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Romanian Journal of Morphology and... 2010We report the case of a 69-year-old patient with no significant personal urological history. The clinical and ultrasound examination revealed a prostatic gland with...
We report the case of a 69-year-old patient with no significant personal urological history. The clinical and ultrasound examination revealed a prostatic gland with increased volume and homogenous appearance. After transurethral resection, multiples gray-brown-blackish prostatic chips were obtained, which could be confused with a malignant melanoma. The histological routine examination in conjunction with the histochemical (Fontana-Masson) and immunohistochemical (S100, HMB45) reactions established the diagnosis of prostatic blue nevus. The presence of melanin in prostatic tissue is an unusual aspect, being encountered three distinct lesions: blue nevus, melanosis and malignant melanoma. Recognition and correct classification of each of these three entities is fundamental, concerning the clinical and prognosis implications.
Topics: Aged; Dendritic Cells; Humans; Male; Nevus, Blue; Prostate; S100 Proteins; Skin Neoplasms; Stromal Cells
PubMed: 20809037
DOI: No ID Found -
Biomedicines Jun 2022Sporadic vascular malformations (VMs) are a large group of disorders of the blood and lymphatic vessels caused by somatic mutations in several genes-mainly regulating...
Sporadic vascular malformations (VMs) are a large group of disorders of the blood and lymphatic vessels caused by somatic mutations in several genes-mainly regulating the RAS/MAPK/ERK and PI3K/AKT/mTOR pathways. We performed a cross-sectional study of 43 patients affected with sporadic VMs, who had received molecular diagnosis by high-depth targeted next-generation sequencing in our center. Clinical and imaging features were correlated with the sequence variants identified in lesional tissues. Six of nine patients with capillary malformation and overgrowth (CMO) carried the recurrent somatic mutation p.Arg183Gln, while two had mutations. Unexpectedly, 8 of 11 cases of diffuse CM with overgrowth (DCMO) carried known mutations, and the remaining 3 had pathogenic variants. Recurrent mutations were identified in the patients with megalencephaly-CM-polymicrogyria (MCAP), CLOVES, and Klippel-Trenaunay syndrome. Interestingly, somatic mutations were associated with hand/foot anomalies not only in MCAP and CLOVES, but also in CMO and DCMO. Two patients with blue rubber bleb nevus syndrome carried double somatic mutations, two of which were previously undescribed. In addition, a novel sporadic case of Parkes Weber syndrome (PWS) due to an mosaic pathogenic variant was described. Finally, a girl with a mild PWS and another diagnosed with CMO carried pathogenic somatic variants, showing the variability of phenotypic features associated with mutations. Overall, our findings expand the clinical and molecular spectrum of sporadic VMs, and show the relevance of genetic testing for accurate diagnosis and emerging targeted therapies.
PubMed: 35740480
DOI: 10.3390/biomedicines10061460 -
Dermatology Practical & Conceptual Apr 2018Spark's nevus is a particular type of melanocytic nevus that on histology shows features of both Spitz's and Clark's nevus. Clinically, it is an asymmetric, irregular,...
Spark's nevus is a particular type of melanocytic nevus that on histology shows features of both Spitz's and Clark's nevus. Clinically, it is an asymmetric, irregular, multicolored, pigmented lesion that is not clearly distinguishable from melanoma or dysplastic (Clark's) nevus. Dermoscopic features have not been described yet, and one could speculate that they are similar to those of Clark's nevi because the histopathologic architecture of Spark's nevus is similar to that of a Clark's nevus, resembling Spitz's nevi in the epithelioid morphology of melanocytes. We present a 32-year-old woman with a Spark's nevus, who upon dermoscopy showed a pronounced atypical network with accentuation of the blue veil and mostly peripheral dots.
PubMed: 29785330
DOI: 10.5826/dpc.0802a11 -
Dermatopathology (Basel, Switzerland) Nov 2022Blue nevus is a benign melanocytic lesion, typically asymptomatic and of unknown etiology. Several histologic and clinical variants have been distinguished, the most...
Blue nevus is a benign melanocytic lesion, typically asymptomatic and of unknown etiology. Several histologic and clinical variants have been distinguished, the most frequent being common blue nevus, cellular blue nevus, and combined blue nevus. Although melanocytic nevi with a satellite lesion are usually suggestive of locally advanced malignant melanoma, very few cases of blue nevi with satellite lesions have been reported. The diagnosis of common or cellular blue nevi is generally straightforward; however, the presence of structures such as irregular edges or satellitosis are highly suggestive for malignancy, and differential diagnoses such as locally advanced malignant melanoma and malignant blue nevus should be considered. Recurrent blue nevi can display atypical features not seen in the primary lesion, such as pleomorphism and mitotic activity. They usually tend to follow a benign course; however, in some cases, recurrence may indicate malignant transformation. We here report the unique case of a 64-year-old woman with a recurrent cellular blue nevus accompanied by satellite lesions. Such a biological behavior resulting in a clinical presentation as a melanoma-like lesion is a rarity in blue nevus and has not been described before.
PubMed: 36412623
DOI: 10.3390/dermatopathology9040042 -
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 -
Anais Brasileiros de Dermatologia 2017Blue nevus is a benign melanocytic lesion whose most frequent variants are dendritic (common) blue nevus and cellular blue nevus. Atypical cellular blue nevus presents...
Blue nevus is a benign melanocytic lesion whose most frequent variants are dendritic (common) blue nevus and cellular blue nevus. Atypical cellular blue nevus presents an intermediate histopathology between the typical and a rare variant of malignant blue nevus/melanoma arising in a cellular blue nevus. An 8-year-old child presented a pigmented lesion in the buttock since birth, but with progressive growth in the last two years. After surgical excision, histopathological examination revealed atypical cellular blue nevus. Presence of mitoses, ulceration, infiltration, cytological atypia or necrosis may occur in atypical cellular blue nevus, making it difficult to differentiate it from melanoma. The growth of blue nevus is unusual and considered of high-risk for malignancy, being an indicator for complete resection and periodic follow-up of these patients.
Topics: Child; Diagnosis, Differential; Humans; Male; Nevus, Blue; Skin Neoplasms
PubMed: 28225968
DOI: 10.1590/abd1806-4841.20174502 -
ACG Case Reports Journal Oct 2022Blue rubber bleb nevus syndrome is a rare congenital sporadic disorder characterized by multiple venous malformations localized in the skin, gastrointestinal tract, and...
Blue rubber bleb nevus syndrome is a rare congenital sporadic disorder characterized by multiple venous malformations localized in the skin, gastrointestinal tract, and internal organs. Gastrointestinal lesions tend to lead to massive or occult bleeding and iron deficiency anemia. The treatment of symptomatic gastrointestinal venous malformations remains a challenge, especially in the setting of recurrent blood loss anemia. An endoscopic approach may be required for refractory cases. We present a case of a 20-year-old patient with blue rubber bleb nevus syndrome with multiple lesions in the stomach, duodenal bulb, small bowel, sigmoid, and descending colon who underwent successful endoscopic mucosal resection, hybrid endoscopic submucosal dissection, and surgical transmural resection of vascular lesions for recurrent bleeding.
PubMed: 36277742
DOI: 10.14309/crj.0000000000000890 -
The American Journal of Dermatopathology Nov 2020Cutaneous melanomas may demonstrate a variety of histopathological features and genetic abnormalities. Melanomas that arise in the setting of blue nevi, also known as... (Review)
Review
Cutaneous melanomas may demonstrate a variety of histopathological features and genetic abnormalities. Melanomas that arise in the setting of blue nevi, also known as "malignant blue nevus" or melanoma ex blue nevus (MBN), share a similar histopathological and mutational profile with uveal melanoma. Most uveal melanomas show characteristic GNA11 or GNAQ mutations; additional BAP1 mutation or loss is associated with the highest risk of metastasis and worst prognosis. However, the significance of BAP1 loss in melanomas ex blue nevus remains unclear. We present a case of MBN arising from the scalp of a 21-year-old woman. The diagnosis was established on histopathological findings demonstrating a markedly atypical melanocytic proliferation with increased mitotic activity, necrosis, and a focus of angiolymphatic invasion. Immunohistochemical analysis demonstrated the absence of BAP1 nuclear expression within tumor cells. Next generation sequencing detected GNA11 Q209L mutation and BAP1 loss (chromosome 3p region loss), supporting the diagnosis. We reviewed another 21 MBN cases with reported BAP1 status from the literature. MBN with BAP1 loss presented at a younger average age (41 vs. 61 years), demonstrated larger average lesion thickness (9.0 vs. 7.3 mm), and had a higher rate of metastasis (50% vs. 33%) compared with BAP1-retained MBN. BAP1 expression studies may assist in the diagnosis and management of MBN, but further research is needed.
Topics: Female; GTP-Binding Protein alpha Subunits; Humans; Melanoma; Nevus, Blue; Scalp; Skin Neoplasms; Tumor Suppressor Proteins; Ubiquitin Thiolesterase; Young Adult
PubMed: 32310862
DOI: 10.1097/DAD.0000000000001652 -
World Journal of Gastroenterology Dec 2014Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by multiple venous malformations and hemangiomas in the skin and visceral organs. The lesions... (Review)
Review
Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by multiple venous malformations and hemangiomas in the skin and visceral organs. The lesions often involve the cutaneous and gastrointestinal systems. Other organs can also be involved, such as the central nervous system, liver, and muscles. The most common symptoms are gastrointestinal bleeding and secondary iron deficiency anemia. The syndrome may also present with severe complications such as rupture, intestinal torsion, and intussusception, and can even cause death. Cutaneous malformations are usually asymptomatic and do not require treatment. The treatment of gastrointestinal lesions is determined by the extent of intestinal involvement and severity of the disease. Most patients respond to supportive therapy, such as iron supplementation and blood transfusion. For more significant hemorrhages or severe complications, surgical resection, endoscopic sclerosis, and laser photocoagulation have been proposed. Here we present a case of BRBNS in a 45-year-old woman involving 16 sites including the scalp, eyelid, orbit, lip, tongue, face, back, upper and lower limbs, buttocks, root of neck, clavicle area, superior mediastinum, glottis, esophagus, colon, and anus, with secondary severe anemia. In addition, we summarize the epidemiology, clinical manifestations, diagnosis, differential diagnosis and therapies of this disease by analyzing all previously reported cases to enhance the awareness of this syndrome.
Topics: Anemia, Iron-Deficiency; Blood Transfusion; Diagnosis, Differential; Endoscopy, Gastrointestinal; Female; Gastrointestinal Hemorrhage; Gastrointestinal Neoplasms; Hematinics; Humans; Iron; Middle Aged; Nevus, Blue; Predictive Value of Tests; Prognosis; Skin Neoplasms; Tomography, X-Ray Computed
PubMed: 25493043
DOI: 10.3748/wjg.v20.i45.17254 -
The Journal of Investigative Dermatology Jan 2017Soblet et al. describe cis mutations in TEK/Tie-2 in blue rubber bleb nevus and sporadic vascular malformations. This suggests that the remaining normal allele is... (Comparative Study)
Comparative Study Review
Soblet et al. describe cis mutations in TEK/Tie-2 in blue rubber bleb nevus and sporadic vascular malformations. This suggests that the remaining normal allele is required for the phenotype. Second, it suggests therapeutic approaches to treatment signal transduction inhibition.
Topics: Adult; Alleles; Gastrointestinal Neoplasms; Hemangioma, Capillary; Humans; Infant; Microtubule Proteins; Mutation; Nevus, Blue; Phenotype; Sensitivity and Specificity; Skin Neoplasms; Suppressor of Cytokine Signaling Proteins
PubMed: 28010758
DOI: 10.1016/j.jid.2016.08.011