The effect of diet on the ophthalmological, clinical and biochemical aspects of Richner-Hanhart syndrome: A morphological ultrastructural study of the cornea and the conjunctiva

Type II tyrosinemia (Richner-Hanhart syndrome) is a familial aminoacid disorder, clinically characterized by ocular changes (keratitis), palmo-plantar hyperkeratosis, no constant mental changes with mental deterioration, abnormal urinary excretion and high serum tyrosine level in consequence of the absence of tyrosine-aminotransferase. Almost 20 families have been described in the literature of which 50% are of Italian origin, suggesting that this disorder is particularly frequent in our country. We report a family with 2 affected members with typical clinical and biochemical findings (keratitis, palmo-plantar hyperkeratosis, abnormal urinary and serum tyrosine concentrations), not suffering from mental retardation. Clinical symptoms completely disappeared after the decrease of urinary and serum tyrosine levels following a tyrosine- and phenylalanine-free diet. These cases are compared with those reported in literature, and the usefulness of diet for the improvement of clinical and metabolic symptoms is discussed

Primary signet-ring cell carcinoma of the uterine cervix with long term follow-up: case report.

BACKGROUND: The uterine cervix represents an exceptional localization of signet-ring cell adenocarcinoma (SRCA). Most commonly, endocervical tumors with such morphology are metastatic from the breast or gastrointestinal tract while primary pure or almost pure tumors are extremely rare. No previous case of primary pure endocervical SRCA with follow-up longer than three years has been found in the literature. CASE REPORT: The present report describes such a case of a 46-year-old woman without evidence of recurrence eight years after the diagnosis. The patient was referred to the Gynecology Department for persistent abnormal vaginal bleeding of three months duration. Specular examination and colposcopy revealed a cervical polypoid lesion occupying the posterior lip of the cervix and protruding from the external uterine orifice. A biopsy of the lesion was interpreted by the pathologist as SRCA. An extensive search for an extrapelvic primary cancer was undertaken but revealed no evidence of malignancy. The patient underwent radical hysterectomy with bilateral salpingo-oophorectomy and pelvic and paraaortic lymph node sampling for FIGO Stage 1B1 cervical cancer without any adjuvant chemo- or radiotherapy. The histological diagnosis showed neoplastic signet-ring cells confined in the head of the cervical polyps with minimal stromal infiltration. After surgery the patient underwent close followup including periodic cervicovaginal smears, bimanual vaginal examination, complete laboratory tests, ultrasound and abdominopelvic computed tomography. CONCLUSIONS: The prognostic relevance of primitive pure SRCA in the uterine cervix is unclear because of the relatively small number of cases. However the two early deaths out of six reported cases and the absence of follow-up longer than three years for the other affected patients, seem to suggest an aggressive behavior. The present case represents an exceptional long-term survival, probably related to an early diagnosis and a prominent polypoid growth of the neoplasia outside the uterus

A case of mesonephric adenocarcinoma of the vagina with a 1-year follow-up.

Mesonephric adenocarcinoma deriving from remnants of vaginal mesonephric ducts is one of the rarest tumors of the female genital tract with only three cases reported till date in international literature. Differential diagnosis from other aggressive tumors is complex and controversies exist in the literature regarding the biological behavior, prognosis, and optimal management strategies of these tumors. A 58-year-old woman presented with a large mass extending from the right adnexal region to the perineum and labia majora. CA125 was increased. A radical excision of the lesion with pelvic and para-aortic lymphadenectomy was performed. A well-capsulated mesonephric adenocarcinoma in a background of vaginal mesonephric remnants was diagnosed. Tumor cells showed immunoreactivity for pancytokeratin, cytokeratin (CK), CD 10, epithelial membrane antigen, vimentin, and calretinin; indeed they were negative for carcinoembryonic antigen, CK 20, estrogen receptor, and progesterone receptor. No evidence of lymph node involvement or metastatic disease was observed. The patient did not receive any adjuvant therapy and is alive and clinically free of disease at 1-year follow-up. In spite of the aggressive biological behavior attributed in literature to mesonephric carcinomas, which is probably due to the complex differential diagnosis with other müllerian tumors, the favorable course of our patient further supports the hypothesis that malignant mesonephric carcinomas may not behave aggressively and that radical surgery alone may be curative