Naslov
Higher order thinking about differential diagnosis: Pelvic segmental neurofibromatosis.

Autori
Culej Diana, Bursać Danijel, Perković Pavo, Valetić Josip, Duić Željko, Gašparov Slavko

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
6. Hrvatski kongres o reprodukcijskom zdravlju, planiranju obitelji, kontracepciji i IVF-u s međunarodnim sudjelovanjem. / - , 2022, 28-28

Skup
6. Hrvatski kongres o reprodukcijskom zdravlju, planiranju obitelji, kontracepciji i IVF-u s međunarodnim sudjelovanjem.

Mjesto i datum
Šibenik, Hrvatska, 19.05.2022. - 21.05.2022

Vrsta sudjelovanja
Poster

Vrsta recenzije
Recenziran

Ključne riječi
segmental neurofibromatosis

Sažetak
Neurofibromatosis (NF) are a group of genetic disorders that primarily affect neuroectoderm. It is a common disorder affecting 1 from 3000 persons. Since it is extremely variable in its presentation, Riccardi suggested in 1982 a useful system for classifying neurofibromatosis into eight types. We report a case of a segmental neurofibromatosis or type V neurofibromatosis, a rare genetic disorder defined by a limitation of multiple macular cutaneous pigmentations „cafe- au-lait “(CAL) spots and/or neurofibromas to a single, unilateral segment of the body. It is very rare with an incidence 20 times lower than neurofibromatosis. A 34-year-old woman presented with tender, subcutaneous, palpable nodules arising from previous episiotomy scar 2 years postpartum. Physical examination revealed similar nodules with same morphological characteristics in the left labia majora and the right ingvinum. A transvaginal ultrasound revealed a conglomerate of enlarged nodules, the largest 25mm in diameter just beneath the left ovary. Histopathological analysis of the nodule revealed a neurofibroma. The cells were immunohistochemically CD34 and S- 100 positive. No immunolabeling was disclosed for SMA and Caldesmon. Immunohistochemical staining of B- cathenin was positive in cytoplasm. On the left shoulder, „cafe-au-lait“macules(CALMs) as a skin hyperpigmentation were seen. There are no specific guidelines regarding management of segmental neurofibromatosis, but the disease may have malignant alteration, thus regular follow up examinations should be considered. It is important to consider pelvic segmental neurofibromatosis as a differential diagnosis in cases with tender, subcutaneous nodules to decide appropriate treatment modalities and time for intervention.

Izvorni jezik
Engleski

POVEZANOST RADA