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Revista Espanola de Enfermedades... Nov 2023Gastrointestinal bleeding of obscure origin accounts for less than 5% of gastrointestinal hemorrhages. It is typically difficult to diagnose due to limited accessibility...
Gastrointestinal bleeding of obscure origin accounts for less than 5% of gastrointestinal hemorrhages. It is typically difficult to diagnose due to limited accessibility through standard endoscopic techniques and generally requires a significant number of procedures to reach a diagnosis. The "blue rubber bleb nevus syndrome" is a rare condition, of a probably hereditary origin, characterized by the presence of multiple hemangiomatous lesions, which can manifest as gastrointestinal bleeding of obscure origin. These lesions are generally nodular, rubbery to the touch, and have a submucosal appearance, primarily affecting the skin and gastrointestinal tract. We present the case of a 72-year-old male who was investigated for iron deficiency anemia with upper and lower gastrointestinal endoscopies conducted on two occasions, without revealing any findings that could explain the condition. Subsequently, a study with video-capsule endoscopy was performed, which revealed multiple submucosal and vascular lesions, measuring between 3-5 mm, located in the distal duodenum and jejunum, consistent with "Blue rubber bleb nevus syndrome".
Topics: Male; Humans; Aged; Skin; Anemia, Iron-Deficiency; Capsule Endoscopy; Gastrointestinal Hemorrhage
PubMed: 37882205
DOI: 10.17235/reed.2023.9913/2023 -
Actas Dermo-sifiliograficas 2023Melanoma arising in blue nevus, also known as melanoma ex blue nevus, is a specific form of melanoma whose genetic profile is different to that of other cutaneous...
Melanoma arising in blue nevus, also known as melanoma ex blue nevus, is a specific form of melanoma whose genetic profile is different to that of other cutaneous melanomas and surprisingly similar to that of uveal melanoma. Although melanoma ex blue nevus can appear de novo, it usually arises in a preexisting blue nevus or dermal melanocytosis. Not all nodular lesions arising in association with blue nevus or dermal melanocytosis are melanomas, however, and because clinical and histologic findings may be insufficient for a definitive diagnosis, additional studies such as comparative genomic hybridization are important. Detection of chromosomal aberrations supports a diagnosis of malignancy. Studies of the BAP1 gene are particularly useful in this setting because loss of expression is indicative of melanoma. We present 3 cases on the spectrum of blue nevus to melanoma ex blue nevus that were studied using molecular biology techniques.
Topics: Humans; Nevus, Blue; Prognosis; Comparative Genomic Hybridization; Melanoma; Skin Neoplasms; Tumor Suppressor Proteins; Ubiquitin Thiolesterase
PubMed: 37088284
DOI: 10.1016/j.ad.2023.04.016 -
Journal of Clinical Medicine Feb 2024Agmination and/or satellitosis in pigmented blue lesions is a phenomenon rarely mentioned in the literature and not well known. This phenomenon can be expressed by...
Agmination and/or satellitosis in pigmented blue lesions is a phenomenon rarely mentioned in the literature and not well known. This phenomenon can be expressed by several benign and malignant pigmented blue lesions, such as blue nevi, Spitz nevi, melanocytoma and melanoma. On this spectrum, dermoscopy, reflectance confocal microscopy (RCM) and dynamic Optical coherence tomography (D-OCT) represent non-invasive imaging technologies, which may help clinicians in the diagnosis of melanoma and non-melanoma skin cancers in daily clinical practice. Currently, in the literature there is a lack of new data about agminated blue lesions and blues lesions with satellitosis, as well as the lack of a recent and updated review of the literature about this topic. Therefore, considering that clinicians must be confident with the diagnosis of these rare skin lesions, we decided to carry out this work. In this paper, four new cases of agminated pigmented cutaneous lesions were described. Moreover, a review of the current literature on this topic was performed. A clinical-pathological correlation is often needed to reach a correct diagnosis; currently, dermoscopy and non-invasive diagnostic techniques, such as reflectance confocal microscopy and optical coherence tomography, due to the depth of these skin lesions in the dermis, can only make a partial and limited contribution.
PubMed: 38337588
DOI: 10.3390/jcm13030894 -
Diagnostics (Basel, Switzerland) Jun 2023Super-high (×400) magnification dermoscopy (D400) is a new non-invasive imaging technique that has been shown to add information for the differential diagnosis of...
Super-high (×400) magnification dermoscopy (D400) is a new non-invasive imaging technique that has been shown to add information for the differential diagnosis of melanocytic lesions in a pilot study. Our study aimed to confirm if D400 can add details for the discrimination of clinically atypical nevus and melanoma. This is a retrospective observational, multicentric study enrolling patients who received ×20 (D20) and ×400 (D400) magnification dermoscopic examinations of pigmented skin lesions. Dermoscopic images were retrospectively evaluated by three observers for the presence/absence of nine D20 and twenty D400 dermoscopic features defined in the previous pilot study. Univariate and multivariate analyses were carried out to find predictors of benign and malignant behaviors. At D20, an atypical pigment network, blue-whitish veil, atypical vascular pattern, regression, and homogenous pattern were more frequent in melanoma than in nevi ( < 0.001). At D400, melanoma showed more frequently than benign lesions, melanocytes with an irregular arrangement and irregular in shape and size ( < 0.001). A network with edged papillae was more frequent in benign lesions than melanomas ( < 0.001). Our study confirms that D400 can identify melanocytes with an irregular arrangement, and irregularities in shape and size in melanomas, adding information to the conventional D20 examination.
PubMed: 37443632
DOI: 10.3390/diagnostics13132238 -
Cancers Dec 2023Congenital tumors are rare and, owing to this rarity, there is limited information on many of them. A total of 839 fetal and postnatal MRI studies performed in the first...
Congenital tumors are rare and, owing to this rarity, there is limited information on many of them. A total of 839 fetal and postnatal MRI studies performed in the first 3 months of life were retrospectively reviewed. They were performed with the use of 1.5 T scanners. Seventy-six tumors were diagnosed based on fetal MRI between 20 and 37 gestational weeks, and 27 were found after birth, from 1 day of age to 3 months of life. Teratomas were the most common tumors in our dataset, mainly in the sacrococcygeal region (SCT), followed by cardiac rhabdomyomas and subependymal giant cell astrocytomas (SEGA) associated with TSC, and neuroblastomas. The group of less common tumors consisted of infantile fibrosarcomas, malignant rhabdoid tumors, mesoblastic nephromas and Wilms tumor, craniopharyngiomas, brain stem gliomas, desmoplastic infantile astrocytoma, choroid plexus carcinoma, glioblastoma, hemangiopericytoma, rhabdomyosarcoma, melanoma, mesenchymal hamartomas of the chest wall and the liver, and juvenile xanthogranuloma, with special consideration of blue rubber bleb nevus syndrome. MRI plays a significant role in further and better characterization of congenital tumors, leading to a correct diagnosis in many cases, which is crucial for pregnancy and neonatal management and psychological preparation of the parents. No diagnosis is impossible and can be absolutely excluded.
PubMed: 38201471
DOI: 10.3390/cancers16010043