Presence of Merkel cell polyomavirus DNA and large-T antigen in keratinocyte carcinomas and its correlation with immunohistochemical markers p16, p53 and ki67.

BACKGROUND: Merkel cell polyomavirus (MCPyV), a human polyomavirus that is unequivocally linked to merkel cell carcinoma (MCC), has been found in association with keratinocytes carcinomas (KC), especially basal cell carcinoma (BCC) and cutaneous squamous cell carcinoma (cSCC). Nevertheless, there is scarce information about the possible involvement of MCPyV in the development of KC. OBJECTIVES: To assess the presence of MCPyV DNA and Large-T Antigen (LT-Ag) via Polymerase Chain Reaction (PCR) and Immunohistochemistry (IHC) in cases of KC, and to correlate its presence with immunohistochemical markers p16, p53, and ki67, tumor type and subtype, sun-exposed location, and epidemiological data. METHODS: The prevalence of MCPyV DNA, LT-Ag, and immunohistochemical markers p16, p53, and ki67 was assessed by PCR and Immunohistochemistry (IHC) in 127 cases of KC, these results were correlated with tumor type and subtype, sun-exposed location, and epidemiological data. RESULTS: The MCPyV DNA was detected in 42.57% (43 of 101) cases by PCR, the LT-Ag was detected in 16.4% (20 of 122) of cases, p16 in 81.5% (97 of 119), p53 in 66.4% (83 of 125), ki67 in 89% (73 of 82). No correlation between MCPyV LT-Ag and DNA confronted with tumor type, subtype, location site, and immunohistochemical markers was found. A single correlation between the MCPyV LT-Ag and cSCC tumors and peri-tumoral lymphocyte cells was noted. STUDY LIMITATIONS: Further steps need to be taken to better evaluate the MCPyV influence and its possible role in KC carcinogenesis, as the evaluation of the virus genome state, the gene sequence that encodes LT-Ag in the KC tumor cells, and in situ hybridization for viral DNA or RNA in these cells. CONCLUSIONS: Despite the frequent detection of MCPyV in KC, the data available so far does not support the hypothesis of a causal relationship between them.

Clinical, dermoscopic, and histopathologic findings of hidroacanthoma simplex: a case report and literature review.

Hidroacanthoma simplex (HS) is a rare benign intraepidermal tumor that originates in the acrosyringial portion of the eccrine duct. Clinically, they are well-defined lesions, flat or verrucous brownish plaque, and can be misdiagnosed with other types of benign or malignant tumors. Dermoscopy reveals small black globules and fine scales. The histopathology of HS is characterized by typical intraepidermal nests, well-circumscribed, composed of uniform basaloid and poroid cells within the acanthotic epidermis with cystic or ductal structures in the nests. We report a case of HS that changes its clinical appearance, dermoscopy, and histopathologic findings over time. Differential diagnoses included seborrheic keratosis, Bowen disease, melanoma, and malignant HS.

Merkel cell polyomavirus and its etiological relationship with skin tumors.

Viruses have been frequently identified in several human neoplasms, but the etiological role of these viruses in some tumors is still a matter of controversy. Polyomaviruses stand out among the main viruses with oncogenic capacity, specifically the Merkel cell polyomavirus (MCPyV). Recent revisions in the taxonomy of polyomaviruses have divided the Polyomaviridae family into six genera, including 117 species, with a total of 14 currently known human-infecting species. Although the oncogenicity of polyomaviruses has been widely reported in the literature since 1950, the first description of a polyomavirus as an etiological agent of a neoplasm in humans was made only in 2008 with the description of MCPyV, present in approximately 80% of cases of Merkel cell carcinoma (MCC), with the integration of its genome to that of the tumor cells and tumor-specific mutations, and it is considered the etiological agent of this neoplasm since then. MCPyV has also been detected in keratinocyte carcinomas, such as basal cell carcinoma and squamous cell carcinoma of the skin in individuals with and without immunosuppression. Data on the occurrence of oncogenic viruses potentially involved in oncogenesis, which cause persistence and tissue injury, related to the Merkel cell polyomavirus are still scarce, and the hypothesis that the Merkel cell polyomavirus may play a relevant role in the genesis of other cutaneous carcinomas in addition to MCC remains debatable. Therefore, the present study proposes to explore the current knowledge about the presence of MCPyV in keratinocyte carcinomas.

Merkel cell polyomavirus and its etiological relationship with skin tumors

Abstract Viruses have been frequently identified in several human neoplasms, but the etiological role of these viruses in some tumors is still a matter of controversy. Polyomaviruses stand out among the main viruses with oncogenic capacity, specifically the Merkel cell polyomavirus (MCPyV). Recent revisions in the taxonomy of polyomaviruses have divided the Polyomaviridae family into six genera, including 117 species, with a total of 14 currently known human-infecting species. Although the oncogenicity of polyomaviruses has been widely reported in the literature since 1950, the first description of a polyomavirus as an etiological agent of a neoplasm in humans was made only in 2008 with the description of MCPyV, present in approximately 80% of cases of Merkel cell carcinoma (MCC), with the integration of its genome to that of the tumor cells and tumor-specific mutations, and it is considered the etiological agent of this neoplasm since then. MCPyV has also been detected in keratinocyte carcinomas, such as basal cell carcinoma and squamous cell carcinoma of the skin in individuals with and without immunosuppression. Data on the occurrence of oncogenic viruses potentially involved in oncogenesis, which cause persistence and tissue injury, related to the Merkel cell polyomavirus are still scarce, and the hypothesis that the Merkel cell polyomavirus may play a relevant role in the genesis of other cutaneous carcinomas in addition to MCC remains debatable. Therefore, the present study proposes to explore the current knowledge about the presence of MCPyV in keratinocyte carcinomas.

Frequency of lichen sclerosus in children presenting with phimosis: A systematic histological study.

BACKGROUND: The incidence of preputial lichen sclerosus (PLS) among children presenting with phimosis varies from 10 to 95%, depending on the age, the protocol for the treatment of pediatric phimosis, the method of diagnosis (clinical versus histological), and case mix (congenital versus acquired phimosis). OBJECTIVE: PLS may not be clinically obvious. Our aim is to show that a systematic histological examination of the prepuce may diagnose PLS in clinically unsuspected cases. METHODS: Prospective observational study of the histology of all prepuces resected from boys undergoing circumcision for phimosis but not clinically suspected to have PLS. RESULTS: PLS was diagnosed histologically in 22 boys (32%). Boys with PLS were significantly older (mean 8.4 versus 4.7 years old). Diagnosis of PLS was not related to the degree of phimosis (summary figure). In three patients (grade 4 phimosis) glans discoloration was observed during surgery, and all had PLS. Follow up for boys found to have PLS ranged from 1 to 10 years. One patient developed recurrent phimosis, attributed to inappropriate conservative resection, and required further surgery. There were no cases of meatal stenosis. DISCUSSION: Subtle cases of PLS may be difficult to detect clinically. Children are frequently asymptomatic, except for being unable to retract the prepuce. Physical examination has a low negative predictive value for the diagnosis of PLS. Complete removal of the prepuce with permanent glans exposure is regarded as essential to cure PLS and to avoid recurrent phimosis, but our patients were treated with partial circumcisions for cultural reasons. Only one needed reoperation for recurrent phimosis. CONCLUSION: Histological PLS was present in approximately 1/3 of boys with phimosis, frequently without typical manifestations. Those patients may be cured with partial circumcisions.

A Rare Case of Lesion in the Vulva: Pigmented Apocrine Hamartoma.

ABSTRACT: Apocrine hamartoma is a rare benign neoplasm. The histology is characterized by an excess of apocrine glands located predominantly in the reticular dermis. Pigmented apocrine hamartoma represents a histopathological variation of apocrine hamartoma containing tubules and linear cysts covered by apocrine cells on the inside with melanin and on the outside with myoepithelial cells. At this time, 4 cases of this pathology have been described. This case report aims to present a case of pigmented apocrine hamartoma of the vulva in a young patient, emphasizing that while occurrence is rare, it must be considered when diagnosing a pigmented lesion of the vulva in young patients.

First report of hemosiderotic adenodermatofibroma in Brazil / Primeiro relato de adenodermatofibroma hemossiderótico no Brasil

ABSTRACT Hemosiderotic adenodermatofibroma is a recently recognized lesion, characterized by a dermal nodule with cystic structures of an apocrine gland, surrounded by a dermatofibroma-like stroma with hemosiderotic macrophages. We present the first case report of this entity in Brazil together with representative images, in addition to a review on the subject and discussion about the apocrine origin of this lesion.

RESUMEN El dermatoadenofibroma hemosiderótico es una lesión recientemente descrita, caracterizada por un nódulo dérmico con estructuras quísticas de una glándula apocrina, rodeado por un estroma del tipo dermatofibroma con macrófagos hemosideróticos. Presentamos el primer reporte de caso de esa entidad en Brasil, junto a imágenes representativas, además de una revisión del tema y discusiones acerca del origen apocrina de esa lesión.

RESUMO Adenodermatofibroma hemossiderótico é uma lesão recentemente conhecida, caracterizada por um nódulo dérmico com estruturas císticas de uma glândula apócrina, circundado por um estroma do tipo dermatofibroma com macrófagos hemossideróticos. Apresentamos o primeiro relato de caso dessa entidade no Brasil junto a imagens representativas, além de uma revisão do assunto e discussões sobre a origem apócrina dessa lesão.

Syringoid Eccrine Carcinoma in the Abdominal Wall: A Rare Case Report and Literature Review.

BACKGROUND Syringoid eccrine carcinoma (SEC) is an extremely rare malignant adnexal neoplasm derived from eccrine sweat glands, of unknown pathogenesis. We report a case of this rare entity presenting in the abdomen, which is the only one reported in this area and the only case of SEC in a patient with so many comorbidities. CASE REPORT A 58-year-old black male from Brazil reported a nodular lesion in the abdomen with a progressive increase in size and pain and local burning sensation. The histopathological examination showed a syringoid eccrine carcinoma. CONCLUSIONS We present a rare case of SEC and did an extensive literature review in order to describe the clinical characteristics, histopathological findings, immunohistochemical profile, treatments, and difficulties found in the diagnosis of this tumor. To avoid misdiagnosis, we gave special attention to biopsy quality.

Fibrosing Alopecia in a Pattern Distribution (FAPD) in 16 African-Descent and Hispanic Female Patients: A Challenging Diagnosis.

BACKGROUND: Fibrosing alopecia in a pattern distribution (FAPD) has only been described in Caucasian patients, and it is not clear whether it can develop in dark-skin ethnicities. MATERIALS AND METHODS: Sixteen Brazilian female patients, 12 of African descent and 4 Hispanic, with progressive scarring alopecia in a pattern distribution were analyzed. RESULTS: Dermatoscopic features showed perifollicular erythema and scaling (14/16), hair fiber diameter diversity (16/16), loss of follicular ostia (16/16), and follicular keratosis (3/16). Late stages showed a honeycomb pigmented network (12/16), a hyperpigmented perifollicular halo (12/16), and small white patches (12/16). Histopathological features showed lichenoid perifollicular infiltrate (14/16), follicular miniaturization (16/16), concentric fibrosis (16/16), perifollicular lymphocytic infiltrate (16/16), and vellus hair involvement (10/16). Premature desquamation of the inner root sheath was found in 11 patients. CONCLUSIONS: The concomitant findings of cicatricial pattern hair loss (with or without the recess of the front hair line), hair fiber diversity, perifollicular erythema and scaling, a whitish perifollicular halo, and histological findings of androgenetic alopecia, with vacuolar interface alteration of the upper portion of the follicular epithelium, are the main key features to suggest the diagnosis of FAPD. FAPD is a possible diagnosis in patients of color with cicatricial pattern hair loss. Clinical, dermatoscopic, and histopathological examination allow a proper final differential diagnosis.

Lichenoid folliculitis of the scalp in four patients with ichthyosiform skin disorders and cicatricial alopecia.

Ichthyosis is a heterogeneous group of inherited skin disorders characterized by a defect of keratinization. Patients diagnosed with lamellar ichthyosis (LI) and some ichthyosiform syndromes, such as the Conradi-Hünermann-Happle syndrome (CHHS), usually present with hair loss. Even though only few dermatologic complaints carry as many emotional overtones as hair loss, there are very few data available in the literature regarding scalp histopathological features in ichthyosis. A better understanding of scalp changes in such context may result in new therapeutic strategies that in turn would enhance patients' self-esteem and quality of life. The aim of this paper is to describe the scalp histopathological findings of four young patients with cicatricial alopecia: three diagnosed as having LI and the fourth with CHHS.

Hemophagocytic lymphohistiocytosis, a rare condition in renal transplant - a case report / Linfohistiocitose hemofagocítica, condição rara no transplante renal - relato de caso

Abstract Hemophagocytic lymphohistiocytosis (HLH) is an uncommon and life-threating condition characterized by major immune activation and massive cytokine production by mononuclear inflammatory cells, due to defects in cytotoxic lymphocyte function. It is even more unusual in renal transplant recipients, in which it is often associated with uncontrolled infection. The mortality is high in HLH and differential diagnosis with sepsis is a challenge. The approach and management depend on the underlying trigger and comorbidities. We report a case of a 50-year-old renal transplant female admitted with fever and malaise 3 months post-transplant and presenting anemia, fever, hypertriglyceridemia, high levels of serum ferritin, and positive CMV antigenemia. Urine was positive for decoy cells and BKV-DNA. Graft biopsy showed CMV nephritis. Both blood and urine cultures where positive for E. coli. Hemophagocytosis was confirmed by bone marrow aspiration. Immunosuppression was reduced, and the patient received high-dose intravenous immunoglobulin and dexamethasone, with complete response after 3 weeks. We highlight the importance of early diagnosis and proper management of a rare and serious condition in a renal transplant patient, which can allow a favorable clinical course and improve survival rate.

Resumo A linfohistiocitose hemofagocítica (LHH) é uma condição incomum e potencialmente fatal, caracterizada por importante ativação imunológica e produção maciça de citocinas por células mononucleares inflamatórias, devido a defeitos na função linfocitária citotóxica. É ainda mais incomum em receptores de transplante renal, nos quais está freqüentemente associada a infecções não controladas. A mortalidade da LHH é alta, e o diagnóstico diferencial com sepse é um desafio. A abordagem e o tratamento dependem do gatilho e das comorbidades subjacentes. Relatamos o caso de uma paciente transplantada renal com 50 anos de idade, admitida com febre e mal-estar 3 meses após o transplante, apresentando anemia, febre, hipertrigliceridemia, níveis elevados de ferritina sérica e antigenemia positiva para CMV. A urina mostrou positividade para células decoy e BKV-DNA. A biopsia do enxerto mostrou nefrite por CMV. Ambas as culturas de sangue e urina foram positivas para E. coli. A hemofagocitose foi confirmada pelo aspirado de medula óssea. A imunossupressão foi reduzida e a paciente recebeu altas doses de imunoglobulina intravenosa e dexametasona, com resposta completa após 3 semanas. Destaca-se a importância do diagnóstico precoce e do manejo adequado de uma condição rara e grave em um paciente transplantado renal, o que pode permitir um curso clínico favorável e melhorar a taxa de sobrevida.

Hemophagocytic lymphohistiocytosis, a rare condition in renal transplant - a case report.

Hemophagocytic lymphohistiocytosis (HLH) is an uncommon and life-threating condition characterized by major immune activation and massive cytokine production by mononuclear inflammatory cells, due to defects in cytotoxic lymphocyte function. It is even more unusual in renal transplant recipients, in which it is often associated with uncontrolled infection. The mortality is high in HLH and differential diagnosis with sepsis is a challenge. The approach and management depend on the underlying trigger and comorbidities. We report a case of a 50-year-old renal transplant female admitted with fever and malaise 3 months post-transplant and presenting anemia, fever, hypertriglyceridemia, high levels of serum ferritin, and positive CMV antigenemia. Urine was positive for decoy cells and BKV-DNA. Graft biopsy showed CMV nephritis. Both blood and urine cultures where positive for E. coli. Hemophagocytosis was confirmed by bone marrow aspiration. Immunosuppression was reduced, and the patient received high-dose intravenous immunoglobulin and dexamethasone, with complete response after 3 weeks. We highlight the importance of early diagnosis and proper management of a rare and serious condition in a renal transplant patient, which can allow a favorable clinical course and improve survival rate.

Cutaneous myeloid sarcoma associated with chronic myeloid leukemia.

Myeloid sarcoma is an extramedullary tumor of malignant myeloid cells often associated with acute myeloid leukemia, chronic myeloproliferative disorders and myelodysplastic syndromes. The skin is one of the most commonly affected sites. We report a rare case of cutaneous myeloid sarcoma associated with chronic myeloid leukemia.