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1.
Int J Surg Case Rep ; 121: 110007, 2024 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-38981293

RESUMO

INTRODUCTION AND IMPORTANCE: Placental non-trophoblastic tumors (PNTT) are uncommon, consisting mainly of chorangiomas, placental teratomas (PT) and haemangiomas. PT are exceedingly rare, with less than 40 cases reported in the literature. We, herein, present a case of mature PT arising within the membranes, and we aim to discuss the clinico-pathological characteristics of this rare entity. CASE PRESENTATION: A 30-year-old female patient, gravida 1, para 1, with no medical history, was admitted at 40 weeks' gestational age. Ultrasound in the third trimester of pregnancy revealed agenesis of the left fetal kidney and a fundal placenta with increased uterine artery resistance. A cesarean section was performed for failure of labor's induction. Gross examination of the placenta revealed a solid polypoid mass, measuring 4 × 2 cm, attached to the membranes and covered by a smooth cutaneous coating. The cut surface was soft, yellowish, and focally heterogenous, with areas of adipose tissue and cartilage. Microscopic examination revealed that the mass was made up of a mature keratinized squamous layer, with skin appendages, adipose and cartilaginous tissues. The diagnosis of PT was established. CLINICAL DISCUSSION: PT are rarely suspected on prenatal ultrasonography and the diagnosis is made after delivery. Only pathological examination allows the diagnosis of certainty. Their histogenesis is still poorly understood. CONCLUSION: We presented a rare case of mature PT arising within the membranes. PT are extremely uncommon tumors. Usually, they are benign, and no fetal or maternal complications. A better knowledge of these uncommon tumors is mandatory to not miss the diagnosis.

2.
Clin Case Rep ; 11(6): e7381, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37251745

RESUMO

Key Clinical Message: To date, the pathogenic mechanisms of the association between Crohn's disease and MALT lymphoma are ambiguous and yet remain to be elucidated. The publication of other cases illustrating this rare association would be interesting to properly plan therapeutic strategies and to better understand the pathogenesis and the prognosis of this association. Abstract: Crohn's disease is a progressive disease, with increasing incidence, that leads to bowel damage and disability. Primary colonic MALT lymphoma is a low-grade B lymphoma, representing only 2.5% of all MALT lymphomas. The pathogenesis of these two cancers is still not clearly elucidated and their association is rare. To our knowledge, only two cases have illustrated synchronous Crohn's disease and MALT lymphoma. The possible role of Crohn's disease as a precursor of MALT lymphoma is still debated; some studies proposed that immunosuppressive drugs used in Crohn's disease are involved in the lymphomagenesis of MALT lymphoma. Other studies supposed no relation between these two neoplasms.We present a rare case of association between Crohn's disease and primary colonic MALT lymphoma in an elderly female patient who had not received any immunosuppressive therapy. The patient presented with chronic diarrhea, epigastric pain, and weight loss. A colonoscopy with biopsies was performed. The histopathologic examination concluded with the diagnosis of not only Crohn's disease but also MALT lymphoma. This discovery of MALT lymphoma was incidental. We highlight the clinical and histopathological features, and we discuss the association between Crohn's disease and MALT lymphoma, which may provide additional information about pathogenic mechanisms.

4.
Appl Clin Genet ; 14: 235-239, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33883924

RESUMO

H syndrome is an extremely rare autosomal recessive affection caused by biallelic mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter hENT3. The hallmark signs are cutaneous consisting of hyperpigmentation and hypertrichosis patches. Besides, associated systemic manifestations are highly various reflecting phenotypic pleiotropism. Herein, we report a first case of pseudo-Meigs' syndrome occurring in a young Tunisian H syndrome diagnosed patient with a novel homozygous frameshift mutation in exon 2 of the SLC29A3 gene: p.S15Pfs*86 inducing a premature stop codon. The patient developed ascites associated with left ovarian mass and she underwent surgery. After tumor resection, ascites disappeared rapidly. Histological examination showed serous cystadenoma of the ovary orienting the diagnosis towards pseudo-Meigs' syndrome.

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