Assuntos
Síndrome do Nevo Basocelular/diagnóstico , Neoplasias Primárias Múltiplas/diagnóstico , Rabdomioma/diagnóstico , Neoplasias Cutâneas/diagnóstico , Neoplasias Torácicas/diagnóstico , Síndrome do Nevo Basocelular/genética , Síndrome do Nevo Basocelular/cirurgia , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Mutação , Neoplasias Primárias Múltiplas/genética , Neoplasias Primárias Múltiplas/cirurgia , Receptores Patched , Fenótipo , Receptores de Superfície Celular/genética , Rabdomioma/genética , Rabdomioma/cirurgia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/cirurgia , Neoplasias Torácicas/genética , Neoplasias Torácicas/cirurgia , Tomografia Computadorizada por Raios XRESUMO
We report the case of a 5-year-old girl who presented with 2 blue-red atrophic plaques on the left leg as well as subcutaneous nodules that were present since infancy. Although the clinical criteria of neurofibromatosis (NF) were absent, microscopic examination revealed features of a blue-red neurofibroma.
Assuntos
Neurofibromatoses/diagnóstico , Neoplasias Cutâneas/diagnóstico , Criança , Diagnóstico Diferencial , Feminino , Humanos , Perna (Membro) , Neurofibromatoses/patologia , Neoplasias Cutâneas/patologiaRESUMO
Buschke-Ollendorff syndrome (BOS) is an autosomal-dominant disease characterized by the association of connective tissue nevi and osteopoikilosis. It is diagnosed by mutations of proteins involved in bone and connective tissue morphogenesis. We report 2 cases of BOS with different cutaneous clinical patterns. These cases emphasize the importance of heightened suspicion of BOS in selected cases. Identifying BOS can be reassuring for the patient, sparing futile and expensive investigations.
Assuntos
Tecido Elástico/patologia , Osteopecilose/diagnóstico , Osteopecilose/genética , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/genética , Adolescente , Biópsia , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Achados Incidentais , Masculino , Osteopecilose/diagnóstico por imagem , Osteopecilose/patologia , Linhagem , Prognóstico , Radiografia , Irmãos , Dermatopatias Genéticas/diagnóstico por imagem , Dermatopatias Genéticas/patologiaRESUMO
Dermatofibrosarcoma protuberans (DFSP) is a low-grade, mesenchymal, spindle cell tumor. In addition to the classical form characterized by a storiform pattern of tumor cells, pigmented (Bednar's tumor) and myxoid variants can be observed. Classical DFSP and Bednar's tumor are easily diagnosed. The myxoid variant represents a diagnostic challenge. Pigmented and myxoid variants are rare and thus far have never been reported in association in congenital DFSP. We came across a unique DFSP that was, at the same time, congenital, pigmented, and myxoid. The tumor was surgically excised with broad free margins and no recurrence. The differential diagnosis with other entities such as giant cell fibroblastoma, CD34-positive plaque-like dermal fibroma, superficial plaque-like CD34 DFSP, and neurocristic hamartoma is discussed. The recognition of this hybrid variant of congenital DFSP is important to avoid under- or overtreatment.
Assuntos
Dermatofibrossarcoma/diagnóstico , Neoplasias Cutâneas/diagnóstico , Pele/patologia , Células Estromais/patologia , Biópsia , Dermatofibrossarcoma/congênito , Dermatofibrossarcoma/patologia , Diagnóstico Diferencial , Humanos , Lactente , Masculino , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/patologiaAssuntos
Melanoma/secundário , Nevo Pigmentado/patologia , Neoplasias Cutâneas/patologia , Biomarcadores Tumorais/análise , Biópsia , Pré-Escolar , Dermoscopia , Progressão da Doença , Evolução Fatal , Humanos , Melanoma/química , Melanoma/terapia , Nevo Pigmentado/química , Nevo Pigmentado/congênito , Nevo Pigmentado/terapia , Neoplasias Cutâneas/química , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/terapia , Fatores de TempoRESUMO
OBJECTIVE: To investigate the in vivo reactions and the mechanisms of cell death after photodynamic therapy (PDT) for cutaneous carcinomas. Photodynamic therapy is a new treatment modality for nonmelanoma skin cancers. Its effects on target tissue have been well investigated in vitro, where apoptosis appears to be the main effector mechanism, but its effects remain undefined in vivo. DESIGN: Skin biopsy specimens were obtained sequentially after PDT for basal cell carcinoma and in situ squamous cell carcinoma (Bowen disease). Evidence from routine histologic evaluation was compared with a panel of apoptosis-related (TUNEL [terminal deoxynucleotidyl transferase-mediated biotin-deoxyuridine triphosphate nick-end labeling], caspase-3, and Bcl-2) and inflammatory (CD4, CD8, CD20, CD68, and CD56) markers. We used electron microscopy to evaluate cell damage at the ultrastructural level. MAIN OUTCOME MEASURES: Evidence of the mechanisms of tumor cell damage after PDT, detection of histologic and/or immunohistochemical signs of apoptosis, and time course of the tumor destruction and inflammatory reaction. RESULTS: Early epidermal damage and an acute dermal inflammatory response were detected 15 minutes after PDT. In basal cell carcinoma, nodule damage progressed from scant apoptotic cells seen at the dermal-epithelial junction to massive destruction seen after 1 and 2 days. The periphery of the basaloid nodules consistently showed earlier and predominant damage, as demonstrated by the perfect coincidence of histologic and immunohistochemical evidence with apoptotic markers (TUNEL and caspase-3 staining). Fibrosis and lentigolike changes were seen in late biopsy specimens. CONCLUSIONS: This study defines the time course and characteristics of the skin tumor response to PDT. Taken together, our observations suggest that direct damage to cancer cells is the main effector mechanism leading to PDT response. The involvement of apoptosis is demonstrated by the simultaneous appearance of histologic, immunohistochemical, and ultrastructural markers that occur in the early phases of the cutaneous reaction to PDT. These observations could help to develop future refinements of the PDT technique.
Assuntos
Doença de Bowen/tratamento farmacológico , Carcinoma Basocelular/tratamento farmacológico , Fotoquimioterapia , Neoplasias Cutâneas/tratamento farmacológico , Idoso , Idoso de 80 Anos ou mais , Ácido Aminolevulínico/análogos & derivados , Ácido Aminolevulínico/uso terapêutico , Apoptose , Biópsia , Doença de Bowen/metabolismo , Doença de Bowen/patologia , Doença de Bowen/fisiopatologia , Carcinoma Basocelular/patologia , Carcinoma Basocelular/fisiopatologia , Caspase 3/metabolismo , Ativação Enzimática , Feminino , Humanos , Imuno-Histoquímica , Marcação In Situ das Extremidades Cortadas , Masculino , Microscopia Eletrônica , Pessoa de Meia-Idade , Fármacos Fotossensibilizantes/uso terapêutico , Proteínas Proto-Oncogênicas c-bcl-2/metabolismo , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/fisiopatologiaRESUMO
Photodynamic therapy with methyl aminolevulinate (MAL-PDT) is a non-invasive therapy for superficial and nodular basal cell carcinoma (BCC). We performed an open-label trial to evaluate efficacy, safety, tolerability and cosmetic outcome of MAL-PDT in selected patients with superficial and nodular BCCs. Ninety-four superficial and 24 nodular BCCs in 69 patients were treated with 2 to 8 MAL-PDT sessions. Efficacy, safety, tolerability and cosmetic outcome were evaluated at months 1, 3, 6 and 12 after the last MAL-PDT treatment and then every 3 months. One patient discontinued the study for reasons unrelated to study procedures. Complete clinical regression was detected in 84/94 (89.4%) superficial BCCs, and 12/23 (52.2%) nodular BCCs one month after 2 MAL-PDT sessions. No further clinical improvement was observed in either superficial or nodular BCCs with treatment continuation up to a maximum of 8 MAL-PDT sessions. Adverse effects were limited to mild local skin reactions, and cosmetic outcome was rated as excellent or good. Recurrence was observed in 2/84 (2.4%) successfully treated superficial BCCs at 6 and 12 months after treatment discontinuation. Based on the efficacy, tolerability, cosmetic outcome and recurrence rate, our results support the use of MAL-PDT for treatment of superficial BCC and for selected cases of nodular BCC.