RESUMEN
We present a case of squamous cell carcinoma arising in a naevus sebaceous of Jadassohn (NSJ) in a 15-year-old girl. Both these events are rare, and this is the first reported case of a squamous cell carcinoma developing in NSJ in a child. The previous literature on sebaceous naevi and malignancies arising thereof is reviewed and discussed. Early excision is recommended in any cases of nodular change in sebaceous naevi in all age groups.
Asunto(s)
Carcinoma de Células Escamosas/cirugía , Neoplasias de Cabeza y Cuello/cirugía , Nevo/cirugía , Cuero Cabelludo , Neoplasias Cutáneas/cirugía , Adolescente , Carcinoma de Células Escamosas/complicaciones , Carcinoma de Células Escamosas/patología , Femenino , Neoplasias de Cabeza y Cuello/complicaciones , Neoplasias de Cabeza y Cuello/patología , Humanos , Nevo/complicaciones , Nevo/patología , Neoplasias de las Glándulas Sebáceas/complicaciones , Neoplasias de las Glándulas Sebáceas/patología , Neoplasias de las Glándulas Sebáceas/cirugía , Neoplasias Cutáneas/complicaciones , Neoplasias Cutáneas/patología , Resultado del TratamientoRESUMEN
A 71-year-old lady underwent successful excision of a haemangioma of the frontal sinus, via an osteoplastic flap approach. Haemangioma of the paranasal sinuses is an extreme rarity. A case is presented and the literature reviewed.
Asunto(s)
Seno Frontal , Hemangioma/patología , Neoplasias de los Senos Paranasales/patología , Anciano , Femenino , Hemangioma/cirugía , Humanos , Neoplasias de los Senos Paranasales/cirugía , Tomografía Computarizada por Rayos XRESUMEN
Lymphatic malformations are a type of vascular anomaly. They are uncommon and can present in various ways. Associated hypertrophy of the soft tissue and bone have been described in association with deep lymphatic connections, but late-onset localised fat hypertrophy in the absence of deep connections has not been previously described. We present a case of cutaneous lymphatic malformation of the thigh and buttock with secondary fat hypertrophy. The lesion had been present since childhood but enlarged rapidly during adolescence. MRI excluded deep connections and lipoma. Liposuction was used to debulk the area with a satisfactory result.
Asunto(s)
Tejido Adiposo/patología , Sistema Linfático/anomalías , Adulto , Femenino , Humanos , Hipertrofia/diagnóstico , Hipertrofia/etiología , Hipertrofia/cirugía , Pierna , Lipectomía/métodos , Imagen por Resonancia Magnética/métodos , Resultado del TratamientoRESUMEN
It has been postulated that deletion of genes on chromosome 9 is important in the development of malignant melanoma. In this study, we have investigated this hypothesis by analysing the numerical complement of chromosomes 9, 17 and X by interphase cytogenetics using peri-centromeric repeat probes on paraffin sections from 15 thick melanomas. Three cases showed no relative loss or gain of chromosomes. Two cases showed gain of chromosome 17, and one case loss of chromosome 17 relative to chromosomes 9 and X. Relative chromosome 9 loss was identified in 9 cases (60%). Two of these were monosomic for chromosome 9 with a normal complement of chromosomes 17 and X and six were tetrasomic for chromosome 17 with duplication of chromosome X: chromosome 9 was disomic in five of these cases and trisomic in one. The final case showed loss of both chromosomes 9 and 17 relative to X. The chromosome patterns obtained imply that loss of chromosome 9 frequently takes place before tetraploidisation. This is in keeping with the hypothesis that loss of chromosome 9 is not a late event in melanocyte transformation. Extension of these studies to thin melanomas, in situ melanomas and dysplastic naevi will refine further the point at which these changes occur.
Asunto(s)
Aberraciones Cromosómicas/genética , Cromosomas Humanos Par 9/genética , Melanoma/genética , Neoplasias Cutáneas/genética , Transformación Celular Neoplásica/genética , Deleción Cromosómica , Cromosomas Humanos Par 17/genética , ADN de Neoplasias/análisis , Femenino , Humanos , Hibridación in Situ , Interfase , Masculino , Melanoma/patología , Neoplasias Cutáneas/patología , Cromosoma X/genéticaRESUMEN
Karyotypic analysis by direct demonstration of DNA sequences in interphase nuclei has been termed interphase cytogenetics and can be applied to a wide variety of cellular material, including paraffin-embedded tissue, allowing detection of both numerical and structural chromosome aberrations. The principal established method in the fluorescence in situ hybridization (FISH) technique, but more recently primed in situ labelling (PRINS) has been employed, as illustrated in an accompanying paper in this issue of the Journal. Where there are defining cytogenetic abnormalities, as is the case for the detection of fetal numerical chromosome abnormalities and in some paediatric and soft tissue tumours, this approach has clear diagnostic applicability. In other circumstances, such as the investigation of most solid tumours, this technique is largely of research interest but, particularly with application to paraffin sections, in providing valuable information on the morphological distribution of molecular changes in both invasive and 'pre-invasive' lesions. Continued technical refinement and research application of this methodology will lead not only to greater clinical applicability but also to improved understanding of the pathobiology of tumours.