RESUMEN

Purpose: To report a rare case of a conjunctival blue nevus in a child. Observations: A 10-year-old girl underwent an excisional biopsy for an atypical growing melanocytic conjunctival lesion. The diagnosis of a conjunctival blue nevus was confirmed on histopathology. We describe the histopathology and the anterior segment optical coherence tomography features of a blue nevus in a 10-year-old child along with a review of literature. Conclusion and importance: Conjunctival blue nevus is rare and has rarely been reported in a child. Multimodal imaging may help document lesion progression. This condition should remain in the differential for a growing, pigmented conjunctival lesion.

RESUMEN

This article describes a clinical case of a female patient with choroidal nevus, who was previously diagnosed in another clinic with "subretinal neovascular membrane as a result of central serous chorioretinopathy" and subsequently underwent multiple intravitreal anti-VEGF injections. Based on the analysis of OCT angiography images, the macular changes in this case were interpreted as a polypoidal form of neovascularization in a patient with subfoveolar choroidal nevus.

Asunto(s)

RESUMEN

Congenital melanocytic nevus is a benign proliferation seen from birth. However, malignant transformation can be observed in later ages, so the removal of especially large and giant nevi is recommended during childhood. Nevertheless, there are no cases reported in the literature regarding excision of giant congenital melanocytic nevi in advanced age. This article presents the first case of a 39-year-old patient with a giant congenital melanocytic nevus covering 10% of the total body surface area, who underwent treatment with a 2-step operation. The nevus was located on the back, covering 10% of the total body surface area. The patient underwent en-bloc excision. A bilayer dermal matrix was applied over the fascia. Subsequently, a split-thickness skin graft was applied to the entire area. Full re-epithelialization was achieved within a total of 35 days. Thanks to the applied dermal scaffold, the area became pliable.

RESUMEN

A 42-year-old darkly pigmented woman presented at our emergency department with complaints of pruritus, foreign body sensation, and blurry vision. Besides findings compatible with mild dry eye disease, anterior segment examination revealed dark pigmented, ill-defined areas of the conjunctiva surrounding the temporal limbus and temporal bulbar conjunctiva in the left eye and involving the superior and inferior tarsal conjunctiva in both eyes. The patient reported no recent changes in these lesions. A diagnosis of complexion-associated melanosis in the palpebral conjunctiva of both eyes and primary acquired melanosis in the bulbar conjunctiva of the left eye was assumed, and the patient was placed under regular follow-up. Preservative-free tears were also recommended for her dry eye condition. Conjunctival pigmented lesions are a common finding during ophthalmologic evaluations. They pose a significant diagnostic challenge due to the wide array of differential diagnoses and the concern of misdiagnosing melanoma. A comprehensive clinical history and multidisciplinary evaluation are crucial in managing these cases.

RESUMEN

The new revised MPATH-Dx (Version 2.0) reporting schema for melanocytic lesions is presented herein. Principal changes include the simplification of the previous five-class Version 1.0 to a four-class hierarchy of melanocytic lesions to improve diagnostic agreement and to provide more explicit guidance in the management of patients. Version 2.0 also has clearly defined histopathological criteria for classification of Class I and II lesions now designated as low-grade (mild to moderate) atypia and high-grade (high-end moderate to severe) atypia, respectively. This new revised schema, also includes specific provisions for the less common WHO pathways to melanoma, provides guidance for classifying "intermediate" Class II tumors (melanocytomas), and recognizes a subset of pT1a melanomas with very low risk and possible eventual reclassification as a neoplasm falling short of fully-evolved melanoma.

RESUMEN

Malignant blue melanomas (MBMs) arise from blue nevi and all related intradermal melanocytic proliferations. They harbor specific, mutually exclusive mutations in the G-coupled protein pathway, mainly involving GNAQ or GNA11. Other rare genetic drivers include CYSLTR2 or PCLB4 mutations. PKC and GRM1-gene fusions have been recently added to this list. MBMs have a predilection for the scalp area, presenting as rapidly growing nodules within a pre-existing lesion. Histopathologically, these tumors are located in the dermis and subcutaneous fat and consist of large nodules or expanding dense sheets. Tumor necrosis is commonly seen. Large spindle-shaped and epithelioid melanocytes with high-grade cytological atypia and frequent mitotic figures are at higher magnification. A benign blue nevus or intermediate-grade blue melanocytoma is frequently found on the side of the central mass. Loss of nuclear BAP1 immunoreactivity is a poor prognostic factor.

RESUMEN

Introduction: Nodal metastasis (NM) in sentinel node biopsies (SNB) is crucial for melanoma staging. However, an intra-nodal nevus (INN) may often be misclassified as NM, leading to potential misdiagnosis and incorrect staging. There is high discordance among pathologists in assessing SNB positivity, which may lead to false staging. Digital whole slide imaging offers the potential for implementing artificial intelligence (AI) in digital pathology. In this study, we assessed the capability of AI to detect NM and INN in SNBs. Methods: A total of 485 hematoxylin and eosin whole slide images (WSIs), including NM and INN from 196 SNBs, were collected and divided into training (279 WSIs), validation (89 WSIs), and test sets (117 WSIs). A deep learning model was trained with 5,956 manual pixel-wise annotations. The AI and three blinded dermatopathologists assessed the test set, with immunohistochemistry serving as the reference standard. Results: The AI model showed excellent performance with an area under the curve receiver operating characteristic (AUC) of 0.965 for detecting NM. In comparison, the AUC for NM detection among dermatopathologists ranged between 0.94 and 0.98. For the detection of INN, the AUC was lower for both AI (0.781) and dermatopathologists (range of 0.63-0.79). Discussion: In conclusion, the deep learning AI model showed excellent accuracy in detecting NM, achieving dermatopathologist-level performance in detecting both NM and INN. Importantly, the AI model showed the potential to differentiate between these two entities. However, further validation is warranted.

RESUMEN

Diagnosing solitary pink skin lesions poses a significant challenge due to the scarcity of specific clinical and dermoscopic criteria. Several benign lesions, such as cherry angioma, clear cell acanthoma, dermal nevus, keloid, hypertrophic scar, and Spitz nevus, often exhibit similar clinical and dermoscopic features. This similarity extends to some malignant lesions, including basal cell carcinoma, actinic keratosis, and amelanotic melanoma, making differentiation difficult. Recent studies highlight the enhanced diagnostic accuracy of reflectance confocal microscopy (RCM), which offers increased sensitivity and specificity compared to dermoscopy alone for diagnosing skin cancer. This study aims to summarize the application of dermoscopy and RCM in distinguishing between benign and malignant pinkish-reddish skin lesions. The integration of RCM with traditional dermoscopic techniques improves the ability to accurately identify and differentiate these lesions. However, it is crucial to note that for any suspicious lesions, a final diagnosis must be confirmed through surgical excision and histopathological evaluation. This comprehensive approach ensures accurate diagnosis and appropriate treatment, highlighting the importance of combining advanced imaging techniques in clinical practice.

RESUMEN

Melanoma is the most severe type of skin cancer and among the most malignant neoplasms in humans. With the growing incidence of melanoma, increased numbers of therapeutic options, and the potential to target specific proteins, understanding the basic mechanisms underlying the disease's progression and resistance to treatment has never been more important. LOXL3, SNAI1, and NES are key factors in melanoma genesis, regulating tumor growth, metastasis, and cellular differentiation. In our study, we explored the potential role of LOXL3, SNAI1, and NES in melanoma progression and metastasis among patients with dysplastic nevi, melanoma in situ, and BRAF+ and BRAF- metastatic melanoma, using immunofluorescence and qPCR analysis. Our results reveal a significant increase in LOXL3 expression and the highest NES expression in BRAF+ melanoma compared to BRAF-, dysplastic nevi, and melanoma in situ. As for SNAI1, the highest expression was observed in the metastatic melanoma group, without significant differences among groups. We found co-expression of LOXL3 and SNAI1 in the perinuclear area of all investigated subgroups and NES and SNAI1 co-expression in melanoma cells. These findings suggest a codependence or collaboration between these markers in melanoma EMT, suggesting new potential therapeutic interventions to block the EMT cascade that could significantly affect survival in many melanoma patients.

Asunto(s)

RESUMEN

BACKGROUND: One of the hereditary syndromes associated with multiple early-onset basal cell carcinomas (BCCs) is basal cell nevus syndrome (BCNS), of which a minority is caused by germline SUFU mutations. Germline SUFU mutations show a spectrum of phenotypes, of which multiple hereditary infundibulocystic basal cell carcinoma syndrome (MHIBCC) is one. Patients with MHIBCC develop multiple basaloid skin tumors from middle age onwards. METHODS: Three patients presenting with an MHIBCC phenotype were tested for a germline SUFU mutation. Skin biopsies were assessed by two dermatopathologists. RESULTS: Our study adds three new pathogenic SUFU variants, including a mosaic, to the current literature. Literature suggests a spectrum of phenotypes of patients carrying the same SUFU mutation, which ranges from the MHIBCC phenotype, to BCNS, to patients that develop life-threatening brain tumors. This last risk is significantly higher in germline SUFU mutation carriers when compared to BCNS patients carrying germline PTCH1 mutations. CONCLUSIONS: Germline SUFU mutation carriers should be recognized as a distinct group of patients carrying specific health risks, independent of meeting the BCNS criteria. Phenotypic prediction based on the specific SUFU mutation seems unfeasible. It is of utmost importance that the less apparent MHIBCC phenotype is recognized, to provide (second generation) germline SUFU mutation carriers appropriate healthcare.

RESUMEN

BACKGROUND: Congenital melanocytic nevus (CMN) is a benign skin lesion present from birth, which may present with a risk of malignant transformation if extensive. Curettage, a treatment method involving the removal of the superficial layer of the nevus, is often used in the early stages of life. However, recurrence of the nevus and postoperative scarring may present as problems. Additional treatments, such as resection and/or laser treatment, are regularly required after curettage, particularly in the craniofacial region. However, no systematic treatment strategy has been reported. This study investigated additional treatments used after curettage to treat CMN in the craniofacial region and compared the frequency of treatments with respect to specific sites. METHODS: CMN cases involving curettage as an initial treatment were retrospectively reviewed at Kyoto University Hospital between May 2019 and April 2022. RESULTS: This study comprised 23 cases. Curettage was performed at a mean of 3.8 (1-10) months of age. No additional treatments were provided for 80% of head CMN. Additional treatments were performed in all cases, including the forehead and cheek. Laser treatment was performed in 86% of eyelid CMN and 75% of nasal CMN. Tissue expansion and flap closure were used in 33% of forehead CMN and 33% of cheek CMN. CONCLUSIONS: Additional treatments used for CMN in the craniofacial region varied in accordance with the lesion site.

RESUMEN

Giant congenital melanocytic nevus often necessitates meticulous planning and multiple treatment stages for complete surgical excision. This report presents a case of giant congenital melanocytic nevus on the back managed through serial tissue expansion and excision. Initially, two expanders were placed at the deep fascia level. Sequential outpatient expansions over 10 weeks were followed by expander removal, partial nevus excision, defect coverage with expanded skin flaps, and simultaneous placement of a new expander. The subsequent single expander expansion over 12 weeks involved a total of 600 mL of saline. After three operations spanning approximately 6 months, 54 cm × 36 cm of giant congenital melanocytic nevus skin, covering 65% of the patient's back, was completely excised. Serial tissue expansion and excision may be an effective surgical approach for managing dorsal giant congenital melanocytic nevus, reducing the need for multiple surgeries and achieving favorable aesthetic outcomes.

RESUMEN

Inflammatory juvenile conjunctival nevi (IJCN) is a rare type of nevus and its clinical presentation overlaps with that of malignant conjunctival melanoma. It is a benign lesion that has been described to progress to melanoma in some cases. IJCN may clinically mimic melanoma due to its rapid growth features and atypical histology. Thus, its accurate diagnosis by histopathology is a prerequisite for proper management. Here, we present a case of conjunctival lesion mimicking melanoma clinically.

RESUMEN

AIMS: The distinction between the benign subungual melanocytic lesions and an early lesion of subungual melanoma (SUM) remains a diagnostic challenge. We evaluated the routine diagnostic utility of array Comparative Genomic Hybridization (aCGH) to detect whole-genome copy number variations (CNV) as well as targeted next-generation sequencing (NGS) in SUM. METHODS AND RESULTS: This retrospective study included 20 cases of in situ SUM and 11 cases of invasive SUM. Analysis by aCGH detected common oncogene amplifications in all but one case of invasive SUM (n = 10) and in all cases of in situ SUM with a melanocyte count (MC) >45/mm (n = 4 true positive) and the average number of CNV was 8.5. Thirteen remaining cases of in situ SUM gave false negative results (n = 13), owing to a lack of sufficient melanocytes to analyse (median MC of 35.35; range: 10.16-39.5). Molecular analysis failed in four cases (three in situ SUM and one invasive SUM) due to insufficient amounts of DNA. Across the whole cohort, the sensitivity of aCGH was 52%, but when adjusting the cutoff to MC >45/mm, the sensitivity was 93%. Targeted NGS was less informative than aCGH analyses in our series of SUM. CONCLUSION: To distinguish malignant from benign lesions, especially in situ SUM versus atypical lentiginous melanocytic proliferations, aCGH analysis should be performed when the MC is above 45 melanocytes per linear millimetre. This pangenomic method can detect oncogene amplifications, as well as a number of CNV >3, which strongly support the diagnosis of malignancy.

RESUMEN

Automated region of interest detection in histopathological image analysis is a challenging and important topic with tremendous potential impact on clinical practice. The deep learning methods used in computational pathology may help us to reduce costs and increase the speed and accuracy of cancer diagnosis. We started with the UNC Melanocytic Tumor Dataset cohort which contains 160 hematoxylin and eosin whole slide images of primary melanoma (86) and nevi (74). We randomly assigned 80% (134) as a training set and built an in-house deep learning method to allow for classification, at the slide level, of nevi and melanoma. The proposed method performed well on the other 20% (26) test dataset; the accuracy of the slide classification task was 92.3% and our model also performed well in terms of predicting the region of interest annotated by the pathologists, showing excellent performance of our model on melanocytic skin tumors. Even though we tested the experiments on a skin tumor dataset, our work could also be extended to other medical image detection problems to benefit the clinical evaluation and diagnosis of different tumors.

RESUMEN

Introduction: Conjunctival cysts are usually asymptomatic but they can cause foreign body sensation and contribute to dry eye disease. The purpose of this case report is to describe the presentation and treatment of an infected inclusion cyst of a conjunctival nevus in a healthy 36-year-old patient. Case Presentation: A healthy 36-year-old man presented to the emergency department for redness and pain in his left eye for 1 day. Slit-lamp examination revealed a conjunctival hyperemia and a conjunctival nevus with 4 inclusion cysts, one of which was filled with purulent material. Fluorescein staining of the conjunctival epithelium was negative. Α mini-incision of the white cyst was performed using a 30 G needle, followed by bimanual drainage and topical treatment with tobramycin and moxifloxacin drops every 3 h for a week. A swab of the purulent drainage was positive for gram-positive flora. One week after the drainage of the cyst, the patient was asymptomatic and on slit-lamp examination, the 4 inclusion cysts were filled with a transparent liquid, there was not any vessel dilation and fluorescein staining was negative. Conclusion: Conjunctival inclusion cysts, although considered benign, can become infected and form a conjunctival abscess. A mini-incision on the slit lamp combined with bimanual drainage and followed by topical antibiotic drops seems to be a safe and effective treatment.

RESUMEN

NRAS Q61 mutations are driver genetic alterations associated with common melanocytic nevi. Herein, we describe a case of NRAS-mutant melanocytic tumor with a blue nevus-like morphology. A 71-year-old Japanese man presented with a 4.6-mm nodule on his back. Histopathological examination revealed a dense distribution of spindle-shaped melanocytes in the upper dermis and a sparse distribution of dendritic melanocytes in the mid-dermis. The vertical periadnexal extension reached the deep dermis at the center of the tumor. A small junctional component, hyperpigmentation, sclerotic stroma, mild nuclear atypia, and a few mitotic figures were observed. Immunohistochemical examination revealed no PRAME expression and preserved p16 expression. Diffuse RASQ61R immunoreactivity was observed in these tumor cells. Nuclear ß-catenin expression was not observed. Targeted RNA sequencing revealed two mutations, NRAS c.182A>G (Q61R) and FGFR2 c.-157A>G, but no other pathogenic alterations such as BRAF, GNAQ, GNA11, CTNNB1, PRKAR1A, or IDH1 mutations or kinase gene fusions. The histopathology fits that of compound-type blue nevus, which is called "Kamino nevus"; however, this tumor was genetically considered to be on the spectrum of conventional acquired melanocytic nevi but not on that of blue nevi. Morphologically, NRAS-driven melanocytic nevi resemble blue nevi without IDH1R132C coexistence.

RESUMEN

Introduction: Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital vascular disorder that affects the venous system. Lesions are multiple and involved not only the skin and subcutaneous tissue but also muscles, joints and organs such as the gastrointestinal tract. At present, little is known regarding its potential orthopedic complications. Case Report: We present a unique case of a patient with BRBNS displaying both intra-articular and extra-articular severe venous malformation (VM) of the hip. This extensive VM caused severe deformities in bone growth, mainly affecting the proximal femur, and impacted the muscular development of the gluteus medius and gluteus maximus. Its intra-articular extension, along with repeated secondary hemarthrosis, led to cartilaginous destruction. Consequently, the patient presented with significant coxa valga and developed acetabular dysplasia and subluxation of femoral head, during growth. In order to restore hip function and alleviate pain, the patient underwent a total hip arthroplasty (THA) at the age of 18. Discussion: The dysplastic changes in the hip joint observed in this case are attributed to the deleterious effects of VMs and coxa valga on joint anatomy and biomechanics. VMs induce recurrent hemarthrosis, leading to cartilage destruction and hip instability. Additionally, coxa valga alters hip biomechanics, exacerbating joint instability and accelerating wear. Surgical intervention with THA aimed to restore joint stability and function, although challenges arose due to anatomical complexities and limited prosthetic options. Conclusion: This is the first reported case of hip dysplasia associated with BRBNS. This case shows the involvement of vascular malformation in the development of hip dysplasia leading to total hip arthroplasty. The surgical planning and technique must take the specificity of this pathology into account to get the best result possible for the patient. This case illustrates the importance of a multidisciplinary approach to treat patients with this specific syndrome and adds valuable information to the limited literature on orthopedic complications in BRBNS.

RESUMEN

Multiple hereditary infundibulocystic basal cell carcinoma syndrome (MHIBCC), an autosomal dominant disorder caused by variants in SUFU, is characterized by numerous infundibulocystic basal cell carcinomas (IBCCs). In this report, we present a possible case of mosaic MHIBCC. A 57-year-old woman underwent the removal of four papules on her face, which were diagnosed as IBCCs. Exome sequencing revealed a SUFU c.1022+1G>A mutation within the skin tumor. The same mutation was detected in her blood but at a lower allele frequency. TA cloning revealed that the allele frequency of the mutation in the blood was 0.07. Additionally, tumor assessment revealed loss of heterozygosity (LOH) in chromosome 10, including the SUFU locus. These results indicate the patient had mosaicism for the SUFU mutation in normal tissues, aligning with the mosaic MHIBCC diagnosis. This, combined with LOH, likely contributed to IBCC development. Mosaic MHIBCC may present with milder symptoms. However, it may still increase the risk of developing brain tumors and more aggressive basal cell carcinoma. The possibility of mosaicism should be investigated in mild MHIBCC cases, where standard genetic tests fail to detect SUFU germline variants.