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Atypical bullous disease after COVID‐19 vaccination. [ABSTRACT FROM AUTHOR]

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive genetic disorder caused by biallelic germline mutations in one of the mismatch repair genes. Carriers are at exceptionally high risk for developing, typically in early life, hematological and brain malignancies, as well as cancers observed in Lynch syndrome. We report a homozygous MLH1 missense variant (c.1918C>A p.(Pro640Thr)) in a Tunisian patient with CMMRD syndrome and a family history of early-age colorectal cancer. The proband presented initially with colonic oligopolyposis and adenosquamous carcinoma of the caecum. He later developed several malignancies, including undifferentiated carcinoma of the parotid, grade 4 IDH-mutant astrocytoma, and ampulla of Vater adenocarcinoma. The patient was older than typical for this disease and had a remarkably prolonged survival despite developing four distinct aggressive malignancies. The current report highlights the challenges in assessing the pathogenicity of the identified variant and the remarkable phenotypic diversity in CMMRD. [ABSTRACT FROM AUTHOR]

Given the findings from dermoscopy and the already histologically confirmed RDD in our patient, a conjunctival biopsy was not considered necessary. In addition, I NRAS i , I KRAS i , I MAP2K1 i and I ARAF i mutations in patients with RDD have recently been identified.[2] Dermoscopy may be a useful diagnostic tool for cutaneous RDD. CPD questions Learning objective To gain up-to-date knowledge on the clinical presentations and management of Rosai-Dorfman disease (RDD) with cutaneous and ocular involvement. [Extracted from the article]

Key clinical message: We report the first case of pathologic complete response (pCR) to neoadjuvant imatinib in a gastric stromal tumor harboring KIT mutations in both exons 11 and 9. The significance of this co‐occurrence is unknown and might increase the responsiveness of gastrointestinal stromal tumors (GISTs) to imatinib. pCR of GIST to neoadjuvant imatinib is rare. We report a case of pCR to neoadjuvant imatinib in a gastric stromal tumor that harbored co‐occurrence of multiple KIT mutations in exons 11 and 9. This co‐occurrence in exons 9 and 11 is the first to be reported in the English literature. [ABSTRACT FROM AUTHOR]

Background: The aim of this study was to analyze PIK3CA mutations in exons 9 and 20 in breast cancers (BCs) and their association with clinicopathological characteristics. Methods: Mutational analysis of PIK3CA exon 9 and 20 was performed by Sanger sequencing in 54 primary BCs of Tunisian women. The associations of PIK3CA mutations with clinicopathological characteristics were analyzed. Results: Fifteen exon 9 and exon 20 PIK3CA variants were identified in 33/54 cases (61%). PIK3CA mutations including pathogenic (class 5/Tier I) or likely pathogenic (class 4/Tier II) occurred in 24/54 cases (44%): 17/24 cases (71%) in exon 9, 5/24 cases (21%) in exon 20 and 2/24 cases (8%) in both exons. Of these 24 cases, 18 (75%) carried at least one of the three hot spot mutations: E545K (in 8 cases), H1047R (in 4 cases), E542K (in 3 cases), E545K/E542K (in one case), E545K/H1047R (in one case) and P539R/H1047R (in one case). Pathogenic PIK3CA mutations were associated with negative lymph node status (p = 0.027). Age distribution, histological SBR tumor grading, estrogen and progesterone receptors, human epidermal growth factor receptor 2, and molecular classification were not correlated with PIK3CA mutations (p > 0.05). Conclusion: The frequency of somatic PIK3CA mutations in BCs of Tunisian women is slightly higher than that of BCs of Caucasian women and more observed in exon 9 than in exon 20. PIK3CA mutated status is associated with negative lymph node status. These data need to be confirmed in larger series. [ABSTRACT FROM AUTHOR]

Cardiac echinococcosis is rare, and its clinical evolution is slow and asymptomatic until complications occur such as sudden death. Although more frequent in endemic countries, hydatid disease should be known by forensic specialists with regard to the migration flows of people from zones with high endemicity and who are likely to die from infection. We report an autopsy case of a 33‐year‐old male without any medical history who presented to the emergency room with shortness of breath, chest tightness, tingling all over the body and faintness without fever. He died suddenly before the medical examination. Autopsy showed no traumatic injuries or signs of violence. A cardiac 7 cm multivesicular hydatid cyst situated on the interventricular septum and the interatrial septum was observed. The cyst was ruptured with a massive hydatid pulmonary embolism. Hydatid cysts were also observed in the lungs. No signs of anaphylactic shock were found. The diagnosis of hydatid cyst was confirmed by histopathological examinations. Our case report highlights the mechanisms of occurrence of cardiac echinococcosis and hydatid pulmonary embolism as a complication, as well as the autopsy findings and the precautions needed by the forensic doctor. [ABSTRACT FROM AUTHOR]

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. 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. 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. 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. • Placental tumors are categorized into trophoblastic and non-trophoblastic tumors. Placental non-trophoblastic tumors (PNTT) are uncommon. They mainly consist of chorangiomas, placental teratomas (PT) and haemangiomas. • PT are rare, with less than 40 cases reported in the literature. PT are rarely suspected on prenatal ultrasonography and the diagnosis is made after delivery. • Only pathological examination allows the diagnosis of certainty. • Even though the macroscopic appearance of theses tumors may be worrying, they are usually benign and no fetal or maternal complications. [ABSTRACT FROM AUTHOR]

Fungal infection, a classic complication of steroid therapy,4 might have triggered the blister formation of EBA in the affected sites. Physical examination revealed tense bullae within the erythematous skin lesions with no blisters elsewhere (Fig. Dear Editor, Epidermolysis bullosa acquisita (EBA) is a rare, autoimmune, subepidermal blistering disease with heterogeneous clinical features. [Extracted from the article]

Common clinical features of COVID‐19 are increasingly known but cutaneous manifestations are rarely described among healthcare workers. A review of cutaneous manifestations of COVID‐19 especially among healthcare workers (HCW) is thus required. The aim of our current study was to provide a comprehensive review of cutaneous manifestations of COVID‐19 among HCW through six case reports and a literature review. We conducted a literature search for cases reports, original and review articles using PubMed and the Google search engines. We included the written English studies that mentioned cutaneous symptoms during COVID‐19 infection. In addition to the review, 6 cases were collected among the HCW working at the Charles Nicolle Hospital of Tunis from September 2020 to January 2021. In our review, we included 17 articles in addition to our six cases. The type of papers was case series and case reports in respectively 8 and 9 studies. Skin manifestations were reported in two studies including two HCW, in addition to our series of six HCW. Skin manifestations were chilblain‐like lesions (44.5%), a generalized macular or maculopapular exanthem (32.1%), a papulovesicular rash and chicken pox‐like vesicles (11.5%), painful acral red–purple papules (4.6%), urticaria (2.8%), purpuric or petechial lesions (2.3%), and livedo reticularis lesions (0.45%). Of the 218 cases, 203 cases have reported the location of lesions. The very great majority of lesions were found on the trunk, hands, and feet. Fifty‐one patients (23.4%) experienced lesions on the trunk. The time of onset of cutaneous lesions was variable. At the diagnosis or the onset of COVID‐19 symptoms, 8.3% (18/218) of patients presented with cutaneous lesions. After the onset of respiratory symptoms or COVID‐19 diagnosis, 36.7% (80/218) of patients presented with cutaneous lesions. Of the 197 cases with reported healing times, healing times were up to 24 days. COVID‐19 has been associated with different cutaneous manifestations, likely of varying pathophysiology and severity, some preceding COVID‐19 symptomatology and others occurring during active disease or later in the course. Thus, heightened awareness and timely recognition of cutaneous manifestations in COVID‐19 are important for occupational physicians treating HCW with COVID‐19. [ABSTRACT FROM AUTHOR]

Liposarcoma of the spermatic cord (LSC) is a rare tumor with no consensus on therapeutic management. This study reports six new cases of LSC. The patients' age ranged from 56 to 80 years. All patients presented with a scrotal mass, and it was ultrasound that oriented the diagnosis. The initial treatment consisted of an inguinal orchiectomy. Anatomopathological study coupled with immunohistochemistry using the anti-MDM2 antibody confirmed that the tumors were well-differentiated LSC in four cases and dedifferentiated LSC in the other two cases. Adjuvant radiotherapy was performed in two patients. No recurrence was noted in these two patients at 14 and 34 months of follow-up. The only recurrence we had was local and occurred at 44 months of follow-up in a patient who had a dedifferentiated form ofLSC. [ABSTRACT FROM AUTHOR]

Background: Macrocheilia is an inflammatory disfiguring condition responsible for the swelling of the lips. This multi‐etiological entity represents a diagnostic and therapeutic challenge. Published data on macrocheilia is scarce, often limited to granulomatous cheilitis. Methods: We conducted a retrospective study, including all patients presenting with chronic macrocheilia (CM) for nineteen years. CM was defined as a persistent enlargement of one or both lips for at least eight weeks. Both descriptive and analytical analyses were performed. Results: Of the 47 patients identified, 20 (43%) had cutaneous leishmaniasis, 10 (21%) had Miescher's cheilitis, five (11%) had Melkersson–Rosenthal syndrome, five (11%) had sarcoidosis, one (2%) had lepromatous leprosy, one (2%) had systemic amyloidosis, and one (2%) had Crohn's disease. In four cases, the CM was unlabeled. Ulcerations were significantly associated with leishmaniasis (P < 0.05). Histological study showed a granulomatous infiltrate in 72% of cases. Medical treatment was adapted to the etiology of CM. Surgery was performed in two cases. Improvement of CM secondary to leishmaniasis was seen in all cases. In patients with idiopathic orofacial granulomatosis, partial improvement was noted in four cases and a total improvement in one case. Recurrences were noted in three cases after complete regression. Conclusions: Macrocheilia is a rare and disfiguring condition that requires an etiological investigation, considering that it can reveal a serious underlying systemic disease. We identified several factors that could help recognize the cause of CM, including age, history of intermittent swelling, the extent of lip enlargement, the existence of ulceration, and systemic symptoms. [ABSTRACT FROM AUTHOR]

Background: Lichen planus (LP) is a chronic inflammatory dermatosis that affects the skin and the mucous membranes. The literature on the dermoscopic aspects of mucosal LP is still scarce. This study aimed to describe the dermoscopic aspects of mucosal LP and to provide a comprehensive updated summary of the literature. Methods: This was a cross‐sectional, multicenter study conducted in Charles Nicolle, La Rabta, and Habib Thameur hospitals from December 2019 to October 2020. We included patients with histologically confirmed mucosal LP for whom a dermoscopic examination was performed. Results: Twenty‐seven patients were enrolled. The main dermoscopic structures observed were as follows: Wickham's striae (WS) (91%), vessels (88%), pigmentated structures (41%), erosions (63%), scales (34%), and blunting of lingual papillae (3.1%). WS patterns were as follows: reticular (67%), radial (48%), annular (30%), globular (15%), dotted/starry sky (15%), and veil‐like blue or grey‐white homogenous pattern (19%). Vascular structures were as follows: linear (85%), dotted (70%), looped (22%), and peripheral sea anemone‐like vessels (37%). These vessels were distributed in a radial arrangement at the periphery of the lesions in 67% of the cases. Pigmented structures included brown/blue globules (33%), grey‐blue dots (30%), and brown dots (26%). Conclusion: Dermoscopic features of mucosal LP are varied. WS is the hallmark of LP. The distribution and aspects of WS in mucosal LP were slightly different from those described in cutaneous LP. Physicians should be aware of these dermoscopic features that could help differentiate LP from other mucosal inflammatory diseases. [ABSTRACT FROM AUTHOR]

Acquired epidermodysplasia verruciformis in renal‐transplant recipients is associated with a high risk for developing squamous cell carcinoma. An accurate diagnosis and a regular monitoring in this high‐risk population must be stressed. [ABSTRACT FROM AUTHOR]

Blastomycosis‐like pyoderma is a rare skin disorder most commonly caused by bacterial infection. It is usually diagnosed in immunocompromised patients. We report a case of BLP in an immunocompetent woman, who presented with a 6‐week history of verrucous cutaneous plaque of the left wrist. [ABSTRACT FROM AUTHOR]

Primary bladder cancer is a frequent malignancy in the urology field, whereas secondary bladder neoplasms from a distant organ are extremely rare. This paper aims to report two rare cases of a secondary tumor of the urinary bladder from a primary gastric tumor and to perform a literature review of similar reported cases in order to better characterize its clinicopathological features and diagnosis in effort to shed light on this rare condition. The final diagnosis of secondary adenocarcinoma was made histologically after transurethral biopsy or resection of the bladder lesion. In one case, the bladder metastasis was a synchronous metastasis, and in the second case, it occurred under chemotherapy five months after initial diagnosis with gastric adenocarcinoma. Secondary adenocarcinoma of the bladder is extremely rare but should be considered when evaluating a bladder lesion in a patient treated for gastric cancer or presenting with gastric symptoms. [ABSTRACT FROM AUTHOR]

• Cutaneous metastasis of renal cell carcinoma is rare. • Bellini carcinoma is a very rare type of carcinoma of renal cell origin with a very poor prognosis. • Multiple skin metastases from an asymptomatic Bellini's carcinoma are exceptional. Cutaneous metastasis of renal cell carcinoma is rare and the majority of these metastases are asynchronous. The scalp and face are the major sites of metastases, followed by the chest and abdomen. However, the entire body surface can be affected. When diagnosed, patients are multi-metastatic in 50–80% of cases during follow-up post nephrectomy. We report here a patient who consulted a dermatologist for multiple skin nodules that appeared 3 months prior. A skin biopsy of a nodule was performed and the pathological examination and immunohistochemistry profile confirmed a metastasis of Bellini Carcinoma, which is a renal cell carcinoma of the collecting duct. A thoraco-abdomino-pelvic scan showed a left renal tumor locally advanced with lung and liver metastases. Chemotherapy was indicated and the patient died four months after diagnosis. Bellini carcinoma is a very rare type of carcinoma of renal cell origin with a very poor prognosis as it is diagnosed already at a metastatic state in the vast majority of cases. After analysis of the data from the literature, our case is the second reported case of a Bellini carcinoma revealed by cutaneous metastases. The peculiarity of our observation is metastases occurred on all four limbs and at the trunk level, and the asymptomatic characteristic of Bellini's carcinoma, which is a rare situation. The originality of this observation is based on the mode of presentation of a rare renal tumor by an even rarer metastasis of the skin. [ABSTRACT FROM AUTHOR]

There is a need for adjuvant imaging techniques that would allow reducing the number of slow Mohs stages. This study aimed to evaluate the use of dermoscopy in the demarcation of basal cell carcinoma (BCC) surgical margins for slow Mohs surgery. This was a retrospective study over 3 years (2016‐2019), including patients with BCC excised using slow Mohs surgery. On the basis of the treatment received, the patients were divided into 2 groups: group 1 (28 BCC) and group 2 (26 BCC). In group 2, BCC margins were demarcated using dermoscopy. A total of 54 patients were enrolled in the study. The number of positive lateral margins was significantly lower in the group where BCC margins were demarcated using dermoscopy (19% vs 53%, P =.012). In this group, the number of Mohs stages needed to achieve complete clearance was significantly lower. However, the mean interval between the first Mohs excision and Mohs clearance was not significantly different between the 2 groups (9 ± 4 vs 12 ± 7 days). In conclusion, preoperative dermoscopy is useful for reducing the number of positive lateral margins and the number of slow Mohs stages in treating BCC especially pigmented tumors. [ABSTRACT FROM AUTHOR]

Dermoscopy is a useful tool that helps distinguish lupus miliaris disseminatus faciei (LPDF) from sarcoidosis and tuberculosis. Follicular keratotic plugs (FKP) represent the hallmark of LPDF. Dermoscopic aspect of LPDF changes through the course of the disease. [ABSTRACT FROM AUTHOR]

Background: Determination of BRAF status is mandatory for targeted therapy but it is not currently available in most developing countries. Aim: We aimed to analyze BRAF mutations in a series of cutaneous melanoma of Tunisian patients and to compare BRAF V600E mutation detection by immunohistochemistry to DNA sequencing. Patients and methods: Archival formalin fixed paraffin embedded tissues from 28 patients with primary cutaneous melanoma were evaluated for the BRAF mutations by Sanger sequencing and immunohistochemistry. Results: BRAF mutations were detected in 19/28 (68%) of analyzed tumors. The sensitivity and specificity of immunohistochemistry compared to DNA sequencing for identification of the BRAF V600E mutation were 100%. We found five novel mutations, one of them had deleterious effect. Conclusion: The present study shows an intermediate frequency of mutations of the BRAF gene in cutaneous melanoma of Tunisian patients, and supports the use of immunohistochemistry as a screening test for the assessment of the BRAF V600E status in the management of melanoma in clinical practice. [ABSTRACT FROM AUTHOR]

• Adrenal gland is an unusual location for hydatid cyst. • Clinical presentation and physical examination are unspecific, and can not raise the diagnosis. • Imaging is based on ultrasound, and CT scan, can suspect the diagnosis, describing precisely the features of the hydatid cyst. • Only pathological examination of the specimen after surgery can confirm the diagnosis. • The treatment is surgical and has to be as conservative as possible. In North Africa which is an endemic region for Hydatid Cyst, Tunisia is considered as an endemic country. The liver and lungs are common locations for Hydatid Cysts, whereas the Adrenal Glands are unusual and rare locations. Here is a report of primary Hydatid Cyst in a 55-year old patient, with left hypochondrium pain as chief complain. No remarkable findings were revealed by physical examination and blood analysis showed normal range. Hydatid serology was negative. The diagnosis of Hydatid Cyst was suspected based on CT Scan results which showed a well-circumscribed, non-enhanced, multi-cystic, 12 cm mass with scattered calcifications located in the left adrenal gland. Therefore, the patient underwent an open surgery with resection of the protruding dome of the cyst as it was attached to the renal pedicle, the pancreatic tail, the spleen and the jejunum. The final pathological examination of the specimen led to a Hydatid Cyst. Throughout an extensive literature review that we have made, we have analyzed 54 reported cases, with their clinical presentations, biological exams, radiological features and surgical managements. The treatment should be surgical and has to be as conservative as possible. The prevention of the parasite transmission has to be the cornerstone of the disease management. The hydatid cyst of the adrenal gland remains a rare diagnosis that has to be evoked in case of an adrenal gland cyst, especially in an endemic country. [ABSTRACT FROM AUTHOR]

BACKGROUND: Stratification and risk-evaluation of bladder cancer (BCa) patients are far-reached issues, especially for those with non muscle invasive disease. Thus, setting-up biomarkers, especially after resection of the primary tumor, is crucial. Specifically, Neutrophil to lymphocyte ratio NLR and let-7 deregulation which have been preliminarily but not consistently described to be associated to unfavorable prognosis. OBJECTIVE: To explore the clinical value of pre-treatment Neutrophil to Lymphocyte Ratio (NLR), let-7c and let-7g's deregulation. METHODS: Data were extracted from ninety BCa samples. Pre-treatment NLR was estimated as the absolute neutrophil count divided by the absolute lymphocyte count. Expression patterns of let-7c and let-7g were assessed by qRT-PCR. Correlation with clinical characteristics was performed by descriptive statistics. RESULTS: Both let-7 miRs were upregulated. Interestingly, let-7g was associated to pathological stage (p = 0.001) and tumor multiplicity (p = 0.003). NLR was associated to histological grade (p = 0.005) and clinical stage (p = 0.006). They were both associated to more aggressive phenotype and their worth as potential stratification biomarkers was confirmed by ROC curve. CONCLUSIONS: Our data demonstrated the potential clinical value of all markers, especially pretreatment NLR and let-7g. Further studies are recommended to confirm their utility in improving the clinical decision-making regarding treatment and follow-up scheduling. [ABSTRACT FROM AUTHOR]

Cancers of extra bladder origin represent between 2 and 12% of bladder neoplasms and are most often secondary to contiguous bladder invasion. Metastasis from distant organs is exceptional, especially from pulmonary adenocarcinoma with <10 cases identified over the last 20 years. We report here a new case of a 55-year-old patient with a recently diagnosed pulmonary adenocarcinoma referred to the urology department for macroscopic hematuria. Computed tomography scan showed, in addition to the lung mass of the right lower lobe with a right mediastinal adenopathy, a thickening of the right lateral bladder wall. Cystoscopy showed inflammatory lesions on the bladder mucosa, which biopsy with immunohistochemical examination revealed to be tumoral proliferation in the lamina propria realizing the same immunohistochemical profile of the primary lung tumor (CK7+/TTF1+/CK20−/PSA−). The patient was treated with palliative platinum-based chemotherapy and unfortunately died 5 months after diagnosis. [ABSTRACT FROM AUTHOR]