Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

BACKGROUND: Elucidation of specific and recurrent/founder pathogenic variants (PVs) in BRCA (BRCA1 and BRCA2) genes can make the genetic testing, for breast cancer (BC) and/or ovarian cancer (OC), affordable for developing nations. METHODS: To establish the knowledge about BRCA PVs and to determine the prevalence of the specific and recurrent/founder variants in BRCA genes in BC and/or OC women in North Africa, a systematic review was conducted in Morocco, Algeria, and Tunisia. RESULTS: Search of the databases yielded 25 relevant references, including eleven studies in Morocco, five in Algeria, and nine in Tunisia. Overall, 15 studies investigated both BRCA1 and BRCA2 genes, four studies examined the entire coding region of the BRCA1 gene, and six studies in which the analysis was limited to a few BRCA1 and/or BRCA2 exons. Overall, 76 PVs (44 in BRCA1 and32 in BRCA2) were identified in 196 BC and/or OC patients (129 BRCA1 and 67 BRCA2 carriers). Eighteen of the 76 (23.7%) PVs [10/44 (22.7%) in BRCA1 and 8/32 (25%) in BRCA2] were reported for the first time and considered to be novel PVs. Among those identified as unlikely to be of North African origin, the BRCA1 c.68_69del and BRCA1 c.5266dupC Jewish founder alleles and PVs that have been reported as recurrent/founder variants in European populations (ex: BRCA1 c.181T>G, BRCA1 c1016dupA). The most well characterized PVs are four in BRCA1 gene [c.211dupA (14.7%), c.798_799detTT (14%), c.5266dup (8.5%), c.5309G>T (7.8%), c.3279delC (4.7%)] and one in BRCA2 [c.1310_1313detAAGA (38.9%)]. The c.211dupA and c.5309G>T PVs were identified as specific founder variants in Tunisia and Morocco, accounting for 35.2% (19/54) and 20.4% (10/49) of total established BRCA1 PVs, respectively. c.798_799delTT variant was identified in 14% (18/129) of all BRCA1 North African carriers, suggesting a founder allele. A broad spectrum of recurrent variants including BRCA1 3279delC, BRCA1 c.5266dup and BRCA2 c.1310_1313detAAGA was detected in 42 patients. BRCA1 founder variants explain around 36.4% (47/129) of BC and outnumber BRCA2 founder variants by a ratio of ≈3:1. CONCLUSIONS: Testing BC and/or OC patients for the panel of specific and recurrent/founder PVs might be the most cost-effective molecular diagnosis strategy.

Idiopathic granulomatous mastitis: A challenging case report and comprehensive review of the literature.

INTRODUCTION AND IMPORTANCE: Idiopathic granulomatous mastitis is an uncommon, long-lasting inflammatory condition of the female breast. It is characterized by the development of a painful breast mass that gradually increases in size. This condition is benign and its cause is unknown. It primarily affects women of childbearing age who have a history of pregnancy and breastfeeding. The main feature of idiopathic granulomatous mastitis is the presence of chronic inflammation in the breast. CASE PRESENTATION: We report a 36-year-old woman with a history of pregnancy and breastfeeding presented with pain and swelling of the right breast. Physical examination revealed a mass with redness and retraction of the nipple. Imaging revealed localized density and hypoechoic areas with collection, suggesting granulomatous mastitis. A biopsy confirmed the diagnosis. The abscess was drained through a small incision performed under local anesthesia. Treatment with corticosteroids resulted in significant improvement, with complete resolution after one month. CLINICAL DISCUSSION: A comprehensive evaluation of potential causes is necessary to confirm the diagnosis of idiopathic granulomatous mastitis. Histologically, it is distinguished by the predominant presence of neutrophils and the absence of caseous necrosis. Treatment remains controversial, with recent literature supporting the efficacy of conservative management with steroid and immunosuppressive therapy, leaving surgical excision for complicated and refractory cases. CONCLUSIONS: Idiopathic granulomatous mastitis is an uncommon breast condition where the exact causes and recommended treatment approaches are not well-defined. It is important to consider this condition in women who are in their reproductive years.

Uncommon presentation of necrotizing fasciitis affecting the breast in a young breastfeeding patient: Case report.

INTRODUCTION AND IMPORTANCE: Necrotizing fasciitis is a highly dangerous infection that poses a life-threatening risk as it rapidly spreads and causes tissue necrosis in the subcutaneous tissues and fascia. Although rare, the breasts can be affected by this infection, which adds to the complexity of the condition. CASE PRESENTATION: A 26-year-old woman who had been breastfeeding for two months presented with pain, swelling, and fever in her left breast. The left breast showed skin darkening and foul-smelling discharge. The diagnosis was septic shock due to necrotizing fasciitis. Prompt treatment included surgical debridement, broad-spectrum antibiotics, and supportive care. The patient's condition remained challenging, and the infection was caused by multi-resistant bacteria. CLINICAL DISCUSSION: Necrotizing fasciitis is a highly severe and aggressive type of soft tissue infection. It can range from minor or mild infections of the soft tissues to severe cases involving septic shock. While it is uncommon, necrotizing fasciitis can also affect the breasts. The diagnosis of breast NF relies on a combination of clinical evaluation, culture results, laboratory findings, and imaging studies. Swift surgical interventions, along with appropriate antibiotic therapy and supportive management, are vital for the patient's survival and improved prognosis. CONCLUSIONS: Breast necrotizing fasciitis is frequently misdiagnosed due to the presence of thick breast tissue, which creates challenges in identifying the infection between the skin and deep fascia. Swift and extensive surgical debridement, combined with the administration of broad-spectrum antibiotics, are crucial components for effectively managing and preventing the significant morbidity and mortality associated with this condition.

A challenging diagnosis and treatment of embryonal rhabdomyosarcoma in the cervix of an adult woman: A surgical case report.

INTRODUCTION AND IMPORTANCE: Embryonal Rhabdomyosarcoma is a rare form of sarcoma mainly seen in children and adolescents. In the specific case of the cervix, embryonal Rhabdomyosarcoma is an extremely rare mesenchymal tumor, accounting for <1 % of all cervical cancers. This highly malignant tumor mainly affects adolescents and young adults. CASE PRESENTATION: We describe the case of a 29-year-old woman with embryonal rhabdomyosarcoma of the cervix, which manifested as an exophytic cervical mass. Histopathological and immunohistochemical findings confirmed the presence of embryonal rhabdomyosarcoma of the cervix. This patient was successfully treated with a combination of neoadjuvant chemoradiotherapy, total abdominal hysterectomy with bilateral ovary transposition, and adjuvant chemoradiotherapy. CLINICAL DISCUSSION: Embryonal Rhabdomyosarcoma of the cervix may manifest by vaginal bleeding, a cervical mass and pelvic symptoms. The diagnosis is confirmed by histopathology and immunohistochemistry. With multimodal treatment including surgery, chemotherapy and radiotherapy, outcomes improve for patients. CONCLUSIONS: Uterine cervix embryonal RMS is an uncommon cancer in adult patients. While rare, it should be considered as a potential diagnosis in patients presenting with vaginal bleeding and a significant cervical polyp. Histopathology, complemented by relevant immunohistochemistry, is crucial for accurately detecting the tumor and guiding appropriate management strategies.

A surgical case report on primary umbilical endometriosis (Villar's nodule).

Endometriosis is a disease characterized by the implantation of endometrial-like tissue outside the uterine cavity. Common symptoms include cyclical pain, dysmenorrhea, dyspareunia, and infertility. Although endometriosis can spread to various extrauterine locations including the ovaries, fallopian tubes, and peritoneal surfaces, umbilical endometriosis is a rare manifestation of the disease. We report an intriguing clinical case of primary umbilical endometriosis in a 36-year-old female patient admitted to our department due to the notable manifestation of a painful swelling at the umbilicus, accompanied by cyclic episodes of bleeding. Subsequent investigations, incorporating ultrasound and computed tomography, indicated the presence of umbilical endometriosis, a finding that was subsequently confirmed by pathological examination of a mass biopsy. Surgical resection of the umbilical mass was performed, and histopathological analysis definitively confirmed the diagnosis of endometriosis. This case report aims to discuss in depth the diagnosis and management of umbilical endometriosis.

Myasthenia gravis and pregnancy: Lessons learned from a complex a case report.

Myasthenia gravis primarily affects young adults, with a higher incidence in women, particularly between the ages of 20 and 30. When a young woman with myasthenia gravis contemplates pregnancy, healthcare providers must consider the potential implications. The interplay between hormonal factors and changes in the immune system establishes a complex relationship between myasthenia gravis and pregnancy. On one hand, pregnancy can alter the course of the disease, while on the other hand, the disease can impact the progression of the pregnancy and the well-being of the fetus. In this case report, we present the case of a 28-year-old woman suffering from myasthenia gravis who had undergone a thymectomy 5 years ago and was being treated with an acetylcholinesterase inhibitor. After a planned conception, the patient presented a relapse of her disease during the third trimester of pregnancy, with the onset of severe hydramnios. This observation highlights a specific case of decompensation of myasthenia gravis during pregnancy, associated with the presence of severe hydramnios. Subsequently, we delve into the existing literature to examine the reciprocal influence between myasthenia gravis and pregnancy, as well as the effects of anti-myasthenic treatments on pregnancy outcomes.

Vaginal bleeding as a rare presentation of metastatic renal cell carcinoma: Case report and literature review.

INTRODUCTION AND IMPORTANCE: Renal cell carcinoma (RCC) is a relatively uncommon malignancy, comprising only 3 % of adult cancers, but it is responsible for 85 % of primary renal tumors. When RCC metastasizes, the most common sites are the lungs, liver, bones, and brain. Although it is rare, RCC can also metastasize to the vagina. About 18-33 % of RCC cases are diagnosed with metastasis at the time of initial diagnosis. CASE PRESENTATION: A 48-year-old woman presented with postcoital bleeding and dyspareunia. At the physical examination, a polypoid mass was discovered on the right lateral wall of the upper third of her vagina and CT scan showed a right renal. Biopsies revealed clear cell renal carcinoma with metastasis to the vagina. The patient was diagnosed with stage IV (T3cN2 M1) renal cancer and underwent systemic therapy with Everolimus. However, subsequent imaging showed tumor progression, and the patient opted to halt treatment and was subsequently lost to follow-up. CLINICAL DISCUSSION: In the past decade, there have been fewer than ten reported cases of RCC metastasizing to the vagina. Diagnosing vaginal clear cell carcinoma is challenging due to overlapping morphology with clear cell renal cell carcinoma, requiring immunohistochemistry. Treatment of vaginal cancers is challenging due to their rarity, and there is a lack of consensus on the optimal approach due to limited prospective studies. CONCLUSIONS: Although the occurrence of RCC metastasis to the vagina is very uncommon, it is important to consider the possibility of metastatic RCC in cases of vaginal bleeding or lesions.

Septic Shock Following Operative Hysteroscopy in a Menopausal Woman: A Case Report and Review of the Literature.

Minimally invasive gynecologic surgery such as hysteroscopy has a low risk of complications. Infections, however, are more common in the presence of risk factors such as smoking, history of pelvic inflammatory disease, and endometriosis. We report the case of a patient who underwent operative hysteroscopy without immediate complications and was admitted 2 days later to the emergency department in a severe state of septic shock. With multiple organ failures requiring admission to an intensive care unit, the patient died despite extensive antibiotic therapy and vasoactive drugs. Ascending infection can be a potentially fatal complication of hysteroscopy, even in the absence of known risk factors.

[Scott's syndrome and pregnancy: about a case]. / Syndrome de Scott et grossesse: à propos d'un cas.

Scott´s syndrome is a rare congenital thrombopathy with an autosomal recessive inheritance pattern. The purpose of our study is to report the case of a parturient woman with Scott´s syndrome secondary to a mutation of the ANO6 gene never described in the literature. After 3 bleeding episodes, in particular after spontaneous abortion, the diagnosis was confirmed by flow cytometry. This patient was monitored during pregnancy in our centre and then gave birth via vaginal delivery at full term. Special preventive measures were taken. Outcome was good for the mother and the newborn. The treatment of Scott´s syndrome is purely symptomatic and mainly involves platelet transfusions. Since it is a rare thrombopathy with a high bleeding risk and difficult diagnosis, pregnancy and childbirth in patients with this syndrome require rigorous monitoring, as the prognosis is life threatening.

Giant ovarian serous cyst and postmenopausal adnexal torsion: An unusual case report and literature review.

INTRODUCTION AND IMPORTANCE: Adnexal torsion is an uncommon but urgent surgical situation more frequently observed during the reproductive years and rarely in postmenopausal women. CASE PRESENTATION: This case report describes a postmenopausal woman with a large left ovarian cyst measuring 18 × 20 × 22 cm who experienced adnexal torsion, which is a rare occurrence in this age group. To avoid the potential requirement for additional surgical procedures in case of cyst recurrence in the remaining ovary or the development of uterine diseases a total abdominal hysterectomy and bilateral salpingo-oophorectomy with cystectomy were performed. Histopathological analysis of the cyst confirmed that it was a benign serous cystadenoma of the ovary. CLINICAL DISCUSSION: Adnexal torsion can happen at any age but is less likely to occur after menopause. Moreover, giant ovarian cysts (>10 cm) are uncommon, making adnexal torsion on these cysts a rare event. While laparotomy remains the gold standard surgical intervention, laparoscopy is beginning to play a role in management of giant cyst. CONCLUSIONS: This report documenting a rare case of adnexal torsion in a postmenopausal woman following a serous giant cystadenoma emphasizes that this surgical emergency can occur at any age. In addition, the report highlights that the presence of an ovarian mass or cyst increases the risk of adnexal torsion, regardless of age.

Anterior vaginal cyst mimicking pelvic organ prolapse: Case report and literature review.

INTRODUCTION AND IMPORTANCE: Large Anterior vaginal cysts can manifest as symptomatic genital prolapse, posing a diagnostic challenge due to their uncommon clinical presentation. CASE PRESENTATION: A 22-year-old primiparous woman with no previous medical history is admitted for delivery. Examination revealed a cystic mass on the anterior vaginal wall. Perineal ultrasound confirmed an independent cyst measuring 45x40x35 mm. The cyst was successfully aspirated, and the patient delivered without complications. At 12 months, the cyst reappeared, requiring vaginal surgical excision. Histological examination identified a Gartner cyst. During follow-up at 6 and 12 months, the patient remained asymptomatic. CLINICAL DISCUSSION: Vaginal cysts typically present as small, solitary, and symptomless. However, they can grow in size, mimicking other conditions and often being misdiagnosed as cystoceles. Consequently, surgical excision of the vaginal cysts is the preferred treatment option, yielding positive anatomical outcomes and high patient satisfaction levels. CONCLUSIONS: In this report, we describe a rare case of a Gartner cyst found on the anterior vaginal wall. The report also underscores the crucial role of imaging in accurately identifying the cyst's location, assessing its association with adjacent tissues, and guiding the surgeon in devising an effective operative plan.

Abortifacient power of potassium permanganate rebirth of an archaic myth: Case report.

INTRODUCTION AND IMPORTANCE: Potassium permanganate has been historically used as an abortifacient, but it is now considered an outdated practice. Despite the lack of scientific evidence supporting its effectiveness as an abortifacient, some communities still hold misguided beliefs about its abortifacient properties. CASE PRESENTATION: We report a case of a 38-year-old multiparous North African woman. Who experienced excessive vaginal bleeding after using potassium permanganate as an abortifacient. The examination revealed carbonized ulcerated lesions on the vaginal walls and cervix. Once the patient was stabilized, the medical team performed sutures on the vaginal lesions and inserted an intravaginal tampon to arrest the bleeding. The patient was discharged after 72 h. CLINICAL DISCUSSION: In the last century, potassium permanganate was utilized as a method of abortion, but this practice has gradually fallen out of use. Regrettably, due to misinformation and a lack of comprehensive documentation, certain underdeveloped regions persist in employing this unsafe approach. The aim of this report is to inform obstetricians about the harmful effects of potassium permanganate, and the injuries it can cause. Given the scarcity and age of published reports on the subject, this document highlights the crucial importance of proper management to prevent these practices and ensure the safety of the women concerned. CONCLUSIONS: The use of potassium permanganate in abortion presents serious risks, and despite its outdated nature, false beliefs about its abortifacient properties persist. Raising awareness among healthcare professionals and the general public is crucial in preventing the harmful effects of these erroneous beliefs.

Malakoplakia mimicking malignant ovarian tumor: A case report and literature review.

INTRODUCTION AND IMPORTANCE: Malakoplakia is a rare inflammatory condition that generally occurs in immunocompromised individuals and is thought to be secondary to a bactericidal defect in macrophages. CASE PRESENTATION: In this report, we present the case of a 50-year-old multiparous patient who presented with chronic pelvic pain. Ultrasonography revealed a suspicious left lateral-uterine mass. Laparoscopic exploration showed an inflammatory mass in the left adnexa adherent to the uterus, peritoneum, and meso-sigmoid. The patient underwent a total hysterectomy with bilateral salpingo-oophorectomy and peritoneal biopsy. Histological findings were consistent with a left adnexal location of malacopakia, and Bacteriological analysis revealed Escherichia coli infection sensitive to ciprofloxacin. At the 6-month follow-up, no recurrence was observed. The patient's condition improved following surgery and antibiotic treatment. CLINICAL DISCUSSION: Genitourinary malakoplakia is more common in women and has no specific clinical, biological, or radiological features. Diagnosis is based on histological criteria, notably the presence of Michaelis-Gutmann bodies. Advances in our understanding of the pathophysiology of malakoplakia have made it possible to consider medical treatment options, mainly through the use of antibiotics. However, in cases where the organ is severely affected, surgical excision is recommended. CONCLUSIONS: To summarize, adnexal malacoplakia is a highly uncommon disease that may be mistaken as a malignant tumor. The diagnosis is established through histological examination. The usual treatment is a combination of surgical excision followed by targeted antibiotic therapy, as the diagnosis is often not made until after surgery.

Spontaneous successful term delivery in a unicornuate uterus: A case report and literature review.

INTRODUCTION AND IMPORTANCE: Malformations of the uterus are generally rare and are due to defective fusion of Mullerian duct. These include the unicorn uterus, with or without a rudimentary horn. Pregnancy in a unicornuate uterus is a rare event and carries with it maternal-fetal risks. CASE PRESENTATION: In this report, we present an exceptional case of a pregnancy reaching full term in a unicornuate uterus without an accessory horn, which was serendipitously discovered during an emergency cesarean section. Intraoperatively, the uterus exhibited a distinct cylindrical shape with a flattened left wall, with the absence of both the left fallopian tube and left ovary. No additional abnormalities within the abdominopelvic cavity were noted. Notably, the postoperative recovery was uneventful for both the mother and newborn, without any notable complications. CLINICAL DISCUSSION: The presence of a unicornuate uterus is associated with adverse obstetric outcomes, including recurrent miscarriage, premature delivery, fetal malposition, intrauterine growth retardation, and uterine rupture. In addition, around 40 % of women with this malformation may experience infertility. Although the efficacy of preconception or early interventions, such as rudimentary uterine horn resection and prophylactic cervical cerclage has not been fully established in improving obstetric outcomes, their usefulness is suggested by current medical practice. CONCLUSION: Women with a unicornuate uterus are known to be at increased risk of obstetrical complications, such as spontaneous abortion, premature delivery, post-partum hemorrhage, abnormal fetal presentation and cesarean delivery. It is important to consider women with this anomaly as being at high obstetrical risk.

Congenitally uncorrected transposition of the great arteries in a pregnant woman 26-year-old: Description and literature review.

Complex congenital heart disease and pregnancy are a challenge and delicate medical situation. We describe a first-time pregnancy of a woman living with an uncorrected d-transposition of the great arteries (TGA) with serious fetal complications required multidisciplinary assessment. Twenty-six years old primigravida referred to our cardiology center in 34 weeks of gestation with peripheral cyanosis. The patient was stable hemodynamically and the room air oxygen was at 82%. A continuous murmur systolic and diastolic at second left intercostals space was found. The transthoracic echocardiographic showed an uncorrected TGA with a large atrial defect and patent ductus arteriosus. Obstetrical ultrasonography showed severe intrauterine growth restriction. The patient was delivered by caesarean section under epidural anesthesia with good outcome. This is a case report with discussion of the maternal-fetal outcome of pregnant women with asymptomatic uncorrected TGA. Coordinated care by an informed obstetrician and cardiologist should be the aim.

Primary clear cell adenocarcinoma of the vagina not associated with diethylstilbestrol metastasizing to the lung: a case report.

Primary clear cell carcinoma of the vagina (PCCAV) is a rare form of vaginal cancer that typically affects young women with a history of prenatal exposure to DES. However, data on non-DES PCCAV cases are limited. This report describes a case of PCCAV in a 47-year-old patient who presented with post-coital bleeding and was diagnosed with clear cell adenocarcinoma via biopsy and MRI. The patient had no history of DES exposure and further testing showed no signs of metastasis, leading to surgery and chemotherapy. Four years later, the patient presented with dyspnea, and a chest CT scan revealed a lung nodule, later confirmed to be a metastasis of clear cell adenocarcinoma from the vaginal cancer. The patient passed away a month later due to complications from COVID-19.

Bilateral serous retinal detachment in pre-eclampsia a rare but favorable complication: case report.

Pre-eclampsia is a serious pregnancy-related condition that can cause damage to multiple organs, including the eyes. While pre-eclampsia is commonly associated with the narrowing of the retinal arteries, more severe complications such as cortical blindness, optic neuropathy, and serous retinal detachment (SRD) can occur in rare cases. This case report describes a 26-year-old primiparous woman who presented with headaches, bilateral visual fog, and tinnitus and was diagnosed with pre-eclampsia based on elevated blood pressure and proteinuria. Despite receiving antihypertensive treatment, the patient's visual symptoms worsened, prompting an emergency cesarean section. An ophthalmological examination revealed bilateral macular SRD. SRD in pre-eclampsia is a rare complication that can occur even in the immediate post-partum period, with a favorable prognosis. It should be noted that any pre-eclamptic patient presenting with visual symptoms in the third trimester or post-partum should be considered for serous retinal detachment.

Familial occurrence of concomitant imperforate hymen and transverse vaginal septum: a case report.

The imperforate hymen and transverse vaginal septum are female reproductive tract abnormalities. Their concurrent occurrence is rare. So far, no manifestation of both anomalies within the same family has been reported in the literature. We report the first familial case of two sisters having both mentioned abnormalities. Our patient was the youngest sister of a 14-year-old, who presented with cyclic lower abdominal pain. Clinical and imaging examinations showed an imperforate hymen with hematometrocolpos. In addition, the surgery confirmed a low transverse vaginal septum, which was resected using a virginity-preserving procedure. In conclusion, the presence of both mentioned abnormalities between siblings reflects a potential genetic etiology, also in order to avoid late diagnostics of such anomalies, the imperforate hymen must be screened in the birth room.