Search

Spiny keratoderma is a rare dermatological manifestation that occurs sporadically or hereditarily. These are millimetric hyperkeratotic lesions on the palms and/or soles, usually asymptomatic. Histopathologically, they consist of well-defined columns of parakeratosis on a thinned stratum corneum. Sporadic cases can be associated with chronic diseases or neoplasms. We present a case of palmar spiny keratoderma in a man in the seventh decade of life with cirrhosis due to primary sclerosing cholangitis, and hepatocellular carcinoma. He had remission of the skin lesions two months after performing a liver transplant. This behavior favors the interpretation of spiny keratoderma as a paraneoplastic manifestation of hepatocellular carcinoma. We have not found previous reports of spiny keratoderma from Argentina. We review the literature on this entity.

Introduction: Although therapeutic advances have improved results of cutaneous melanoma (CM), sentinel node-positive patients still have substantial risk to develop recurrent disease. We aim to investigate prognostic indicators associated with disease recurrence in positive-sentinel lymph node biopsy (SLNB) patients in a Latin-American population., Methods: Retrospective analysis of CM patients and positive-SLNB (2010-2020). Patients were divided into two groups: Group A (completion lymph node dissection, CLND), Group B (active surveillance, AS). Association of demographics, tumor data and SLN features with recurrence-free (RFS), distant metastases-free (DMFS) and melanoma specific (MSS) survival was analyzed., Results: Of 205 patients, 45 had a positive SLNB; 27(60%) belonged to Group A and 18(40%) to Group B. With a median follow-up of 36 months, 16 patients (12 in Group A and 4 in Group B) developed recurrent disease and estimated 5-yr RFS at any site was 60% (CI95%, 0.39 - 0.77) (44.5% in CLND group vs. 22% in AS group; P = 0.20). Estimated 5-yr DMFS and MSS: 65% (CI 95%, 0.44 - 0.81) and 73% (CI 95%, 0.59 - 0.89) with no differences between groups (p = 0.41 and 0.37, respectively). Independent predictors of poorer MSS were extranodal extension (ENE) and MaxSize > 2 mm of melanoma deposit in SLN. Factors independently associated with DMFS: Breslow depth > 2 mm, ENE, number (≥ 2) of positive SN and CLND status., Conclusion: Primary tumor and SN features in melanoma provide important prognostic information that help optimize prognosis and clinical management. AS is now the preferred approach for most positive-SLNB CM patients.

Triple-negative breast cancer (TNBC) is an aggressive breast cancer subtype. There are neither universally accepted prognostic markers nor molecular targets related to TNBC. The histamine H4 receptor (H4R) has been characterized in TNBC experimental models, demonstrating its critical role in tumor development and progression. In this study, H4R expression was compared in breast cancer subtypes and correlated with clinical features using The Cancer Genome Atlas data (Pan-Cancer Atlas). The H4R status was further evaluated by immunohistochemistry in 30 TNBC human samples in relation to clinicopathological parameters. Results indicate that H4R was downregulated in basal-like/TNBC compared with luminal A and normal breast-like tumors. The higher expression of H4R was associated with improved progression-free and overall survival outcomes in basal-like/TNBC. H4R immunoreactivity was detected in about 70% of tumors, and its expression was positively correlated with the levels in the histologically normal peritumoral tissue. High H4R expression in peritumoral tissue correlated with reduced number of lymph node involvement and unifocal TNBC, while it was associated with increased patient survival. In conclusion, the H4R might represent a potential prognostic biomarker in TNBC. Further studies in large cohorts are needed to better understand the significance of H4R in breast cancer biology.

Whipple's disease is a chronic mutisystem disease caused by the bacteria Tropherima whipplei. Approximately 1200 cases have been described in the literature. The worldwide incidence is estimated at 9.8 cases per million people. Data from South America and Europe show that it affects middle-aged males. It is believed that host immunological factors rather than agent genotypic traits influence the course of the infection. Since the clinical characteristics are usually nonspecific and the wide spectrum of manifestations in individual organs may be underestimated, the diagnosis remains challenging. We present a case with multisystem compromise confirmed by histopathology. We consider its publication important given the few cases documented in South America and the relevance of bearing in mind the importance of an early diagnosis for a prompt treatment that improves the prognosis of this rare disease.

Background/objective: Papular epidermal nevus with skyline basal cell layer (PENS) is a recently described type of epidermal nevus with characteristic histopathologic findings, mainly regular, rectangular acanthosis and a well-demarcated basal cell layer with clear palisading and separation between basal cell nuclei and the first row of Malpighian cell nuclei. Although the first reports described randomly distributed lesions appearing sporadically in otherwise healthy patients, cases of Blaschkoid distribution, lesions associated with extracutaneous manifestations, and familial cases have been reported., Methods: We performed a review of the clinical charts of all patients with histologic diagnosis of PENS in our hospital. We evaluated epidemiologic, clinical, and histologic features. We then reviewed the literature with a particular emphasis on the presence or absence of extra-cutaneous associations., Results: Three patients with PENS are described. One had a single lesion, one had three lesions, and one, a patient with mild developmental delay, a curved penis, and hypospadias, had multiple lesions., Conclusion: The probability of having extracutaneous manifestations is 6.3 times as great in individuals with more than four lesions. Therefore these patients may need closer follow-up., (© 2016 Wiley Periodicals, Inc.)

Erythrosis pigmentosa peribuccalis is an infrequent condition, with fewer than 35 cases reported in the literature, that affects mainly women. It presents as small papules that form a hyperpigmented plaque around the mouth and nose. Little is known about the etiology of this condition, its dermoscopic characteristics have not been described, and no effective treatment has been reported. We report a 15-year-old girl with this rare dermatosis who was successfully managed with daily calcipotriol, weekly topical ivermectin, and strict photoprotection. We also describe for the first time the dermoscopic findings of this entity., (© 2016 Wiley Periodicals, Inc.)

Intravascular lymphoma is a rare subtype of extranodal diffuse large B-cell lymphoma characterized by clonal proliferation of lymphocytes inside of small and medium caliber vessels. Its incidence is estimated at one case per million. The clinical picture is very variable, but frequently has skin and central nervous system involvement. It is diagnosed by demonstrating pathological blood vessel infiltration by lymphoma cells. We report a 44 years old male presenting with fever, malaise and erythematous lesions in the abdominal wall. An abdominal wall biopsy showed dilated vascular vessels with atypical cells in their lumen, compatible with large B-cell intravascular lymphoma. He was treated with rituximab, cyclophosphamide, adriamycin, vincristine and prednisone and an autologous hematopoietic stem cell transplantation, achieving a complete remission that has lasted two years.

The pulmonary marginal zone B-cell lymphoma of bronchus associated lymphoid tissue of the lung (BALT) is a rare illness that can remain without symptoms. Radiological findings of pulmonary lymphoma are heterogeneous. In literature, bronchiectasis is only described in one patient who also had besides adenomegalies. We reported on a 48-year-old female patient. She showed symptoms consistent with dyspnea with productive cough; there were crepitant sounds in the auscultation. Pulmonary functional test has shown a severe restrictive pattern with a low FVC and DLCO. CT scan showed bronchiectasis in the medium lobule without adenomegalies. Echocardiogram was normal, and the laboratory findings only showed leukocytosis. There were no findings in the bronchoscopy, but the lung biopsy showed a B-cell pulmonary lymphoma (positive to CD20 and CD79a in immunostaining). A wide variety of radiological manifestations has been previously described; however, we have presented this rare case, with bronchiectasis, as unique radiological finding.

The interstitial lymphoid pneumonia (LIP) is an uncommon disorder, described as non-neoplastic lung lymphoid tissue hyperplasia and classified as an interstitial lung disease. It has been described in association with HIV infection, autoimmune disorders, policlonal hypergammaglobulinemia and less frequently, with hypogammaglobulinemia. We report the case of a 66 year old female patient with a history of diabetes, Sjogren syndrome and hypertension. She was referred to our hospital due to a dry cough and dyspnea (FC II-III). The physical examination showed bilateral dry crackles and splenomegaly. Laboratory studies showed thrombocytopenia (50 000/ mm3) and hypogammaglobulinemia. A computed tomography thoracic scan showed interstitial bilateral basal lung infiltrates with small peribroncovascular nodules. A lung biopsy was made by thoracoscopy and reported LIP. Initial treatment consisted of oral methilprednisone, 40 mg daily, and once a month intravenous gammaglobulin 500 mg/kg, with good clinical and radiological response. A splenectomy was done due to persistent thrombocytopenia associated with hypersplenism, with good response of the platelets counts. No lymphoid clonal or other associated disease was detected.

Objectives: To investigate the occurrence of microsatellite instability (MSI) in paediatric Barrett's oesophagus (BE) with the aim of identifying a potential marker for patients at risk for developing dysplasia or adenocarcinoma at a later stage., Patients and Methods: Endoscopic oesophageal biopsies from 6 pediatric patients harbouring BE and 6 age-matched controls were retrospectively investigated. After all of the samples were made anonymous, a 5-microm section was cut and stained with toluidine blue. A precise cell was selected and captured using a laser microdissection microscope. Microsatellite analysis was performed on the DNA extracted from the captured cells. Genomic DNA was amplified by polymerase chain reaction using primers for 5 mononucleotide repeats and analysed by GeneMapper software on an ABI 3730. DNA extracted from a formalin-fixed colonic adenocarcinoma known to have MSI was used as a positive control., Results: The median age of the patients with BE was 9 years. The relevant complaint was long-standing vomiting in 4 cases and history of dysphagia in 3 cases (1 case had both symptoms). All of the cases had a history of reflux oesophagitis with histological confirmation of oesophagitis. Reflux was associated with a hiatus hernia, obesity, and cerebral palsy in each of 3 cases, and with asthma in 2 patients. Histologically, all of the cases showed the presence of specialized intestinal metaplasia containing goblet cells replacing the squamous oesophageal epithelium. None of the cases tested showed any evidence of MSI., Conclusions: A single molecular marker that would allow recognition of those patients at risk for Barrett's adenocarcinoma has not yet been identified. The absence of MSI in our cases could be due to the need for a longer period of BE before genomic instability develops, or MSI may only arise in a proportion of patients. This does not exclude other genetic alterations, however rare they may be.