A patient with atherosclerosis and livedo reticularis.
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Aged↗
Biomedical subjects
C Mira
Publications and source records attributed to C Mira.
Systemic sarcoidosis with spleen involvement.
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Adult↗
Spindle cell hemangioendotheliomas associated with multiple skeletal enchondromas: a variant of Maffucci's syndrome.
An unusual case of Maffucci's syndrome confined to an extremity with an additional superficial lymphangioma in the same limb is described. The patient, a 47-year-old woman, presented with several painful subcutaneous spindle cell hemangioendotheliomas (SCHs) and multiple lytic bone lesions, some calcified, in the left leg. She has been followed for two years and continues to do well. The combination of SCHs and multiple enchondromas (ENCHs) should be searched in any patient who presents with SCHs or multiple ENCHs, because there is a significant risk of malignant transformation.
Bone Neoplasms↗
APC intragenic haplotypes in familial adenomatous polyposis.
Genetic epidemiological studies are useful for the knowledge of the association of markers and genes involved in diseases. In the present work, we studied the frequency of four adenomatous polyposis coli intragenic RFLP markers often used in risk evaluation in a population of 10 familial adenomatous polyposis patients from 10 unrelated Portuguese familial adenomatous polyposis families not sharing the same mutation, and in a population of 55 unrelated healthy Portuguese volunteers. We compared the frequency obtained to normal and affected populations and to results already reported in other populations. We observed allelic frequencies for the Portuguese population that agree with the published ones. The intragenic polymorphisms show strong gametic disequilibrium suggesting little recombination between them. We observed haplotype frequencies significantly different in patients and controls. The gametic disequilibrium may be due to a common founder for a proportion of apparently unrelated probands.
Adenomatous Polyposis Coli↗
Cutaneous angiomyolipoma.
Extrarenal angiomyolipomas are rare lesions. An angiomyolipoma located on the right ear lobe in a 49-year-old man is reported. Pathologic examination showed a well-circumscribed subcutaneous nodule, 2 cm in diameter. The components of the tumor were confirmed by immunohistochemistry. Reactivity for HMB-45 was negative. A review of the twelve published cases, including the present, reveals that the patients age ranged from 33 to 77 years (mean 53.6), the male/female ratio was 11.1. The tumors were solitary, asymptomatic, noninvasive, located most commonly in acral skin or on the ear. The clinical impression is that of a cyst, a lipoma or a vascular tumor. Signs of tuberous sclerosis were absent in all cases. In contrast to the renal form, the cutaneous angiomyolipoma is a tumor differing in sex predominance, clinical associations, circumscription, solitariness, and HMB-45 immunoreactivity. Distinction from other mesenchymal lesions depends on recognition of traditional histologic criteria.
Angiomyolipoma↗
Dermatofibroma with granular cells.
A new histologic variant of dermatofibroma, only briefly alluded to in dermatological literature is reported. This tumor was located in the back of a 24-year-old man. It was present for about 2 years and had a history of trauma 2 months before excision. The lesion showed similar characteristics to those of conventional dermatofibroma as well as the presence of groups of granular cells identical to those seen in granular cell tumors. It is important to recognize dermatofibroma with granular cells because it may be confused with a variety of benign or malignant soft tissue tumors containing similar granular cells that entail different significance or prognosis. The immunohistochemical study supports a granular cell change in a dermatofibroma instead of a granular cell tumor that has been traumatized, with secondary formation of a dermatofibroma reaction.
Adult↗
Presymptomatic diagnosis in Portuguese FAP families using intragenic RFLPs and (CA)n flanking markers by fluorescence based semiautomated DNA analysis.
Owing to the large size of the APC gene, responsible for familial adenomatous polyposis, direct screening for individual mutations is not a practical approach. In the present study we establish the methodology of fluorescence based semi-automated DNA analysis to perform presymptomatic diagnosis of members at risk from 11 Portuguese FAP families with three (CA)n markers flanking the APC gene, MBC, CB26, and YN5.64, and four intragenic RFLPs. Haplotypes were constructed on the basis of individual genotypes and their segregation through generations were followed. The study was informative for 12% of subjects using only intragenic RFLPs and increased to 90% when we used the three (CA)n flanking markers. We report two of the 11 families under study in our laboratory and show recombinant events leading to a precise localisation of the CB26 marker between D5S82 and the APC gene. In one family there was a loss of (CA) units of one allele of the CB26 marker from an unaffected mother to her son.
Adenomatous Polyposis Coli↗
Glandular inclusions in inguinal hernia sacs: a clinicopathological study of six cases.
Glandular inclusions in inguinal hernia sacs are not frequent. We present six cases of inguinal hernia with this finding, which represents an incidence of 2.6% in males and shows a predominance in the prepubertal stage. Five patients showed cryptorchidism and two cases were related to congenital malformations of the single umbilical artery type and 47,XY chromosome disorder with chromosomal marker. The most important differential diagnosis must be made with normal histological structures such as the vas deferens or epididymis. The mean diameter of the inclusions was 0.1988 mm and there was a significant difference in size between the inclusions and the vas deferens, but not the epididymis. Differentiation from the latter is based on the absence of a well-developed muscular coat in the wall of the inclusions. It is important to recognize that these inclusions can occur in hernia sacs because of the clinical and medicolegal implications that arise if they are confused with true epididymis or vas deferens. They may arise from paratesticular embryonal remnants.
Actins↗