Search Results (49)

Mature teratomas account for approximately 20% of all ovarian tumors identified in pathological studies. Benign or malignant somatic neoplasms developing within teratomas can arise from any tissue in up to 2% of mature cystic teratomas, including low-grade malignant mucinous neoplasms. This report presents the case of a 34-year-old woman with no previous gynecological or general health issues, who was admitted to our Hospital after an asymptomatic pelvic mass was detected during a routine exam. A transvaginal ultrasound revealed a unilateral pelvic mass in the left adnexal region, measuring 8 cm. The CT scan showed a cystic-appearing formation measuring nearly 12 cm, which indented the bladder dome. Final diagnosis indicated a mucinous carcinoma arising from a mucinous borderline lesion within the context of a mature ovarian teratoma. No other involvement or lymphadenopathies were detected on 18FDG-PET CT scan, and the patient is now well and free of recurrences. Full article

Introduction: Fetal ovarian cysts are known to be a common form of fetal abdominal masses in female fetuses, often resulting from hormonal stimulation in utero. Although many resolve spontaneously without sequelae, others can develop into more complex pathologies, such as intracystic hemorrhage or torsion, which can compromise ovarian integrity and long-term reproductive outcomes. Early detection and appropriate follow-up evaluation are therefore crucial for optimal perinatal management. Materials and Methods: We conducted a retrospective study of 12 cases of fetal ovarian cysts diagnosed by routine prenatal ultrasound examinations over a two-year period at our institution. Inclusion criteria were the presence of a cystic adnexal lesion detected in utero, detailed prenatal ultrasound documentation, and a comprehensive postnatal examination. Sonographic features such as cyst size, internal echogenicity, and signs of vascular compromise were recorded. The mother’s clinical variables, including gestational age at diagnosis and relevant medical conditions, were noted. Postnatal follow-up evaluation consisted of ultrasound examinations and, if indicated, pediatric surgical consultation. Results: Of the 12 cases, 9 were characterized by a simple cystic morphology. All spontaneously regressed postnatally and did not require surgical intervention. Three were defined as complex cysts showing septations or echogenic deposits; one of these cysts required immediate surgical exploration for suspected torsion. No cases with a malignant background were identified. All infants showed a favorable course with normal growth and development until follow-up evaluation. Conclusions: This series emphasizes that most fetal ovarian cysts are benign and often resolve without intervention, highlighting the benefit of systematic prenatal imaging. Nevertheless, complex or large cysts require close prenatal and neonatal monitoring to diagnose complications such as torsion. Full article

Background/Objectives: Skin adnexal tumors (SATs) are rare neoplasms originating from sebaceous glands, hair follicles, and sweat glands, often presenting diagnostic challenges due to their histopathological diversity and clinical resemblance to other lesions. This epidemiological and clinicopathological study aimed to evaluate SATs diagnosed between January 2018 and October 2024 across two medical centers in Turkey. Methods: A total of 652 cases were analyzed based on demographic features, tumor size, anatomical localization, and histological subtypes per the 2018 WHO classification. The study also explored the predictors of malignancy, including tumor size and multifocality. Results: Among the cases, 98% were benign and 2% malignant. Sebaceous tumors were the most common (34.5%), followed by eccrine/apocrine (34.2%) and follicular tumors (31.3%). Benign tumors showed a slight female predominance (56.6%), while malignant tumors were more frequent in males (61.5%). The majority of tumors were located in the head and neck region (84.6%), and a tumor size >20 mm was significantly associated with malignancy. Conclusions: This study, one of the largest series from Turkey, highlights the importance of clinicopathological correlation in SATs. It contributes to the literature by identifying size-based cut-off values for malignancy prediction and by assessing interobserver agreement, multifocality, and tumor subtype distribution. Full article

Congenital melanocytic nevi (CMN) are benign tumors present at birth or arising in the first few months of life. A small subset of these nevi present with mild atypical features and heterogeneous differentiation, including Schwannian differentiation. We present a case of a 3-week-old with a 7 cm red/purple scalp nodule consistent with CMN with mild atypical heterogeneous areas. On histology, there were dermal nests of spindle cells in a fibrillar matrix, with increased vessels and clusters of small round melanocytes interspersed between collagen bundles and around adnexal structures. The lesion also exhibited rare pagetoid ascent of melanocytes as single cells and nests. Overall, these features were consistent with a CMN with nodular proliferative neurocristic cutaneous hamartoma (NCH) with a component of a compound mild atypical melanocytic proliferation. Next generation sequencing (NGS) identified a novel SH2B1::BRAF fusion. This case highlights the diagnostic challenges of heterogeneous differentiation within CMN in young children. Full article

Background: Squamoid eccrine ductal carcinoma (SEDC) is an exceedingly rare and aggressive cutaneous adnexal malignancy, with fewer than 100 reported cases. Its histopathologic overlap with squamous cell carcinoma (SCC) frequently leads to misdiagnosis, delaying appropriate management. Unlike SCC, SEDC exhibits biphasic differentiation, deep infiltration, and a high rate of perineural invasion, contributing to significant morbidity and poor long-term outcomes. Given the absence of standardized treatment protocols, managing SEDC remains a challenge. Case Presentation: We report an unusual case of an 80-year-old female presenting with progressive numbness, nasal deviation, and a subcutaneous indurated lesion in the left nasofacial region. The early neurological symptoms were an atypical feature, suggesting perineural invasion (PNI) before visible tumor progression. Initial histopathologic evaluation was inconclusive, raising suspicion of SCC, necessitating immunohistochemical analysis, which confirmed ductal differentiation, leading to the final diagnosis of SEDC. The patient underwent radical resection with intraoperative margin assessment (Mohs micrographic surgery; MMS) followed by adjuvant radiotherapy (62 Gy/31 fractions) due to high-risk features, including perineural and perivascular invasion. Despite initial disease control, a local recurrence involving the left orbit and nasal bone occurred 20 months postoperatively, demonstrating the aggressive nature of SEDC despite clear surgical margins and adjuvant therapy. Due to disease progression and refusal of further surgery, only palliative care was provided. During follow-up, the patient contracted COVID-19, further complicating her clinical status and contributing to her demise. While COVID-19 was not directly linked to SEDC progression, its impact on patient management was significant. Conclusions: This case underscores the diagnostic and therapeutic challenges of SEDC, emphasizing the need for early suspicion, extensive histopathologic assessment, and aggressive multimodal treatment. The importance of multidisciplinary management—particularly in elderly and immunocompromised patients—and long-term surveillance due to high recurrence risk and PNI is crucial. Full article

Introduction: Basal cell carcinoma (BCC) is the most frequently diagnosed skin cancer globally. Despite the well-established dermoscopic features of BCC, overlapping characteristics with other benign and malignant skin conditions cause challenges in differential diagnosis. Part III of this review highlights the role of dermoscopy in differential diagnosis, treatment planning, therapy monitoring and the integration of novel technologies including ultraviolet-induced fluorescence dermoscopy (UVFD) and optical super-high magnification dermoscopy (OSHMD). Methods: A search of the PubMed database was conducted for studies reporting on advances in the dermoscopic assessment of BCC, including differential diagnosis, treatment, monitoring and novel diagnostic technologies. Results: Even entities with well-defined dermoscopic features distinguishing them from BCC can sometimes mimic BCC. Additionally, rare lesions such as neurothekeoma, reticulohistiocytoma, solitary circumscribed neuroma, dermal leiomyosarcoma and various adnexal tumors often remain dermoscopically indistinguishable from BCC, which underscores the importance of histopathology as the diagnostic gold standard. Dermoscopy aids in delineating the tumor margins, optimizing Mohs micrographic surgery (MMS) and traditional excision. It may also help to monitor therapeutic effects by detecting the disappearance of BCC patterns, the presence of residual tumor or recurrences. Dermoscopy may aid in the prediction of therapeutic responses to imiquimod, photodynamic therapy or vismodegib. UVFD and OSHMD appear to be valuable complementary diagnostic techniques for detecting BCC. UVFD seems to be particularly valuable for the detection of small tumors (<5 mm), facial lesions and nodular or non-pigmented BCC subtypes, while OSHMD is useful for the assessment of superficial and non-pigmented BCCs. Three-dimensional total-body photography enhances diagnostic precision but, so far, only when used in combination with traditional dermoscopy. Conclusions: Dermoscopy is valuable for margin delineation, therapy monitoring and differential diagnosis but can be inconclusive, which highlights the role of histopathology as the gold standard. Modifications in dermoscopy technique may further enhance its accuracy. Full article

The accurate diagnosis of adnexal masses is a critical challenge in gynecological practice. Current ultrasound-based models, such as the ADNEX model, IOTA Simple Rules, and O-RADS, have demonstrated good diagnostic performance but are limited by the inclusion of demographic factors and solid confounding lesions. This study aimed to develop and validate a novel ultrasound score (ECO-SCORE) for cystic and solid-cystic lesions based solely on imaging characteristics to improve diagnostic accuracy and applicability in clinical practice. Methods: We conducted a retrospective study on 330 women diagnosed with adnexal masses, including 251 benign and 79 malignant cases. Ultrasound features were analyzed using logistic regression to identify key predictors of malignancy. A new scoring model was developed, excluding demographic or tumor-marker data. Diagnostic performance metrics, including sensitivity, specificity, AUC, and odds ratios, were calculated and compared to existing models using a testing set (20% of the data). Results: The ECO-SCORE achieved an AUC of 97.08%, outperforming ADNEX model (87.5%), IOTA Simple Rules (85.7%), and O-RADS (87.5%). Sensitivity and specificity were 92.98% and 88.88%, respectively, with an odds ratio of 106. Key predictors included irregular contour, absence of acoustic shadows, vascularization within solid areas, and vascularization of papillae. Conclusions: The ECO-SCORE demonstrated superior diagnostic accuracy compared to established models, highlighting its potential as a reliable tool for assessing adnexal masses using ultrasound features exclusively. Further multicenter validation is needed to confirm its robustness across different clinical settings. Full article

Background and Clinical Significance: Spiradenoma is a rare benign skin adnexal tumor with unknown incidence and prevalence, typically affecting young to middle-aged adults without a sexual predilection. Case Presentation: A 59-year-old woman presented with a palpable lesion in the suprapubic region that had been there for 20 years and had become enlarged over the past 2 months. Physical examination revealed a firm, non-tender, subcutaneous mass, approximately 2 cm in size, in the right pubic region. Ultrasound revealed a hypoechoic, heterogeneous lesion with a well-defined border, measuring 2.37 × 0.94 × 1.67 cm, without hypervascularity. Therefore, the patient underwent excision of the subcutaneous tumor. The pathology report confirmed the diagnosis of spiradenoma of the pubis. Histochemistry showed that the inner luminal cells were positive for CK7, and the outer basaloid cells were positive for p63. CD56 and CD117 were focally positive. Conclusions: With an accurate diagnosis and appropriate surgical excision, the prognosis for spiradenoma is generally excellent. However, a long-term follow-up is advisable. Full article

PRAME (PReferentially expressed Antigen in MElanoma) is a tumor-associated antigen first identified in tumor-reactive T-cell clones derived from a patient with metastatic melanoma. Immunohistochemistry (IHC) for PRAME is useful for diagnostic purposes to support a suspected diagnosis of melanoma. Anecdotally, PRAME has been observed to stain sebaceous units in glands in background skin. We examined the expression of PRAME in adnexal lesions and common skin cancers to determine whether it is of potential diagnostic utility in supporting the differentiation between sebaceous and non-sebaceous lesions. IRB approval from Mount Sinai Medical Center (MSMC) was obtained. This is a single-center retrospective cohort analysis over a ten-year period (1 January 2012, and 31 December 2023). We used the pathological database of skin lesions, including sebaceous, sweat gland, and follicular lesions, in addition to basal cell carcinomas (BCCs) and squamous cell carcinomas (SCCs), from 81 patients who underwent shave/punch biopsies or surgical excisions. We evaluated the IHC staining percentage positivity and intensity for PRAME. Staining intensity was subcategorized into negative, weak, moderate, and strong, whereas expression percentage positivity was subcategorized into 0%, 1–25%, 26–50%, 51–75%, and 76–100%. Most sebaceous versus non-sebaceous lesions exhibited cytoplasmic staining of moderate to strong intensity in >75% of cells. PRAME has a sensitivity and specificity of 100.0% and 86.7%, respectively, to support distinguishing between sebaceous and non-sebaceous adnexal lesions (regardless of whether they are benign or malignant). BCCs and SCCs showed weak to moderate nuclear staining for PRAME in >75% of cells. None of the 13 lesions of hair follicle origin showed any staining. A total of 26 of the 32 lesions of sweat gland origin were negative while 6 (18.75%) showed positive staining. In conclusion, we confirm the potential utility of PRAME for supporting the distinction between sebaceous and non-sebaceous adnexal lesions on one hand, and on the other, distinguishing BCC and SCC that may show nuclear staining from sebaceous carcinoma that shows cytoplasmic staining. Full article

The dermoscopic rainbow pattern (RP), also known as polychromatic pattern, is characterized by a multicolored appearance, resulting from the dispersion of polarized light as it penetrates various tissue components. Its separation into different wavelengths occurs according to the physics principles of scattering, absorption, and interference of light, creating the optical effect of RP. Even though the RP is regarded as a highly specific dermoscopic indicator of Kaposi’s sarcoma, in the medical literature, it has also been documented as an atypical dermoscopic finding of other non-Kaposi skin entities. We aim to present two distinct cases—a pigmented basal cell carcinoma (pBCC) and an aneurysmatic dermatofibroma—that exhibited RP in dermoscopy and to conduct a thorough review of skin conditions that display RP, revealing any predisposing factors that could increase the likelihood of its occurrence in certain lesions. We identified 33 case reports and large-scale studies with diverse entities characterized by the presence of RP, including skin cancers (Merkel cell carcinoma, BCC, melanoma, etc.), adnexal tumors, special types of nevi (blue, deep penetrating), vascular lesions (acroangiodermatitis, strawberry angioma, angiokeratoma, aneurismatic dermatofibromas, etc.), granulation tissue, hypertrophic scars and fibrous lesions, skin infections (sporotrichosis and cutaneous leishmaniasis), and inflammatory dermatoses (lichen simplex and stasis dermatitis). According to our results, the majority of the lesions exhibiting the RP were located on the extremities. Identified precipitating factors included the nodular shape, lesion composition and vascularization, skin pigmentation, and lesions’ depth and thickness. These parameters lead to increased scattering and interference of light, producing a spectrum of colors that resemble a rainbow. Full article

Objective: To evaluate the accuracy of the O-RADS system in differentiating between benign and malignant adnexal masses, as assessed by inexperienced gynecologists. Methods: Ten gynecologic residents attended a 20 h training course on the O-RADS system conducted by experienced examiners. Following the training, the residents performed ultrasound examinations on patients admitted with adnexal masses under supervision, recording the data in a database that included videos and still images. The senior author later accessed this ultrasound database and presented the cases offline to ten residents for O-RADS rating, with the raters being blinded to the final diagnosis. The efficacy of the O-RADS system by the residents and inter-observer variability were assessed. Results: A total of 201 adnexal masses meeting the inclusion criteria were evaluated, consisting of 136 (67.7%) benign masses and 65 (32.3%) malignant masses. The diagnostic performance of the O-RADS system showed a sensitivity of 90.8% (95% CI: 82.2–96.2%) and a specificity of 86.8% (95% CI: 80.4–91.8%). Inter-observer variability in scoring was analyzed using multi-rater Fleiss Kappa analysis, yielding Kappa indices of 0.642 (95% CI: 0.641–0.643). The false positive rate was primarily due to the misclassification of solid components in classic benign masses as O-RADS-4 or O-RADS-5. Conclusions: The O-RADS system demonstrates high diagnostic performance in distinguishing benign from malignant adnexal masses, even when used by inexperienced examiners. However, the false positive rate remains relatively high, mainly due to the over-interpretation of solid-appearing components in classic benign lesions. Despite this, inter-observer variability among non-expert raters was substantial. Incorporating O-RADS system training into residency programs is beneficial for inexperienced practitioners. This study could be an educational model for gynecologic residency training for other systems of sonographic features. Full article

Undifferentiated pleomorphic sarcoma (UPS) is an aggressive soft tissue sarcoma with a poor prognosis. The patients are usually found to have metastasis when the primary tumor is diagnosed. Eccrine syringofibroadenoma (ESFA) is a rare cutaneous adnexal lesion of eccrine duct origin. There are five subtypes, one of which is reactive ESFA, known to occur in reaction to an inflammatory or neoplastic process. In this article, we report a case of the co-existence of both UPS and ESFA in a 70-year-old male patient, presenting with a painless, erythematous, irregular surface nodule with a peripherally extended brownish hyperkeratotic plaque on the right palm. The histologic findings revealed an ill-defined dermal tumor of atypical epithelioid and spindle-shaped cells with large pleomorphic hyperchromatic nuclei and abundant eosinophilic cytoplasm. Some of those cells were multinucleated giant cells in the stroma with vascular proliferation and mixed inflammatory cell infiltrate. The tumor cells, which were only positive for vimentin, supported the diagnosis of undifferentiated pleomorphic sarcoma (UPS). Meanwhile, the overlying epidermis demonstrated hyperkeratosis, papillated epidermal hyperplasia, and proliferation of anastomosing slender cords and strands of cuboid cells within loose fibrovascular stroma. These findings are the characteristics of eccrine syringofibroadenoma (ESFA). We describe here a patient in whom reactive ESFA occurred on and surrounded the UPS tumor. Full article

The diagnosis of basal cell carcinoma (BCC) in dark phototypes can be a challenging task due to the lack of relevant clues and its variable presentation. In this regard, there is growing evidence that dermoscopy may benefit the recognition of BCC even for skin of color (SoC). The objective of this review is to provide an up-to-date overview on clinical and dermoscopic patterns of BCC in SoC, also comparing such findings with those of the main clinical mimickers reported in the literature. A comprehensive search of the literature through the PubMed electronic database was carried out in order to identify papers describing the clinical and dermoscopic features of BCC in dark phototypes (IV–VI). By finding macroscopic clinical presentations of BCCs in SoC patients and any possible clinical mimickers considered in the retrieved papers, we built a differential diagnosis list and analyzed the dermoscopic findings of such conditions to facilitate the diagnosis of BCC. BCC in darker skin may present as pigmented nodular lesions, pigmented patches or plaques, ulcers, erythematous nodular lesions, erythematous plaques or patches, or scar-like lesions, depending on its subtype and body site. The differential diagnosis for BCC in patients with SoC includes squamous cell carcinoma, melanoma, nevi, adnexal tumors and sebaceous keratosis. Additionally, it differs from that of Caucasians, as it also includes lesions less common in fair skin, such as dermatosis papulosa nigra, melanotrichoblastoma, and pigmented dermatofibrosarcoma protuberans, and excludes conditions like actinic keratosis and keratoacanthoma, which rarely appear in darker skin. The resulting differences also include infectious diseases such as deep cutaneous mycosis and inflammatory dermatoses. The most prevalent differentiating dermoscopic feature for BCC includes blue, black and gray dots, though arborizing vessels still remain the predominant BCC feature, even in dark phototypes. Diagnostic approach to BCC in dark-skinned patients varies due to the prevalence of dermoscopy findings associated with hyperpigmented structures. Clinicians should be aware of such points of differentiation for a proper management of this tumor in SoC. Full article

Background: Non-melanocytic benign skin tumours encompass a diverse group of lesions, classified based on their cellular origin, such as epidermal, vascular, fibrous, neural, muscle, and adnexal tumours. Though they often reveal solitary lesions, multiple skin tumours focus on genodermatoses. Each syndrome exhibits distinct clinical characteristics and potential complications, including cutaneous and extra-cutaneous malignancies, some of which are potentially life-threatening. Diagnosing genetic syndromes is complex and requires numerous histopathological and immunohistochemistry tests due to similarities between the adnexal tumours and basal cell carcinoma upon pathology. Methods: To illustrate the clinical practice, we conducted a retrospective case study that included eleven patients with genodermatoses referred to a tertiary dermatology clinic from September 2018 to April 2024. We have also conducted a research study on available treatment modalities in this setting. Results: Five patients with excellent aesthetic results were treated using a recently approved FDA plasma device. After searching SCOPUS and PubMed database records, we assessed 96 original articles to present current knowledge regarding the dermato-surgical approach. Conclusions: Multiple skin tumours, especially on the face, may significantly affect patients’ quality of life and have psychological consequences. An appropriate treatment selection tailored to the patient’s needs should be provided. There is no standardised treatment for multiple benign tumours in genodermatoses, and selected methods with varying efficacy are employed. We presented the utility of a new plasma device in these settings. Full article

Background: DICER1, a cancer predisposition syndrome (CPS), seems to escape timely diagnosis in pediatric patients. Case report 1: A 16-year-old female patient was referred to the endocrinology ward due to a large goiter. Her medical history indicated normal sexual maturation, with menarche occurring at 13.5 years. Over the past 2.5 years, she had developed pronounced androgenic symptoms, including a deepened male voice; facial, back, and neckline acne; hirsutism; and menstrual irregularities leading to secondary amenorrhea. A thyroid ultrasound identified a multinodular goiter (MNG) with cystic–solid lesions containing calcifications. An abdominal ultrasound identified a 5.7 × 6.9 cm solid mass in the right adnexal region, displacing the uterus to the left. Histopathological examination confirmed a Sertoli–Leydig cell tumor. The patient was subjected to a total thyroidectomy. Histopathology revealed benign follicular cell-derived neoplasms. Thyroid follicular nodular disease (TFND) was diagnosed bilaterally. DNA analysis using NGS, confirmed via the Sanger method, revealed a pathogenic heterozygotic variant c.2953C>T [p.Gln985*] in exon 18 of the DICER1 gene. Case report 2: A 12-year-old male patient was admitted to the pediatric surgery unit due to a 33 mL goiter. A month prior to his admission, the patient discovered a palpable nodule in his neck, accompanied by hoarseness. An ultrasound revealed MNG. Molecular analysis revealed a pathogenic heterozygotic variant c.2782C>T [p.Gln928*] in exon 17 of the DICER1 gene. Subsequently, a total thyroidectomy was performed, and histopathological examination revealed TFND bilaterally. Conclusions: Recent advances in genetic evaluation and in histological approaches indicate that MNG/TFND, although rare in the pediatric population, when accompanied by characteristic ultrasound and histopathological features, and by additional features such as androgenization, may warrant assessment also of the DICER1 gene within CPS molecular panel screening. Full article