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PubMed1983

Liposarcoma occurring in children. An analysis of 17 cases and review of the literature.

Liposarcoma, one of the most common malignant mesenchymal neoplasms affecting adults, has rarely been documented to arise in children. Therefore, in this retrospective study, the clinicopathologic features of 17 liposarcomas retrieved from the files of the Armed Forces Institute of Pathology (AFIP) which occurred in patients between the ages of eight months and 15 years were analyzed. In contrast to the slight male prevalence verified in most studies of adult liposarcoma, this group of 17 cases disclosed a distinct female majority (65%). The tumor had a predilection for the lower extremity (41%), particularly the thigh; the remaining examples, which included cases from the neck, back, axilla, buttock, and forearm, reflected a seemingly random anatomic distribution. The retroperitoneum, a very common primary location for adult liposarcoma, accounted for only one example in the group. The histologic variants of liposarcoma coincided with the types delineated in most generally accepted classifications employed for liposarcoma in adults, but their distribution varied considerably from that found in most extensive series of adult liposarcomas. Specifically, there were 13 myxoid liposarcomas, two well-differentiated liposarcomas, and one each of the round cell and mixed variants. Follow-up information, obtained for 15 cases, revealed local recurrence in three patients, one of whom eventually died as a result of direct tumor extension into the pleural cavity.

Adolescent↗
PubMed1986

Trabecular (Merkel cell) carcinoma of the skin. Treatment of primary, recurrent, and metastatic disease.

Four new patients with trabecular (Merkel cell) carcinoma of the skin are described, and an additional 76 patients from the literature are reviewed. The mean age of the combined group of patients was 68; 84% were 60 years or older. Primary tumors appeared most frequently on the head and neck (44%), leg (28%), arm (16%), or buttock (9%). No primary tumor appeared on the trunk. The rate of local recurrence was 36%, regional metastatic disease, 53%; distant metastases, 28%; and death due to metastatic tumor (minimally), 25%. It appears that trabecular carcinoma of the skin is more aggressive and lethal than previously thought. The authors recommend that patients with this tumor undergo wide resection of the primary site and, in healthy patients, prophylactic regional node dissection. Both radiation therapy and chemotherapy are effective in palliating unresectable disease.

Adenocarcinoma↗
PubMed1986

Malignant fibrous histiocytoma of soft tissue in childhood.

Seven children aged 6 months to 11 years with malignant fibrous histiocytoma, a type of sarcoma of soft tissues, have been treated at the Children's Hospital of Philadelphia from January 1975 through July 1983. The primary tumor arose in the head and neck region in three patients, the chest wall in two patients and the pelvis or buttock in one patient each. Operative management consisted of complete tumor removal in the two patients with chest wall tumors, and biopsy only in the remaining five children. Afterward, all seven patients were treated with a multiple-agent chemotherapy program consisting of vincristine, dactinomycin, and cyclophosphamide for two years, with or without Adriamycin (doxorubicin). The five patients with residual tumor also received radiation therapy (RT) in doses of 1500 to 5500 rad. The two children with localized, completely excised sarcoma are continuously free of tumor at 1.4 and 9 years after initiation of treatment. Of the five with residual sarcoma, three had a complete response to radiation and chemotherapy, and two of them are free of recurrence at 4 and 5 years, respectively. In the three remaining children, the tumor spread regionally into the central nervous system or distantly into the lungs, subcutaneous tissues, and liver. Childhood malignant fibrous histiocytoma of soft tissue appears to be similar to childhood rhabdomyosarcoma in its modes of spread and response to management. Operative removal is the key to successful therapy. The roles of multiple-agent chemotherapy and RT remain to be defined. Adriamycin appears to be the most promising single agent. In the absence of concrete data, it seems prudent to follow the same guidelines for irradiation as those used for other soft tissue sarcomas of childhood.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1989

Clinicopathologic spectrum of cutaneous manifestations in systemic follicular lymphoma. A study of 11 patients.

Follicular lymphoma is rarely diagnosed on the basis of only a cutaneous biopsy. Eleven patients with primary follicular lymphoma of lymph nodes who developed skin lesions were studied. Skin lesions involved the scalp, head and neck, trunk, and buttocks and were small cleaved cell type in four cases, large cell type in three cases, and mixed type in four cases. The follicular pattern with a bottom-heavy distribution was identified in only six of the 11 cases. One case showed a nodular, perivascular pattern in the deep dermis and subcutaneous tissue. Four cases were characterized by a diffuse pattern of lymphocytic infiltrate. One patient with a diffuse pattern had an isolated subepidermal band of lymphoma cells representing primary cutaneous T-cell lymphoma. Cutaneous involvement by lymphoma previously diagnosed as low-grade (follicular growth pattern) transformed to higher grade disease in five of ten asynchronous cases. The 5-year survival rate was 60% among the transformed cases and 100% among the nontransformed cases. Extranodal cutaneous involvement in follicular lymphoma occurred in 3.8% of cases. The correct histologic diagnosis in a skin biopsy specimen can be established in cases with a follicular pattern (60%) with conventional histologic criteria such as redundancy of follicles, uniformity of follicular center cell composition, lack of interspersed phagocytic histiocytes, and absence of immunosecretory cellular elements such as plasma cells and immunoblasts.

Adult↗
PubMed1990

Count of benign melanocytic nevi as a major indicator of risk for nonfamilial nodular and superficial spreading melanoma.

A study of 207 consecutive white patients older than 18 years of age with nonfamilial nodular and superficial spreading melanoma and 295 controls was conducted in southeast France. Controls were recruited in a public health center. They were matched for sex and age to the overall population older than 18 years of age according to the last census. Melanocytic nevi were counted over the entire body, and data on sun exposure and skin type were collected. A multiple logistic model was used to determine the variables best predicting the risk of melanoma. In order of entry into the model, these variables were number of nevi from 5 to less than 10 mm (N5/10), outdoor leisure per year, frequency of sunburn in the last years, depth of suntan, number of nevi less than 5 mm in diameter (N1/5), age, social level, and hair color. Nevi counts were shown to be indispensable to the construction of a good predictive model for nonfamilial melanoma. After adjustment, estimated relative risks for nonfamilial melanoma rose with increasing number of N1/5, N5/10, and clinically atypical nevi (CAN) on the whole body. Compared with baseline groups the presence of more than 120 N1/5 was associated with a RR of 19.6, the presence of at least five N5/10 with a RR of 10, and the presence of more than one CAN with a RR of 2.77. The number of nevi on the buttocks seemed to be a strong risk factor of melanoma and may provide a simple technique for mass screening. The association between CAN and nonfamilial melanoma could be explained largely by the association between this tumor and the number of large nevi (greater than or equal to 5 mm). It is suggested that when using number of nevi as risk markers, their size might be more important than the other features of clinical atypia. Phenotypic traits and sun exposure, on the one hand, and number of nevi, on the other, seem to be independent risk factors. On the basis of nevus count alone, high-risk subgroups can be identified, which represent only a small part of the overall population older than 18 years of age and from which a large proportion nonfamilial melanoma would theoretically derive.

Adult↗
PubMed1994

p53 expression in pseudoepitheliomatous hyperplasia, keratoacanthoma, and squamous cell carcinoma of skin.

BACKGROUND: Expression of p53 protein has been described in a variety of human malignant tumors. Recent reports have also demonstrated its presence in benign and reactive lesions. The significance of p53 expression is unclear. METHODS: This study examines the p53 expression in proliferative lesions of skin, including 6 pseudoepitheliomatous hyperplasia, 33 keratoacanthoma, and 45 squamous cell carcinoma, and to evaluate its significance. RESULTS: p53 expression was observed in all of the six cases of pseudoepitheliomatous hyperplasia, 78.8% of keratoacanthoma, and 75.5% of squamous cell carcinoma. The staining pattern of pseudoepitheliomatous hyperplasia and keratoacanthoma was generally less intense and extensive compared with that of squamous cell carcinoma. A keratoacanthoma with nuclear atypia that showed strong and extensive p53 staining was also encountered. The perilesional skin in sun-exposed sites often showed the presence of p53-positive keratinocytes. Control skin taken from the buttock was negative for p53 protein. Conversely, p53 was often expressed in carcinomas arising from sun-exposed as well as sun-protected sites. p53 positivity involved mainly the undifferentiated cells at the base of the epidermis or periphery of tumor cords. Differentiated keratinized cells were not stained. p53-positive fibroblasts were also noted in the inflammatory and granulation tissues of pseudoepitheliomatous hyperplasia. CONCLUSIONS: p53 expression in skin is common and appears to be an early event in a series of genetic alterations reflecting underlying actinic damage, which may lead to but does not necessarily indicate neoplastic or malignant transformation. Because p53 staining is seen in proliferative and undifferentiated cells and ceases to be expressed when the cells differentiate, it appears that the expression of p53 protein, mutant or wild-type, is an indicator of immaturity and proliferative capacity of the cell rather than one of neoplasia or malignancy.

Carcinoma, Squamous Cell↗
PubMed1983

Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes.

We describe the clinical findings and natural history of an autosomal dominant form of partial lipodystrophy found in four affected individuals from three generations in the same family. The lipodystrophy was present from infancy/early childhood, involved primarily the face and local areas on the buttocks, and was nonprogressive. Affected individuals also had the Rieger anomaly, midface hypoplasia, short stature, retarded bone age, and hypotrichosis. An affected woman developed insulinopenic diabetes mellitus at 39 yr and another had glucose intolerance at 55 yr.

Adult↗
PubMed1989

X-linked cutaneous amyloidosis: further clinical and pathological observations.

A 10-year follow-up of a family with X-linked cutaneous amyloidosis confirmed no more than streaks or spots of brown pigmentation of the skin in females but much more varied and severe manifestations in males. These included neonatal colitis, infantile diarrhea, recurrent respiratory infections, corneal dystrophy, photophobia, unruly hair with a frontal upsweep, dry skin, and mottled, muddy-brown pigmentation seen first on the inner thighs and spreading diffusely to the buttocks, trunk, and arms. Amyloid was found in the pigmented skin of adults of both sexes but not in children. An autopsy of a 50-year-old man, subject to recurrent pneumonia, confirmed the presence of amyloid in the skin, but it was not found in other organs. Changes in the lungs were those of late-stage diffuse pulmonary fibrosis. The pattern of inheritance is X-linked, but the pathogenesis remains obscure.

Adult↗
PubMedDate not supplied

Anthropometric comparison of mentally retarded males with and without the fragile X syndrome.

An anthropometric survey of 41 variables (weight, height, 10 linear, 4 breadth, 22 craniofacial, 2 skinfold, and testicular volume), including multivariate discriminant analysis, was undertaken on 110 mentally retarded males (39 with and 71 without the fra(X) syndrome). The mean Z scores of the fra(X) syndrome males fell between -2.00 and 8.38 for bizygomatic diameter and testicular volume, respectively, and the range of the mean Z scores of the non-fra(X) males was from -2.64 to 2.26 for hand breadth and testicular volume, respectively. There was a statistically significant difference (P less than .05) between fra(X) and non-fra(X) males for 18 measurements (weight, height, 7 linear, 2 breadth, 5 craniofacial, 1 skinfold, and testicular volume), with the greater measurements (excluding bizygomatic diameter) found in fra(X) males. Sitting height, knee-buttock length, middle finger length, and hand length were negatively correlated (P less than .05) with age, whereas bizygomatic diameter, ear length, and ear width were positively correlated (P less than .05) with age and head circumference, head length, and outer canthal distance were positively correlated (P less than .05) with fra(X) chromosome expression in the fra(X) males. Triceps and subscapular skinfold thicknesses were negatively correlated (P less than .05) with age, whereas ankle breadth, ear length, ear width, and nose length were positively correlated (P less than .05) in the non-fra(X) males. Discriminant analysis of 34 fra(X) and 71 non-fra(X) males resulted in a discriminant function based on 6 of 17 anthropometric variables and age.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed2004

Human disorganization complex, as a polytopic blastogenesis defect: a new case.

We describe a baby girl of 4,000 g and 55 cm with supernumerary, malformed, and partially duplicated lower limbs, malformed and partially duplicated pelvis, spina bifida, coccygeal dermal sinus, ectopic anus located in the right buttock, duplicated internal genitalia, rectovaginal fistula, ileal atresia, Meckel diverticulum, and various renal system anomalies. We think that this phenotype is a new case of disorganization in humans (DsH) and postulate that this condition constitutes a polytopic defect of the blastogenesis. In this case, the presence of a malformation pattern involving structures in different parts of the body and organs derived from all of the germ layers, suggests that the pathogenetic event most probably occurred during blastogenesis affecting various progenitors fields.

Abnormalities, Multiple↗
PubMed1987

Infarction of the conus medullaris.

We describe 5 patients who presented with an acute cauda equina syndrome, which we believe was due to infarction of the conus medullaris. In 3 patients, the onset was spontaneous, and in 2 patients it was secondary to temporary occlusion of the distal aorta during medical manipulation. Pain in the buttocks and posterior thighs was a prominent initial symptom in the 3 patients with unprovoked attacks. The main clinical features were profound impairment of bowel and bladder function and of perianal and perineal sensation (S3 to S5 segments). There was sensory and motor impairment in the legs of variable extent, most marked in the S1 and S2 segments, but extending as high as L4 in 2 patients. In 1 patient, ischemic changes in the conus medullaris were confirmed post mortem. Ischemia confined to the caudal tip of the spinal cord is rare, and an underlying anomaly of the pattern of arterial supply is a likely predisposing factor. Four patients had partial return of function over a period of weeks.

Aged↗
PubMedDate not supplied

Fibrous myopathy. A rheumatic complication of drug abuse.

A progressive fibrous myopathy may result from chronic intramuscular drug abuse. This complication may mimic other rheumatic disorders and early recognition may prevent disability. The patient described here presented with fixed flexion and extension contracture of hips and knees, respectively, after abusing meperidine and other agents for 3 years. Soft tissues of thighs and buttocks were "wood hard," EMG showed absence of action potentials in affected muscles, and biopsy revealed extensive replacement of muscle with dense, acellular fibrous tissue. Possible mechanisms are discussed.

Biopsy↗
PubMed1991

The European Spondylarthropathy Study Group preliminary criteria for the classification of spondylarthropathy.

Classification criteria for most of the disorders belonging to the spondylarthropathy group already exist. However, the spectrum of spondylarthropathy is wider than the sum of these disorders suggests. Seronegative oligoarthritis, dactylitis or polyarthritis of the lower extremities, heel pain due to enthesitis, and other undifferentiated cases of spondylarthropathy have been ignored in epidemiologic studies because of the inadequacy of existing criteria. In order to define classification criteria that also encompass patients with undifferentiated spondylarthropathy, we studied 403 patients with all forms of spondylarthropathy and 674 control patients with other rheumatic diseases. The diagnoses were based on the local clinical expert's opinion. The 403 patients included 168 with ankylosing spondylitis, 68 with psoriatic arthritis, 41 with reactive arthritis, 17 with inflammatory bowel disease and arthritis, and 109 with unclassified spondylarthropathy. Based on statistical analysis and clinical reasoning, we propose the following classification criteria for spondylarthropathy: inflammatory spinal pain or synovitis (asymmetric or predominantly in the lower limbs), together with at least 1 of the following: positive family history, psoriasis, inflammatory bowel disease, urethritis, or acute diarrhea, alternating buttock pain, enthesopathy, or sacroiliitis as determined from radiography of the pelvic region. These criteria resulted in a sensitivity of 87% and a specificity of 87%. The proposed classification criteria are easy to apply in clinical practice and performed well in all 7 participating centers. However, we regard them as preliminary until they have been further evaluated in other settings.

Europe↗
PubMed1984

Painful anal ulceration in homosexual men.

Forty homosexual men with painful anal ulceration were studied. Two patients had primary syphilis; sixteen men had primary anal herpes and twenty-two men had traumatic ulceration of the anal canal. The clinical features of the men with primary herpes were compared with those of the group with traumatic anal fissures. Fever, paraesthesiae in the buttocks and lower limbs, and difficulty in initiating micturition were found significantly more frequently in the former group of patients.

Adolescent↗
PubMed2003

Combination chemotherapy for desmoid tumors.

BACKGROUND: Desmoid tumor (aggressive fibromatosis) is an aggressive fibroblastic proliferation of well circumscribed, locally invasive, differentiated fibrous tissue. For patients with desmoid tumors that are not amenable to surgery or radiation therapy, the use of hormonal agents and nonsteroidal antiinflammatory drugs (NSAIDs) have been attempted, with some success. The use of chemotherapy also has been reported to have activity. METHODS: Seven patients (5 males and 2 females) with a median age of 40 years (range, 17-66 years) who received cytotoxic chemotherapy (combinations of cyclophosphamide and doxorubicin; mitomycin, doxorubicin, and cisplatin; and ifosfamide and etoposide) for desmoid tumor were reviewed retrospectively. Five patients were found to have recurrent tumors. Four patients had familial adenomatous polyposis. Four patients had failed tamoxifen and six had failed NSAIDs prior to receiving cytotoxic chemotherapy. In six patients the desmoid tumor was intraabdominal and one tumor had occurred on the buttock. RESULTS: Patients received a median number of six cycles of chemotherapy (range, two to eight cycles). Objective disease regression occurred in 3 patients. There was an apparent clinical benefit in six patients with the duration of benefit ranging from 3 months to 15 years. The chemotherapy was well tolerated and no treatment-related mortality was reported. CONCLUSIONS: The results of the current study indicate that the use of combination chemotherapy for desmoid tumors may provide long-term clinical benefits.

Adolescent↗
PubMed2003

Role of adjuvant cryosurgery in intralesional treatment of sacral tumors.

BACKGROUND: Cryosurgery is an adjuvant surgical technique for the treatment of benign aggressive, low-grade malignant and metastatic tumors of long bones. It has been used rarely to treat sacral tumors, mainly because of potential damage to nerves, blood vessels, and intrapelvic organs. The authors described their experience with this procedure and provided medium and long-term follow-up results. METHODS: Fifteen procedures of cryosurgery of the sacrum were performed in 14 patients to improve the therapeutic outcome of a variety of tumors. The patient group included 7 males and 7 females with a mean age of 42 +/- 24 years. Three patients were younger than 20 years of age. The procedures were performed at the Tel Aviv Sourasky Medical Center between January 1991 and January 1999. There were seven benign aggressive lesions (four giant cell tumors and three aneurysmal bone cysts), one benign schwannoma, one low-grade chondrosarcoma, five metastatic carcinomas, and one high-grade Ewing sarcoma, all localized at level S(2) or higher. Eight of the bone tumors also involved significant anterior or posterior soft tissue. All patients had severe preoperative pain radiating to the buttocks, perineum, and lower limbs and 9 (64%) patients had bladder and/or rectal dysfunction. Invasive diagnostic procedures and radiation (if warranted) preceded surgery. Sacral posterior fenestration and burr drilling were followed by two-cycle cryosurgery using the open pour technique or the argon-helium-based heat-freeze system. RESULTS: All interventions were performed under combined general and regional anesthesia and concluded uneventfully with moderate blood loss. Thirteen patients were discharged home after 8 +/- 5 days (one patient remained hospitalized for 30 days). Only two patients experienced local disease recurrence during a 3-11-year follow-up period: one was retreated successfully by cryosurgery and the other underwent sacrectomy and radiotherapy elsewhere, with a subsequent loss of visceral functions. No patient suffered chronic pain, deep wound infections, or significant neurologic deficits and all were satisfied with the esthetic outcome. CONCLUSIONS: Cryosurgery is a conservative, feasible, and safe adjuvant technique in the treatment of sacral tumors. It is associated with minimal permanent neurologic and vascular injury compared with sacrectomy.

Adolescent↗
PubMed1989

Fine-needle aspiration cytology of postirradiation sarcomas, including angiosarcoma, with immunocytochemical confirmation.

Postirradiation sarcomas are an unusual but well-recognized late effect of cancer therapy. In this article, a fine-needle aspiration (FNA) series of four cases is presented. There were three female patients and one male patient, with an age range of 28-55 yr (mean, 41). Two of the patients were irradiated for uterine cervical carcinoma while the other two received irradiation for malignant lymphoma. The time interval to the development of the postirradiation sarcoma ranged from 10 to greater than 20 yr. There were a postirradiation synovial sarcoma of the buttock region, malignant fibrous histiocytoma of the bone (femur), and rhabdomyosarcoma and angiosarcoma of the retroperitoneum. A spectrum of cytologic findings was encountered, reflecting the specific types of sarcomas. Immunocytochemical studies performed on the aspirated material from the angiosarcoma demonstrated the utility of immunoperoxidase stains for ULEX europaeus agglutinin-1 (UEA-1) and, to a lesser degree, factor VIII-related antigen antibody, confirming the vascular nature of this malignancy. The FNA findings from all four cases demonstrated cytologic features that allowed recognition of this unusual complication of irradiation treatment. This article confirms the utility of FNA cytology in following patients with previous malignancies and differentiating a postirradiation sarcoma from recurrent carcinoma.

Adult↗
PubMed1991

Primary diagnosis of disseminated fungal disease by fine-needle aspiration of soft-tissue lesions.

Two cases of disseminated fungal infections diagnosed by fine-needle aspiration of soft-tissue masses are presented. Both patients were initially treated on an outpatient basis for a presumed musculoskeletal disorder before the diagnostic biopsy was obtained. The first patient apparently contracted Coccidioides immitis infection while residing in Arizona, but the diagnosis was rendered on an aspirate of a buttock mass performed in Boston. The second patient, a non-insulin-dependent diabetic, was diagnosed with a cryptococcal abscess on an aspirate of a shoulder mass performed in the emergency room. The diagnosis of coccidioidomycosis was confirmed by culture and that of Cryptococcus by serology. Fungal infection was clinically unsuspected in both patients and the cytologic diagnosis facilitated rapid implementation of therapy.

Adult↗