The Expression of PRAME as an Aid for Diagnosis and Evaluation of Histologic Margins of Intraepidermal Cutaneous Melanoma in Xeroderma Pigmentosum Patients.

Xeroderma Pigmentosum (XP) is a genetic disorder characterized by photosensitivity, dyschromia, and high risk of skin cancer. From a clinical and histologic view, it can be difficult to diagnose cutaneous melanoma (CM) in XP patients and to define its resection margins. We aimed to study the role of PRAME (PReferentially Expressed Antigen in MElanoma) in differentiating intraepidermal CM from superficial atypical melanocytic proliferation of uncertain significance (SAMPUS) and evaluating the histological margins of CMs. We included XP patients. melanocitic and nonmelanocytic lesions with adjacent skin, and, as control groups, sun-damaged skin from non-XP individuals. Melanocytic lesions with a consensus diagnosis were grouped into CM, SAMPUS, or benign. The selected samples were PRAME-immunoshistochemically stained, and the ratio between immuno-positive cells/mm was recorded, according to Olds and colleagues for intraepidermal lesions. Lezcano and colleagues' method was used for intradermal lesions. Clinical data from XP patients were reviewed. All 9 patients were alive and well at the study closure, even those who developed melanoma metastases. Positive/diffuse PRAME expression was found in 29% (7/24) of intraepidermal CMs and 20% (1/5) SAMPUS samples. All 103 XP control samples and 24 adjacent lesions skin of non-XP patients were PRAME negative. This was a single-center and retrospective study, using a relatively small sample, limiting our conclusions. In XP patients' lesions, PRAME expression could help in the setting of challenging melanocytic tumors and surgical margins evaluation. It is also possible that the method can avoid overdiagnosis and, consequently, more aggressive treatment recommendation in unequivocal CM cases.

Misleading subcutaneous mycosis: a case report of subsequent clinical mycetoma-like and histological chromoblastomycosis-like lesions.

Hyalohyphomycosis and phaeohyphomycosis are groups of mycoses caused by several agents and show different clinical manifestations. We report a case of an immunocompromised patient who presented rare manifestations of opportunistic mycoses: mycetoma-like hyalohyphomycosis on his right foot caused by Colletotrichum gloeosporioides, followed by cutaneous phaeohyphomycosis on his right forearm caused by Exophiala oligosperma. Further to the rarity of this case, the patient's lesion on the foot shows that the clinical aspects of mycetomas could falsely appear in other fungal infections similar to hyalohyphomycosis. We also show that the muriform cells that were seen in the direct and anatomopathological examination of the skin are not pathognomonic of chromoblastomycosis, as observed in the lesion of the patient's forearm.

Role of tangential biopsy in the diagnosis of nail psoriasis.

BACKGROUND: Histopathology can be crucial for diagnosis of inflammatory nail diseases. Longitudinal excision and punch biopsies are the most used techniques to obtain the tissue sample. However, there is a low clinical-histopathological correlation, besides the risk of nail dystrophy. Tangential excision biopsy (TB) is a well-established technique for the investigation of longitudinal melanonychia. TB could also be used to evaluate diseases in which histopathological changes are superficial, as in psoriasis. OBJECTIVE: To study the value of TB in the histopathological diagnosis of nail psoriasis. METHODS: This is a prospective and descriptive study of the clinical-histopathological findings of samples from the nail bed or matrix and nail plate of 13 patients with clinical suspicion of nail psoriasis. Biopsies were obtained through partial nail avulsion and TB. RESULTS: In nine patients, the hypothesis of psoriasis was confirmed by histopathology; in one, the criteria for diagnosing nail lichen planus were fulfilled. The tissue sample of only one patient did not reach the dermal papillae, and, in four of 13 patients, the adventitial dermis was not sampled. No patient developed onychodystrophy after the procedure. STUDY LIMITATIONS: In three patients, the clinical and, consequently, histopathological nail changes were subtle. Also, in one patient's TB didn't sample the dermal papillae. CONCLUSIONS: TB is a good option to assist in the histopathological diagnosis of nail psoriasis, especially when appropriate clinical elements are combined. Using this technique, larger and thinner samples, short postoperative recovery time, and low risk of onychodystrophy are obtained.

Is Bartonella sp. infection relevant in hematological malignancies in HIV-negative patients? A literature review.

Bartonelloses are diseases caused by Bartonella sp., transmitted to humans by blood sucking arthropod vectors. Clinical presentations include bacillary angiomatosis, cat scratch disease and atypical forms. We performed a review of cases of bartonelloses and hematological malignancies published in HIV-negative patients. Terms used were Bartonella or Bacillary Angiomatosis and Leukemia, Lymphoma, Multiple Myeloma, or Cancer. Fifteen cases met our criteria. Clinical presentations included bacillary angiomatosis, chronic fever, chronic lymphadenopathy, osteomyelitis, neuroretinitis, chronic anemia and hepatosplenic peliosis. Fourteen patients were asymptomatic after antibiotic therapy, and one died before antibiotic treatment. Clinicians should be suspicious of Bartonella sp. infections in immunocompromised patients.

Misleading subcutaneous mycosis: a case report of subsequent clinical mycetoma-like and histological chromoblastomycosis-like lesions

ABSTRACT Hyalohyphomycosis and phaeohyphomycosis are groups of mycoses caused by several agents and show different clinical manifestations. We report a case of an immunocompromised patient who presented rare manifestations of opportunistic mycoses: mycetoma-like hyalohyphomycosis on his right foot caused by Colletotrichum gloeosporioides, followed by cutaneous phaeohyphomycosis on his right forearm caused by Exophiala oligosperma. Further to the rarity of this case, the patient's lesion on the foot shows that the clinical aspects of mycetomas could falsely appear in other fungal infections similar to hyalohyphomycosis. We also show that the muriform cells that were seen in the direct and anatomopathological examination of the skin are not pathognomonic of chromoblastomycosis, as observed in the lesion of the patient's forearm.

Mohs micrographic surgery in rare cutaneous tumors: a retrospective study at a Brazilian tertiary university hospital

Abstract Background Mohs micrographic surgery is an established technique in the treatment of cutaneous neoplasms. It offers higher cure rates and the main indications are non-melanoma malignant skin tumors. Few studies have been performed on the treatment of rare tumors through this technique. Objective To study rare skin tumors and rare variants of basal cell carcinoma and squamous cell carcinoma submitted to Mohs micrographic surgery in a tertiary service in relation to frequency, disease-free evolution, and applicability of this surgical procedure for this group of tumors. Methods This was a retrospective observational study including rare skin tumors and less common variants of basal cell carcinoma and squamous cell carcinoma treated using Mohs micrographic surgery, between October 2008 and April 2021. Results During the study period, 437 tumors were treated using Mohs micrographic surgery, and 22 (5%) rare skin tumors were selected. The tumors comprised three dermatofibrosarcomas protuberans, two atypical fibroxanthomas, two spiradenomas, two hypercellular fibrohistiocytomas, one primary cutaneous adenocarcinoma, one trichoblastoma, one porocarcinoma, one chondroid syringoma, one cutaneous angiosarcoma, one Merkel cell carcinoma, and one sebaceous carcinoma. Six other cases of rare basal cell carcinoma variants with trichoepitheliomatous differentiation, metatypical basal cell carcinoma, and clear cell squamous cell carcinoma were included. There were no cases of recurrence after an average of six years of follow-up. Study limitations This is a retrospective study on rare neoplasms carried out in a single referral center, and this surgical technique isn't widely available in the public service. Conclusion This retrospective case series showed that Mohs micrographic surgery is an appropriate treatment for rare skin tumors. They corresponded to 5% of the tumors treated by the technique during a 12-year-period, with no recurrences identified.

Scarring versus Non-Scarring Alopecia: An Interobserver Histopathological Reproducibility Study.

Introduction: Distinguishing scarring (SA) versus non-scarring alopecia (NSA) may not be a simple procedure on either clinical or histopathological views. Aims: We sought to study the interobserver variability in the histopathological assessment of SA versus NSA, including clinical-pathological considerations. Methods: Two dermatopathologists independently interpreted the same set of 100 specimens (89 patients). The samples were serial sectioned and stained by hematoxylin and eosin and Verhöeff methods. The patients' mean age was 46 years, with 13 being males and 76 females. Results: In 16/100 samples, there was no consensus among the two examiners regarding SA versus NSA (weighted kappa = 0.6583; 95% CI); 3/16 patients were re-biopsied, and in the second sample, consensus was reached. In 76/89 patients, the anatomopathological examination was helpful in defining the SA versus NSA subtype. Of the 84 samples in which there was interobserver agreement, 4 which had been considered scarring in the routine pathological report were re-classified as non-scarring, whereas one biopsy, previously diagnosed as non-scarring, was now considered cicatricial due to the newly found areas of lichenoid inflammation in the infundibular epithelium. Discussion: The ideal scalp examination may require deep serial biopsy sectioning, elastic tissue stain, re-biopsy, and strict clinical-evolutive correlation.

Mohs micrographic surgery in rare cutaneous tumors: a retrospective study at a Brazilian tertiary university hospital.

BACKGROUND: Mohs micrographic surgery is an established technique in the treatment of cutaneous neoplasms. It offers higher cure rates and the main indications are non-melanoma malignant skin tumors. Few studies have been performed on the treatment of rare tumors through this technique. OBJECTIVE: To study rare skin tumors and rare variants of basal cell carcinoma and squamous cell carcinoma submitted to Mohs micrographic surgery in a tertiary service in relation to frequency, disease-free evolution, and applicability of this surgical procedure for this group of tumors. METHODS: This was a retrospective observational study including rare skin tumors and less common variants of basal cell carcinoma and squamous cell carcinoma treated using Mohs micrographic surgery, between October 2008 and April 2021. RESULTS: During the study period, 437 tumors were treated using Mohs micrographic surgery, and 22 (5%) rare skin tumors were selected. The tumors comprised three dermatofibrosarcomas protuberans, two atypical fibroxanthomas, two spiradenomas, two hypercellular fibrohistiocytomas, one primary cutaneous adenocarcinoma, one trichoblastoma, one porocarcinoma, one chondroid syringoma, one cutaneous angiosarcoma, one Merkel cell carcinoma, and one sebaceous carcinoma. Six other cases of rare basal cell carcinoma variants with trichoepitheliomatous differentiation, metatypical basal cell carcinoma, and clear cell squamous cell carcinoma were included. There were no cases of recurrence after an average of six years of follow-up. STUDY LIMITATIONS: This is a retrospective study on rare neoplasms carried out in a single referral center, and this surgical technique isn't widely available in the public service. CONCLUSION: This retrospective case series showed that Mohs micrographic surgery is an appropriate treatment for rare skin tumors. They corresponded to 5% of the tumors treated by the technique during a 12-year-period, with no recurrences identified.

Chronic type 2 reaction possibly triggered by an asymptomatic Bartonella henselae infection in a leprosy patient.

As leprosy and leprosy reactions are the most prevalent infectious cause of physical disability, it is important to commit efforts to better understand these chronic reactions. Infections, even when asymptomatic, can trigger leprosy reactions and Bartonella spp. in turn, can cause chronic infections. We presented a case of a 51-year-old man who was admitted presenting with chronic type 2 leprosy reactions. He had a lepromatous form of leprosy that was histologically diagnosed six months after the onset of signs and symptoms compatible with a chronic type 2 reaction. He reported a history of a previous hepatitis B diagnosis. During a 24-month multidrug therapy (MDT), chronic reactions were partially controlled with prednisone and thalidomide. Thirty-three months following the leprosy treatment, he still experienced chronic reactions, and whole bacilli as well as globi were found on a new skin biopsy. Since coinfections can trigger type 2 reactions and the patient had close contact with animals and ticks, we investigated the presence of a Bartonella sp. infection. Bartonella henselae DNA was detected in a skin fragment obtained before the beginning of the leprosy retreatment. However, even after six months of a second leprosy MDT, he continued to experience type 2 chronic reactions. He was admitted to the hospital to undergo an intravenous antibiotic therapy for 14 days and then complete the treatment per os for ten more weeks. Leprosy reactions improved following the treatment for B. henselae. After completing the MDT treatment, he has been accompanied for sixty months with no signs of leprosy or leprosy reactions. The asymptomatic infection by B. henselaein this patient was considered the putative trigger of chronic leprosy reactions and leprosy relapse.

Tratamento cirúrgico exclusivo de linfoma B primário cutâneo da zona marginal: relato de caso / Exclusive surgical treatment of a primary cutaneous marginal zone lymphoma: a case report

Os linfomas B primários cutâneos (LBPCs) são linfomas não Hodgkin, de acometimento exclusivamente cutâneo, e representam 25% dos linfomas primários cutâneos. São divididos, conforme comportamento clínico, em indolentes e intermediários. O tratamento das formas indolentes inclui a cirurgia, a radioterapia e, em casos extensos, o rituximabe. Relata-se o caso de mulher de 57 anos, com placa única no braço esquerdo, com diagnóstico de LBPC da zona marginal, tratado com excisão com margens de segurança de 5mm, sem recidiva após 36 meses de seguimento. A cirurgia é uma alternativa terapêutica com bom resultado clínico, sem impacto na sobrevida livre da doença.

Primary cutaneous B-cell lymphomas are non-Hodgkin lymphomas presenting only in the skin and represent 25% of all primary cutaneous lymphomas. Based on their clinical behavior, they are classified into indolent and intermediate forms. Treatment of indolent forms includes surgery, radiotherapy, and, in extensive disease, rituximab. We report a case of a 57-year-old woman with a single nodule in the left arm treated with surgical excision with 5-mm security margins, without relapse after 36 months. Surgery is a therapeutic option in these lymphomas without compromising disease-free survival.

Chronic type 2 reaction possibly triggered by an asymptomatic Bartonella henselae infection in a leprosy patient

ABSTRACT As leprosy and leprosy reactions are the most prevalent infectious cause of physical disability, it is important to commit efforts to better understand these chronic reactions. Infections, even when asymptomatic, can trigger leprosy reactions and Bartonella spp. in turn, can cause chronic infections. We presented a case of a 51-year-old man who was admitted presenting with chronic type 2 leprosy reactions. He had a lepromatous form of leprosy that was histologically diagnosed six months after the onset of signs and symptoms compatible with a chronic type 2 reaction. He reported a history of a previous hepatitis B diagnosis. During a 24-month multidrug therapy (MDT), chronic reactions were partially controlled with prednisone and thalidomide. Thirty-three months following the leprosy treatment, he still experienced chronic reactions, and whole bacilli as well as globi were found on a new skin biopsy. Since coinfections can trigger type 2 reactions and the patient had close contact with animals and ticks, we investigated the presence of a Bartonella sp. infection. Bartonella henselae DNA was detected in a skin fragment obtained before the beginning of the leprosy retreatment. However, even after six months of a second leprosy MDT, he continued to experience type 2 chronic reactions. He was admitted to the hospital to undergo an intravenous antibiotic therapy for 14 days and then complete the treatment per os for ten more weeks. Leprosy reactions improved following the treatment for B. henselae. After completing the MDT treatment, he has been accompanied for sixty months with no signs of leprosy or leprosy reactions. The asymptomatic infection by B. henselaein this patient was considered the putative trigger of chronic leprosy reactions and leprosy relapse.

Uncommon Pigmented Carcinoma In Situ: Case Report and Brief Review.

Pigmented lesions of the oral mucosa encompass several benign and malignant conditions that may be a matter of concern under both clinical and histopathological views. We reported a case of a 62-year-old woman, presenting with an asymptomatic, deeply pigmented lesion on the soft palate. On examination, it appeared asymmetrical, with irregular borders and an area of ulceration. A biopsy, taken to rule out melanoma, revealed a pigmented carcinoma in situ. Throughout the tumor thickness, numerous interspersed melanocytes were found that did not extend to neighboring epithelium. These were large, richly dendritic, and presented abundance of melanin granules and small nuclei. Mild melanin incontinence was found. Scanty transfer of pigment to dysplastic epithelial cells was found through Fontana Masson staining. On immunohistochemical analyses, there were pancytokeratin-stained tumor epithelial cells; increased cell proliferation throughout the entire thickness of the tumor was emphasized by Ki-67 immunomarking. P16 was negative. The dendritic cells were selectively stained for S-100, HMB45 and Melan A. Wide spectrum in situ hybridization for human papillomavirus (HPV) was negative. Unfortunately, following diagnosis, the patient refused any treatment option. Pigmented squamous cell carcinoma with melanocyte colonization must be taken into account in the differential diagnosis of pigmented lesions of the oral cavity.

Effects of the lower energy and pulse stacking in carbon dioxide laser skin treatment: an objective analysis using second harmonic generation.

PURPOSE: To evaluate the effect of fractional carbon dioxide (CO2) laser treatment using lower power associated with pulse stacking within collagen fibers, using second harmonic generation microscopy and computerized image analysis. METHODS: Twenty male Wistar rats aging eight weeks were used. Each treatment area received a single-pass CO2 fractional laser with different parameters. The 20 animals were divided into two groups and euthanized after 30 and 60 days. Second harmonic generation images were obtained and program ImageJ was utilized to evaluate the collagen organization within all areas. Collagen anisotropy, entropy and optical density were quantified. RESULTS: Increased anisotropy over time was observed in all four areas, but only reached statistical significance (p = 0.0305) when the mildest parameters were used (area four). Entropy decreased over time in all areas, but without significance(p = 0.1779) in area four. Density showed an overtime increase only in area four, but no statistical significance was reached (p = 0.6534). CONCLUSIONS: When combined, the results obtained in this study regarding anisotropy, entropy and density tend to demonstrate that it is possible to achieve collagen remodeling with the use of lower power levels associated with stacked pulses.

Basal cell carcinoma with compromised margins: retrospective study of management, evolution, and prognosis.

BACKGROUND: Non-melanoma skin cancer is the most common type of malignancy in the Western world, and surgical excision is the preferred approach. The approach adopted in the face of incomplete excisions of basal cell carcinoma is still controversial. OBJECTIVES: To compare the number of tumor recurrences after treatment for incompletely excised basal cell carcinoma. METHODS: Selection and statistical analysis of medical records of patients who had compromised margins after excision of basal cell carcinoma in a tertiary hospital from 2008 to 2013. RESULTS: A total of 120 medical records were analyzed; the mean age was 69.6 years, and 50% of the patients were female. The most prevalent histological type was nodular; the mean size was 1.1 cm, and the tumor location with the highest incidence was the nose. The lateral margin was the most frequently positive. Clinical follow-up was more widely adopted; only 40 patients underwent a second surgery. The total number of patients who had tumor recurrence was 34 (28.3%). Only the malar location significantly influenced the incidence of recurrence (p = 0.02). The mean follow-up time was 29.54 months, with no significant difference between the follow-ups, although 32.9% of the patients followed-up clinically showed recurrence, against only 20% of those who underwent a second surgery. STUDY LIMITATIONS: Mean follow-up time of less than five years and sample size. CONCLUSIONS: The presence of compromised margins does not necessarily imply recurrence. Location, tumor size, histological subtype, previous epithelial tumors, and clinical conditions of the patient must be considered when choosing the best treatment option.

Massive iron overload and acute-on-chronic liver failure in a patient with Diamond-Blackfan anaemia: a case report.

BACKGROUND: Genetic anaemias lead us to reflect on the classic 'trolley dilemma', when there are two choices but neither one is satisfactory. Either we do not treat anaemia and the patient suffers from chronic tiredness and fatigue, or we do treat it through blood transfusions, leading to iron overload, which is a quite harmful consequence. CASE PRESENTATION: We present the case of a 34-year-old woman with Diamond-Blackfan anaemia (DBA). Bone marrow stem cell transplantation had not been accessible during her childhood, so she had been submitted to monthly blood transfusions throughout her life, leading to a hepatitis C virus infection (which was treated, achieving a sustained virological response when she was 18 years old), and secondary haemochromatosis. Despite chelation therapy, diffuse iron deposition was occurring in multiple organs, markedly in the heart and liver. Her serum ferritin was higher than 21,000 ng/mL and transferrin saturation reached 102%. When she faced heart decompensation, this congestive condition led to an acute liver injury overlapping pre-existing hepatic fibrosis. She progressed to haemodynamic and hepatic failure, with clinical features of acute-on-chronic liver failure (ACLF). Despite therapeutic optimisation, she died of respiratory insufficiency. An autopsy was performed and revealed the macroscopic and microscopic findings of a massive iron deposition in the liver, heart, lungs, spleen, bone marrow, thyroid and adrenal glands. We found marked advance of liver fibrosis (chronic damage), as well as necrosis of hepatocytes in zone 3 of the Rappaport acinus (acute damage), supporting the hypothesis of ACLF. The main feature responsible for acute liver decompensation seemed to be heart insufficiency. CONCLUSION: This is the first case reporting the sequence: DBA, multiple blood transfusions, secondary haemochromatosis, advanced liver fibrosis, heart failure, ACLF and death. A multidisciplinary team is essential to care for DBA patients, since there is a significant emotional burden related to the disease, which might impair an effective chelation therapy and lead to severe consequences due to iron deposition.