RESUMO
Lentigo maligna (LM) is usually diagnosed in sun-damaged skin of elderly patients and a correct excision of the lesion determines a complete healing from the disease. LM is very rare in young patients and, for this reason, it can be commonly misdiagnosed. We describe the case of a locally recurrent LM in a 19-year-old male patient, which initially arose at the age of 17 years. In order to avoid diagnostic pitfalls, clinicians have to put more emphasis on diseases which previously were prerogative only of elderly patients and that now could begin to engage a younger age, according to climate and behavior changes.
Assuntos
Sarda Melanótica de Hutchinson , Neoplasias Cutâneas , Adolescente , Adulto , Idoso , Humanos , Sarda Melanótica de Hutchinson/diagnóstico , Masculino , Neoplasias Cutâneas/diagnóstico , Adulto JovemRESUMO
E7 protein from cutaneous as well as mucosal HPV types can alter NF-κB activity. Conflicting literature data show a HPV-induced up- or down-regulation of the NF-κB pathway in different cell lines. In a previous study we detected the expression of E7 gene of HPV15 in a subungual tumor of a patient affected by incontinentia pigmenti (IP). IP is a rare X-linked genodermatosis in which the IKKγ gene is altered. From observations in transgenic IKKγ defective mice, it was suggested that IKK-deficient cells may undergo rapid hyper-proliferation and apoptosis/necrosis, leading to increased pro-inflammatory cytokine production in the neighboring IKK-positive cells. The objective of this study was to ascertain if beta HPV 15 can alter apoptosis and NF-κB pathway in normal and IKKγ-deficient keratinocytes. The human immortalized keratinocyte cell line (HaCaT), and human primary keratinocyte (HPK) cells were transduced with a retrovirus expressing E6-E7 proteins of HPV 15 and IKKγ was successful silenced mimicking the HPV15 infection and IP. HPV15 E6-E7 gene expression improved NF-κB activity in human keratinocytes even when IKKγ was silenced by siRNA. In IKKγ silenced keratinocyte cells, TNF-α-induced apoptosis was strongly reduced by the expression of HPV15 E6-E7 genes. Beta HPV15 exerted this anti-apoptotic activity by decreasing pro-apoptotic BAK and cleaved Caspase 3 proteins. In conclusion, we can speculate that presence of persistent infection by beta papillomavirus might influence the biological fate of IP by altering NF-κB activation and apoptosis in IKKγ mutated cells, favoring their survival and possibly the development of tumors in the late stage of disease. Taken together, our data reinforce the importance of host genetic background in the pathogenesis of HPV-associated skin lesions.
Assuntos
NF-kappa B , Infecções por Papillomavirus , Apoptose , Humanos , Queratinócitos , PapillomaviridaeAssuntos
Fármacos Dermatológicos/administração & dosagem , Ceratoacantoma/tratamento farmacológico , Ácidos Nicotínicos/administração & dosagem , Administração Cutânea , Idoso , Idoso de 80 Anos ou mais , Feminino , Géis , Humanos , Ceratoacantoma/fisiopatologia , Pessoa de Meia-Idade , Resultado do TratamentoAssuntos
Dermoscopia , Neoplasias Faciais/patologia , Melanoma/patologia , Neoplasias Cutâneas/patologia , Idoso , Biomarcadores Tumorais/análise , Neoplasias Faciais/irrigação sanguínea , Neoplasias Faciais/química , Neoplasias Faciais/diagnóstico por imagem , Humanos , Masculino , Melanoma/irrigação sanguínea , Melanoma/química , Melanoma/diagnóstico por imagem , Neoplasias Cutâneas/irrigação sanguínea , Neoplasias Cutâneas/química , Neoplasias Cutâneas/diagnóstico por imagemRESUMO
Pathologists who find ectopic glands on the glans and/or on the prepuce, often describe them as Tyson's glands. In this regard, the term Tyson's glands can be replaced by two different descriptive expressions: papillomatosis corona penis and ectopic sebaceous glands. A 15-year-old Caucasian male patient presented to our Institute with multiple and asymptomatic circular skin colored-to-yellowish papules at the level of the foreskin, also affecting the shaft of the penis, where they assumed a linear feature. The histological examination revealed hyperplastic and dilated sebaceous glands, while in some areas these glands showed also a direct attachment with the epidermis. A lymphocytic infiltrate was also observed in one of the two specimens. A final diagnosis of linear ectopic sebaceous hyperplasia of the penis was made. According to the current report, the ectopic sebaceous hyperplasia of the penis can have a circular and a linear patter, as well as the presence and the absence of a lymphoid infiltrate. A correct clinical and pathological diagnosis are necessary to avoid unnecessary treatments and worries in the patients. In fact, not infrequently, this condition is confused with dermatological diseases as molluscum contagiosum, epithelioid granuloma, lymphangioma circumscriptum, multiple syringomas, lichen planus, and bowenoid papulosis.
Assuntos
Prepúcio do Pênis/patologia , Doenças do Pênis/diagnóstico , Glândulas Sebáceas/patologia , Adolescente , Diagnóstico Diferencial , Humanos , Hiperplasia/patologia , Masculino , Doenças do Pênis/patologiaAssuntos
Histiocitose/patologia , Histiocitose/radioterapia , Terapia Ultravioleta , Idoso , Humanos , MasculinoRESUMO
Nonmelanoma skin cancers are the most common malignancies in transplant recipients under immunosuppression; nevertheless, appendage tumors also may appear. The onset of several cutaneous neoplasms in transplant patients can cause deterioration in quality of life of these patients. A 62-year-old white woman patient developed several malignant and benign sebaceous neoplasms during an immunosuppressive treatment for a renal transplant. The genetic study showed a mutation in MSH6-eson 1 (c116G>A), without mutations in MLH1 gene and MSH2. A final diagnosis of multiple sebaceous tumors in an immunosuppressed patient without Muir -Torre syndrome was made. The spreading of further cutaneous neoplasms led to a change in immunosuppression: namely, that clinicians suspended tacrolimus and add everolimus. After 2 months, all tumor lesions on the face and on the limbs have disappeared, and no further lesions occurred. Everolimus could represent a valid therapeutical treatment for transplant patients at high risk for cutaneous tumors. A genetic consult and a consequent study of the genetic profile should be performed on each of these patients, to avoid risks of recurrent cutaneous tumors and negative effects on the quality of life.
Assuntos
Everolimo/administração & dosagem , Imunossupressores/administração & dosagem , Imunossupressores/efeitos adversos , Transplante de Rim/efeitos adversos , Neoplasias das Glândulas Sebáceas/induzido quimicamente , Tacrolimo/efeitos adversos , Biópsia , Substituição de Medicamentos , Feminino , Humanos , Hospedeiro Imunocomprometido , Pessoa de Meia-Idade , Neoplasias das Glândulas Sebáceas/diagnóstico , Neoplasias das Glândulas Sebáceas/imunologia , Fatores de Tempo , Resultado do TratamentoRESUMO
Angiosarcoma (AS) is a rare malignant vascular tumor, which affects mainly elderly patients. After the diagnosis, the mean overall survival of patients is 30 months. The variable presentation of the malignancy, the benign appearance of the cutaneous lesions, and the minimal histological changes in early lesions can sometimes delay the correct diagnosis. The authors report a case of an 80-year-old white male patient, with a painless and ecchymotic lesion of the scalp, which histologically showed minimal pathological atypia, conclusive for a diagnosis of AS with minimal histological changes. The authors discuss the main and most emblematic cases of AS initially misdiagnosed for other cutaneous diseases reported in the literature, noting that in some cases, also the histology can be treacherous and a trap for the dermatopathologist. The recent findings on MYC, FLT4 and KDR amplification, and the relative therapeutic perspectives are also discussed. Finally, the authors draw up some pathological cornerstones, which could improve the diagnosis, above all in early lesions with minimal atypia.
Assuntos
Hemangiossarcoma/patologia , Couro Cabeludo/patologia , Neoplasias Cutâneas/patologia , Idoso de 80 Anos ou mais , Humanos , MasculinoRESUMO
Deregulations or mutations of WNT/ß-catenin signaling have been associated to both tumour formation and progression. However, contradictory results concerning the role of ß-catenin in human melanoma address an open question on its oncogenic nature and prognostic value in this tumour. Changes in WNT signaling pathways have been linked to phenotype switching of melanoma cells between a highly proliferative/non-invasive and a slow proliferative/metastatic condition. We used a novel panel of cell lines isolated from melanoma specimens, at initial passages, to investigate phenotype differences related to the levels and activity of WNT/ß-catenin signaling pathway. This in vitro cell system revealed a marked heterogeneity that comprises, in some cases, two distinct tumour-derived subpopulations of cells presenting a different activation level and cellular distribution of ß-catenin. In cells derived from the same tumor, we demonstrated that the prevalence of LEF1 (high ß-catenin expressing cells) or TCF4 (low ß-catenin expressing cells) as ß-catenin partner for DNA binding, is associated to the expression of two distinct profiles of WNT-responsive genes. Interestingly, melanoma cells expressing relative low level of ß-catenin and an invasive markers signature were associated to the TNF-α-induced pro-inflammatory pathway and to the chemotherapy resistance, suggesting that the co-existence of melanoma subpopulations with distinct biological properties could influence the impact of chemo- and immunotherapy.
Assuntos
Carcinogênese/genética , Transição Epitelial-Mesenquimal , Regulação Neoplásica da Expressão Gênica , Melanoma/genética , Via de Sinalização Wnt , beta Catenina/metabolismo , Biomarcadores Tumorais/metabolismo , Linhagem Celular Tumoral , Proliferação de Células , Citometria de Fluxo , Humanos , Imuno-Histoquímica , Fator 1 de Ligação ao Facilitador Linfoide/metabolismo , Melanoma/patologia , Mutação , Invasividade Neoplásica/genética , Estadiamento de Neoplasias , Fator de Transcrição 4/metabolismo , Fator de Necrose Tumoral alfa/metabolismoRESUMO
IgG4-related disease is a recently defined emerging entity. Many different organs may be affected by this disease: pancreas, salivary and lacrimal glands, liver, peritoneum and lung. Also the skin may be affected, as secondary localization, while as primary cutaneous localization it has been rarely described. A male patient presented at our Institute with a two-year history of sclerosing erythematous nodules of the scalp. Histological examination showed a T-lymphocyte (CD3+) infiltrate with interspersed plasmacytoid cells and the interposition of a fibrosclerotic tissue. We found numerous IgG4+ cells at the periphery of the nodular structures, while the serum levels of IgG4 and the remaining blood chemistry analysis were normal. Only a few cases of primitive cutaneous pseudo-lymphomatous IgG4-related disease have been described in the literature. Our case showed the same clinical and histologic features of those previously described; the etiology of IgG4-related diseases remains to be elucidated.
Assuntos
Imunoglobulina G/imunologia , Couro Cabeludo/patologia , Dermatopatias/imunologia , Idoso , Humanos , Imunoglobulina G/sangue , Masculino , Dermatopatias/patologia , Linfócitos T/imunologiaRESUMO
Dermatofibrosarcoma protuberans (DFSP) is an uncommon cutaneous sarcoma with high recurrence rate. Radical surgery is the treatment of choice, although in cosmetically-sensitive areas such as the head and neck, this option is often not pursued. Electrochemotherapy (ECT) is a minimal invasive anti-tumor modality which is increasingly being used to treat skin metastases from different malignancies. A 31-year-old woman presented with subcutaneous local multirecurring DFSP located at the proximal end of the left eyebrow. ECT was offered as a palliative treatment to avoid radical disfiguring surgery. Two days following ECT, the patient was discharged in good general health. Partial tumor regression was appreciable at two months' follow-up by ultrasound and magnetic resonance imaging. At six months, residual fibrotic tissue was observed; at three years, no evidence of the tumour was detected. In our case, ECT achieved good local tumor control with excellent cosmetic results, preserving the patient's quality of life.
Assuntos
Dermatofibrossarcoma/tratamento farmacológico , Eletroquimioterapia , Recidiva Local de Neoplasia/tratamento farmacológico , Doenças Orbitárias/tratamento farmacológico , Neoplasias Cutâneas/tratamento farmacológico , Adulto , Dermatofibrossarcoma/patologia , Feminino , Humanos , Recidiva Local de Neoplasia/patologia , Doenças Orbitárias/patologia , Prognóstico , Qualidade de Vida , Neoplasias Cutâneas/patologiaRESUMO
Phrynoderma is a type of follicular hyperkeratosis located primarily on the extensor surfaces of the extremities. It is most commonly seen in Africa and Southeast Asia, where it is correlated with malnutrition; however, it is rare in developed countries, where it is often the result of malabsorption secondary to pancreatic insufficiency, colectomy, chronic giardiasis, and bariatric surgery. Here, we report a case of a 51-year-old white male patient, who presented to our Institute with a 1-year history of diffuse, reddish-brown asymptomatic papules associated with follicular nodules. In association with cutaneous symptomatology, the patient complained of also having night blindness. The patient, 4 years before, underwent a bariatric surgical treatment, which included a biliopancreatic diversion. Histologic examination of skin biopsy revealed hyperkeratosis and irregular acanthosis of the epidermis in association with dilated follicular infundibulum filled with keratinous material, whereas the laboratory investigations showed hypovitaminosis A. Based on the patient's history and cutaneous biopsy, a final diagnosis of phrynoderma was made. The steady increase of obesity in developed countries results in a relative increase in bariatric surgery. This must involve a multidisciplinary team to manage nutrition deficiencies and prevent possibly important complications, as mentioned in this report.
Assuntos
Cirurgia Bariátrica/efeitos adversos , Desvio Biliopancreático/efeitos adversos , Ceratose/etiologia , Cirurgia Bariátrica/métodos , Humanos , Ceratose/patologia , Masculino , Pessoa de Meia-Idade , Obesidade Mórbida/cirurgia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/patologiaRESUMO
The new analysis of the expression of cell cycle regulators (used in various neoplasms) and the nominal immunohistologic assays still represent valid and feasible diagnostic methods in most pathology practice. We examined 114 paraffin-embedded histologic specimens of melanocytic cutaneous lesions. The primary objective of this study was to explore diagnostic potential of the two important cell cycle regulators, p16 and Ki67, also evaluating the variations of expression by use of a semi quantitative graded scale. Another aim was to study the hypothetical correlation between p16 expression (in melanocytic and non-melanocytic lesions) and two independent variables, i.e. patient age and anatomical sites (sun exposed or non-sun exposed) of the lesions. Cell population was considered positive for antibody-specific p16 and Ki67 when at least 33% of the cells showed well-defined nuclear and/or cytoplasmic staining. A special p16 and Ki67 trend was found only in Spitz nevus, atypical Spitz nevus and invasive malignant melanoma (MM). No discriminative values were found regarding other lesions (junctional melanocytic nevus, MM in situ, superficially spreading MM, non-melanoma skin cancers). p16 was over-expressed on sun exposed sites and hypo-expressed on non-sun exposed areas, yielding a statistically significant correlation (p<0.03). According to patient age, p16 was over-expressed in patients aged ≥61 and hypo-expressed in patients aged ≤60 (p=0.09).
Assuntos
Regulação Neoplásica da Expressão Gênica/fisiologia , Antígeno Ki-67/metabolismo , Melanoma/metabolismo , Proteínas de Neoplasias/metabolismo , Neoplasias Cutâneas/metabolismo , Adulto , Fatores Etários , Inibidor p16 de Quinase Dependente de Ciclina , Exposição Ambiental , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nevo de Células Epitelioides e Fusiformes/metabolismo , Nevo Pigmentado/metabolismo , Luz SolarRESUMO
BACKGROUND: Squamous cell carcinoma of the penis (SCCP) is the most common penis neoplasia, favoured by phimosis, HPV infection and scleroatrophic lichen. The classic therapy is surgical with anatomic demolition, which often causes important psychological problems. Other non-demolitive therapies can be utilized, such as radiotherapy, brachytherapy and topical medical treatment. OBJECTIVES: We propose a new non-invasive therapy called "Dermo beta brachytherapy (DBBT) with 188-Re" in which a synthetic inert resin-matrix containing a radioactive beta-emitting isotope is applied on the surface of the tumor lesion. MATERIALS AND METHODS: A total of 15 patients with a histologically confirmed diagnosis of SCCP were enrolled for treatment (DBBT). RESULTS: Of the 15 patients, 12 healed, 1 was lost at follow-up and 2 did not respond to therapy. CONCLUSION: The results indicate that DBBT is an effective treatment for SCC of the penis, sparing the anatomical integrity of the organ, and allowing normal sexual activity.