Cutaneous angiosarcoma in a patient with xeroderma pigmentosum.

Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder characterized by photosensitivity, cutaneous pigmentary changes, premature skin ageing and development of various cutaneous and internal malignancies at an early age as a result of a defect in nucleotide excision repair following ultraviolet light exposure. Cutaneous angiosarcomas are aggressive neoplasms that are rarely associated with XP. In this communication, we report the case of a 40-year-old male patient with XP who developed an angiosarcoma of the face and discuss the implications of this association in view of recent developments in this field.

Improving care in ovarian cancer: the role of a clinico-pathological meeting.

BACKGROUND: We assessed the impact of clinico-pathological meetings on the diagnosis and management of patients with ovarian cancer. METHODS: Between January 2005 and December 2006, about 400 patients of suspected or confirmed ovarian cancer were evaluated in the 'Gynaecology Tumour Clinic'. Of these, 108 cases were referred for discussion in the weekly clinico-pathology meeting for various indications. These cases were retrospectively analysed regarding their initial clinical and pathological diagnosis, the indication for referring the case for discussion in the meeting and the impact this had on the overall management. Alterations in diagnosis, which impacted management, were classified as 'major changes' and those, which did not, were called 'minor changes'. RESULTS: Ninety-one of the 108 cases discussed were available for analysis; 75.8% of cases were initially diagnosed as epithelial ovarian cancers. In 48 of 91 cases (52%), there was an alteration in the diagnosis as a direct result of discussion in the meeting, mainly after clarifications regarding histological grading in 34 cases. Of the remaining 14 cases, 3 had a change in histopathological diagnosis; 2 cases, which were initially labelled as undifferentiated tumours, had their diagnosis clarified; and in the remaining 9 cases, in which the primary site was not known, a possible primary site could be assigned (with the help of clinical, radiological and pathological inputs). Among the 14 cases with alterations other than grading, the change was contributed by slide review alone in 7 cases and in the rest by a combination of slide review and clinical inputs. As a direct outcome of the meeting, 20 of 91 cases (22%) had their management plan modified (major change). CONCLUSION: The practice of conducting weekly clinicopathological meetings has a major impact on the management of cases of ovarian cancer.

Germ cell tumours of the testis: clinical features, treatment outcome and prognostic factors.

BACKGROUND: The prognosis of patients with germ cell tumours of the testis has Improved over the past two decades following cisplatinum-based chemotherapy. Currently, staging and risk assessment of the disease is crucial in order to provide curative therapy for patients with poor risk features and not over-treat good risk patients. METHODS: We reviewed the case records of 71 men diagnosed to have germ cell tumours between January 1993 and October 1999. Their clinical characteristics, staging, treatment outcome and prognostic factors for response and survival were analysed. RESULTS: The median age of the patients was 30 years (range: 3-65 years); 69% were in the third and fourth decades. Sixty-one patients (86%) had a primary testicular tumour while in 10 (14%) the tumour was extragonadal. Histopathologically, 53 patients (75%) had non-seminomatous germ cell tumours and 15 (21%) had a seminoma. Twenty-seven patients (62%) had evidence of metastatic disease at the time of diagnosis. On prognostication, non-seminomatous germ cell tumour patients could be divded into good, intemediate and poor prognostic groups comprising 41%, 17% and 40% of patients, respectively. All patients with a seminoma were in the good prognostic subgroup. Fifty-eight patients were evaluable for response. Overall, 91% of patients responded: complete response 71% and partial response 20%. Complete response rates were signiflcantly higher for the good risk (95%) compared to the intermediate (49%) and poor risk (47%) categories (p< 0.003). At a median follow up of 26 months, the 2-year overall and progression-free survival for all patients was 70% and 57%, respectively. The predictors for decreased overall and progression-free survival were age >35 years, presence of poor risk features and mediastinal primary disease. CONCLUSION: The outcome for germ cell tumours in men with good risk is excellent. A protocol consisting of bleomycin, etoposide and cisplatin is effective. Tailoring of chemotherapy In good risk patients to minimize toxicity and Improving results in poor risk patients are areas that need further work.

Entomophthoromycosis of the nose and paranasal sinus.

A case of entomophthoromycosis of the nose and paranasal sinus is presented. To our knowledge, this is the youngest patient reported with this infection. Though the clinical picture mimicked a malignancy, histopathology clinched the diagnosis of entomophthoromycosis. The lesions resolved completely with oral potassium iodide.

Histoplasmosis of the eyelids--a case report.

Systemic histoplasmosis manifesting as an ulcerative eyelid lesion is rare. We describe a successfully treated case of histoplasmosis who presented with an eroding ulcer in the lid.

Familial male pseudohermaphroditism.

Familial male pseudohermaphroditism (MPH) due to 17,20-desmolase deficiency is rare. Here we present two siblings with MPH possibly due to 17,20-desmolase deficiency. The first patient presented with unambiguous female external genitalia and hypergonadotrophic hypogonadism. Chromosomal analysis revealed 46 XY. Ultrasound evaluation of pelvis revealed gonads in the inguinal canal, and no uterus. These findings were confirmed on laparotomy. Histology revealed the gonads to be testes. The second patient had ambiguous genitalia (perineoscrotal hypospadias, bifid scrotum with palpable gonads) with a 46 XY chromosomal pattern. Both patients had high plasma 17-hydroxy progestrone (17 OHP), low normal dehydro epiandrosterone sulphate (DHEAS) and low plasma testosterone. Plasma testosterone and DHEAS showed no response to ACTH or HCG. These features are compatible with the diagnosis of 17,20-desmolase deficiency.

S-100 staining for the diagnosis of melanoma of the anal canal.

Thirty-two cases of anorectal melanoma are presented. These were diagnosed at the Pathology Department of the All India Institute of Medical Sciences, New Delhi, over a period of 18 years from 1970 to 1988. In 13 cases the clinical diagnosis was carcinoma melanoma was suspected clinically in only 9 of the 32 cases. Epithelioid tumours constituted the majority (26/32) 81%, followed by the pleomorphic type (4/32), 12.5% and then the sarcomatoid variant (2/32) 6.2%. Staining for S-100 protein was done on 21 cases and was found positive in 16/21 or 76%.

Diabetic peripheral neuropathy.

Diabetic neuropathy, a challenging contemporary problem, has a clinical prevalence of 60% problematic peripheral neuropathy occurs in about 20%. Recent concepts in aetiopathogenesis include the role of sorbitol excess and myoinositol depletion in causing deficient Na+/K+ ATPase activity. Sorbitol excess per se may result in intraneuronal oedema. Besides these metabolic hypotheses, theories on endoneurial microcapillary pathology and hypoxia have gained favour. Furthermore, a unifying concept of sorbitol excess with intraneuronal oedema leading to secondary vascular compromise has been suggested. A new research classification linking clinical and laboratory evaluation has been proposed which may serve to unify research results. Quantitative sensory testing, autonomic function testing and electrodiagnosis have been utilised to detect incipient diabetic neuropathy. The benefit of 'tight' glycaemic control has been objectively documented by using laboratory parameters. Oral myoinositol supplementation and gangliosides have produced marginal improvement. The role of intraneuronal oedema in the pathogenesis of diabetic neuropathy and its reversal by aldose reductase inhibitors holds out fresh promise for their use in prevention and treatment.