTRACT FROM AUTHOR]