1/4. Port-wine-stain (nevus flammeus), congenital Becker's nevus, cafe-au-lait-macule and lentigines: phakomatosis pigmentovascularis type Ia--a new combination.A 16-year-old male had brown macules in a geographic pattern with increased terminal hair on the back and dusky red partially blanchable non progressing macules on his left thigh since birth. Clinical diagnoses of Becker's nevus and port-wine-stain were made and confirmed histopathologically. In addition, he had multiple lentigines on the face and trunk and a single cafe-au-lait-macule on his chest.- - - - - - - - - - ranking = 1keywords = back (Clic here for more details about this article) |
2/4. Segmentally distributed neurofibromatosis associated with adenocarcinoma of the colon.Neurofibromatosis can be associated with various malignancies, but an association with adenocarcinoma is extremely rare. A 61-year-old man who had been diagnosed with adenocarcinoma of the hepatic flexure of the colon was referred for segmentally located, multiple cafe-au-lait spots and tumors on his back and axillary freckles for 40 years. Histopathologic examination of the tumor was consistent with the neurofibromatosis. We report an unusual case of type I neurofibromatosis associated with adenocarcinoma of the colon that was clinically similar to segmental neurofibromatosis.- - - - - - - - - - ranking = 1keywords = back (Clic here for more details about this article) |
3/4. association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome.We describe a patient who was evaluated because of delayed development. The patient had microcephaly and cafe-au-lait spots and the facial features included upward slanting of the palpebral fissures, short nasal bridge and a highly arched palate. In addition the external ears had bilateral over folded helices, there was clinodactyly of the fourth and fifth fingers and multiple cafe-au-lait spots on the back, buttocks and thighs. Chromosomal analysis of peripheral blood showed 46,XY,-r(12)(p13.3q24.33)[73]/45,XY,-12[8]/47,XY,r(12)(p13.3q24.33), r(12)(p13.3q 24.33)[2]. This is the eighth case of a patient with a ring chromosome 12 to be reported so far. The similarity of our patient to those previously described suggests that the ring chromosome 12 syndrome can be delineated as a distinct entity with characteristic clinical features.- - - - - - - - - - ranking = 1keywords = back (Clic here for more details about this article) |
4/4. Ileal polyposis as manifestation of neurofibromatosis syndrome.A 13-year-old girl presented with features of intestinal obstruction. At surgery, the terminal 25 cm of ileum, which was resected along with the right colon, showed plexiform neurofibromatosis of the serosa and mesentery, hyperplastic submucosal and myenteric nerve plexuses and proliferation of neural tissue in the lamina propria, which manifested as diffuse polyposis of the ileal mucosa. The patient had a single inconspicuous external neurofibroma and a few cafe-au-lait spots on the back.- - - - - - - - - - ranking = 1keywords = back (Clic here for more details about this article) |