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Dermatopathology (Basel, Switzerland) Oct 2021Our knowledge in vascular anomalies has grown tremendously in the past decade with the identification of key molecular pathways and genetic mutations that drive the... (Review)
Review
Our knowledge in vascular anomalies has grown tremendously in the past decade with the identification of key molecular pathways and genetic mutations that drive the development of vascular tumors and vascular malformations. This has led us to better understand the pathogenesis of vascular lesions, refine their diagnosis and update their classification while also exploring the opportunity for a targeted molecular treatment. This paper aims to provide an overview of venous malformations (VM) in childhood. Specific entities include common VMs, cutaneo-mucosal VM, blue rubber bleb nevus syndrome or Bean syndrome, glomuvenous malformation, cerebral cavernous malformation, familial intraosseous vascular malformation and verrucous venous malformation. The clinicopathological features and the molecular basis of each entity are reviewed.
PubMed: 34698142
DOI: 10.3390/dermatopathology8040050 -
Modern Pathology : An Official Journal... Nov 2014Melanomas arising in association with blue nevi or mimicking cellular blue nevi comprise a relatively rare and heterogeneous group of melanomas. It remains controversial... (Review)
Review
Melanomas arising in association with blue nevi or mimicking cellular blue nevi comprise a relatively rare and heterogeneous group of melanomas. It remains controversial which prognostic indicators predictive of outcome in conventional cutaneous melanomas are applicable to this type of melanoma. Here, we describe the clinical and histopathologic features of 24 melanomas arising in association with blue nevi and correlate these with clinical outcome. The mean patient age was 49 years (range: 23-85) with a slight female predominance (15 females:9 males). The most common anatomic locations included the head and neck region (50%), the trunk (21%), and the buttock/sacrococcygeum (17%). Histologically, the tumors were typically situated in the mid to deep dermis with variable involvement of the subcutis, but uniformly lacked a prominent intraepithelial component. The mean tumor thickness (defined as either the standard Breslow thickness or, if not available due to the lack of orientation or lack of epidermis, the largest tumor dimension) was 20.9 mm (range: 0.6-130 mm). The mean mitotic figure count was 6.5/mm(2) (range: 1-30/mm(2)). Perineural invasion was common (38%). Follow-up was available for 21 cases (median 2.1 years). The median overall survival, recurrence-free survival, time to local recurrence, and time to distant recurrence were 5.2, 0.7, 2.6, and 1.6 years, respectively. Logistic regression analyses demonstrated a significant association between tumor thickness and recurrence-free survival (hazard ratio=1.02 per mm; P=0.04) and reduced time to distant metastasis (hazard ratio=1.03 per mm; P=0.02) with a similar trend toward reduced time to local recurrence (hazard ratio=1.02 per mm; P=0.07). No other parameters (age, anatomic location, mitotic figures, lymphovascular or perineural invasion, or type of associated blue nevus) emerged as significant. In addition, we provide a comprehensive review of 109 cases of melanoma blue nevus type described in the English literature and summarize our findings in this context.
Topics: Adult; Aged; Aged, 80 and over; Biopsy; Disease-Free Survival; Female; Humans; Logistic Models; Male; Melanoma; Middle Aged; Mutation; Neoplasm Invasiveness; Neoplasm Recurrence, Local; Neurons; Nevus, Blue; Predictive Value of Tests; Proportional Hazards Models; Proto-Oncogene Proteins B-raf; Risk Factors; Skin Neoplasms; Time Factors; Tumor Burden; Young Adult
PubMed: 24743221
DOI: 10.1038/modpathol.2014.62 -
World Journal of Clinical Cases Nov 2022Blue rubber bleb nevus syndrome is a rare vascular malformation syndrome with unclear etiopathogenesis and noncurative treatments. It is characterized by multiple...
BACKGROUND
Blue rubber bleb nevus syndrome is a rare vascular malformation syndrome with unclear etiopathogenesis and noncurative treatments. It is characterized by multiple vascular malformations of the skin, gastrointestinal tract, and other visceral organs. The most common symptoms are intermittent gastrointestinal bleeding and secondary iron deficiency anemia, thus requiring repeated blood transfusions and hospitalizations. It is easily missed and misdiagnosed, and there is no specific treatment.
CASE SUMMARY
We report a case of blue rubber bleb nevus syndrome combined with disseminated intravascular coagulation and efficacy of treatment with argon plasma coagulation under enteroscopy and sirolimus. A 56-year-old female patient was admitted to the hospital with 3-year history of fatigue and dizziness that had aggravated over the past 10 d with melena. The patient had a history of repeated melena and multiple venous hemangiomas from childhood. After treatment with argon plasma coagulation combined with sirolimus for nearly 8 wk, the patient's serum hemoglobin increased to 100 g/L. At the 12-mo follow-up, the patient was well with stable hemoglobin (102 g/L) and no recurrent intestinal bleeding.
CONCLUSION
Argon plasma coagulation and sirolimus may be an efficacious and safe treatment for blue rubber bleb nevus syndrome, which currently has no recommended treatments.
PubMed: 36405278
DOI: 10.12998/wjcc.v10.i32.11929 -
Dermatology Practical & Conceptual Jul 2014The colors that are seen in dermoscopy depend on the anatomic level of the skin at which the chromophores are seen. Blue color can be found in a variety of melanocytic...
The colors that are seen in dermoscopy depend on the anatomic level of the skin at which the chromophores are seen. Blue color can be found in a variety of melanocytic and nonmelanocytic lesions. An 89-year-old man presented with a 3-year history of a slow-growing, hyperpigmented patch located on the distal third of the right arm. Dermoscopy showed an atypical network, irregularly distributed globules, pigmented internal streaks and a milky-red area. Based on these findings a diagnosis of slow-growing malignant melanoma was made. Simultaneously, a well-defined blue papule was seen on the proximal third of the same arm. Dermoscopy disclosed a homogeneous blue pattern. After clinical and dermoscopic correlation our differential diagnosis for this blue lesion included cutaneous melanoma metastasis, blue nevus and foreign body reaction. The patient recalled its onset 75 years ago after a grenade explosion. We also discuss the blue lesion appearance under reflectance confocal microscopy and high-definition optical coherence tomography. Histopathological examination after excision of the hyperpigmented patch and blue papule revealed a melanoma in situ and a foreign body reaction, respectively. The diagnostic evaluation of a blue lesion should always rely on the integration of all data, especially clinical and dermoscopic features. Other non-invasive techniques, like reflectance confocal microscopy and high-definition optical coherence tomography can also be important aids for its differential diagnosis.
PubMed: 25126462
DOI: 10.5826/dpc.0403a12 -
Translational Pediatrics Nov 2021Blue rubber bleb nevus syndrome is a rare congenital disease characterized by multiple venous malformations in skin and gastrointestinal tract, not all patients have...
BACKGROUND
Blue rubber bleb nevus syndrome is a rare congenital disease characterized by multiple venous malformations in skin and gastrointestinal tract, not all patients have typical cutaneous lesions, refractory anemia may be the only clinical symptom, it is easy to miss diagnosis.
METHODS
A retrospective single center study was conducted on 8 patients with blue rubber bleb nevus syndrome from 2009 to 2021. Data were analyzed including clinical feature, diagnostic workup and results, gene detection, treatment and follow-up.
RESULTS
Five children (62.5%) developed the disease in infancy, which initial symptoms were all cutaneous venous malformations. All children had chronic refractory anemia and gastrointestinal bleeding. Cutaneous lesions were observed in 87.5%, 1 child had multiorgan involvement. Gastrointestinal venous malformations were observed in 100%, lesions were more common in small intestine than in stomach or colon. No somatic mutation in was found in our children. Diagnostic interval was on average 4.7 years. Eighty-seven-point-five percent children received at least one endoscopic or surgical intervention, however, those methods could not eradicate all the lesions and prevent relapse. Two children treated with sirolimus for more than 8 years, only 1 have satisfactory therapeutic effect. Besides, I child has growth retardation and emotional problems during follow-up.
CONCLUSIONS
Blue rubber bleb nevus syndrome needs to be considered when find bluish nodular cutaneous lesions, chronic anemia or gastrointestinal bleeding of unknown origin. Capsule endoscopy is the most sensitive in diagnosing of this disease. Oral sirolimus at a relatively low dosage is effective, further comprehensively studies are required to evaluation of its efficacy, safety and the optimal dosage about the children.
PubMed: 34976762
DOI: 10.21037/tp-21-238 -
The American Journal of Surgical... Aug 2022Pigmented epithelioid melanocytoma is a rare cutaneous melanocytic proliferation considered high-grade melanocytoma in the 2018 WHO Classification of Skin Tumors. Little...
Attempting to Solve the Pigmented Epithelioid Melanocytoma (PEM) Conundrum: PRKAR1A Inactivation Can Occur in Different Genetic Backgrounds (Common, Blue, and Spitz Subgroups) With Variation in Their Clinicopathologic Characteristics.
Pigmented epithelioid melanocytoma is a rare cutaneous melanocytic proliferation considered high-grade melanocytoma in the 2018 WHO Classification of Skin Tumors. Little has been reported about the associated genetic drivers in addition to BRAF and MAP2K1 mutations or PRKCA gene fusions. Here, we present a series of 21 cases of PRKAR1A -inactivated melanocytic tumors in which we could assess the associated genetic background. We identified 9 different driver genes related to the common, Spitz, blue nevi, and PRKC -fused groups. Nine cases were associated with a canonical BRAF p.V600E mutation, a hallmark of the common nevus group. They occurred mainly in young adults. All were combined (biphenotypic) cases with a variable proportion of compound nevus. The pigmented epithelioid melanocytoma component was made of thin fascicules or isolated epithelioid cells covered by a dense hyperpigmented melanophage background and was predominantly located in the upper dermis. One such case was malignant. Six cases were associated with Spitz-related genetic anomalies ranging from HRAS or MAP2K1 mutations to gene fusions involving MAP3K8 , MAP3K3 , and RET . They occurred mainly in children and young adults. Morphologically, they showed large confluent junctional nests in a hyperplastic epidermis and a fascicular dermal component of spindled and epithelioid melanocytes with a frequent wedged silhouette. Intravascular invasion was observed in 4/6 cases. Five cases were associated with canonical mutations of the blue nevus group with 4 CYSLTR2 p.L129Q and 1 GNAQ p.Q209L mutations. They were removed mainly in adults and showed a frequent junctional component with epidermal hyperplasia. The dermal component showed dense fascicules of spindled and epithelioid melanocytes predominating over melanophages. One case occurred in a PRKCA -fused tumor in an adolescent with classic morphologic features. These results could potentially shift the concept of PRKAR1A -inactivated melanocytoma, changing from a rather unified model to a more complex one, including genetic subgroup variations with clinical and morphologic specificities. The genetic background of PRKAR1A -inactivated melanocytic tumors should be systematically explored to better understand the extent and clinical behavior of these complex lesions.
Topics: Adolescent; Child; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; Genetic Background; Humans; Nevus; Nevus, Blue; Nevus, Epithelioid and Spindle Cell; Proto-Oncogene Proteins B-raf; Skin Neoplasms; Young Adult
PubMed: 35319526
DOI: 10.1097/PAS.0000000000001888 -
Skin Appendage Disorders Sep 2020Blue nevus of the nail apparatus is a rare entity and only isolated cases are reported in the literature.
BACKGROUND
Blue nevus of the nail apparatus is a rare entity and only isolated cases are reported in the literature.
OBJECTIVE
The aim of this study was to better characterize blue nevus at the nail unit.
METHODS
Retrospective analysis of all nail unit blue nevi from the Nail Group of the French Society of Dermatology was compared to the literature.
RESULTS
Eleven cases were retrieved from 2002 to 2019 with an average age of 45 years. The majority were women (9/11) and acquired (10/11). Hands were more frequently involved (9/11) with a predilection for the thumb and 2 cases were located on the hallux. Nail unit blue nevus mostly presented as a well-delimited blue spot of the lunula (9/11) and histologically was of the common type (10/11). There was no malignancy.
CONCLUSION
Nail unit blue nevus is a rare asymptomatic benign entity, mostly acquired on the thumb or the hallux of women. The most frequent presentation is a painless blue spot on the lunula. Congenital blue nevi seem to only affect the paronychium. Main differential diagnosis is melanoma and histopathological examination is mandatory.
PubMed: 33088814
DOI: 10.1159/000509204 -
Cureus Jun 2022A 48-year-old Mongolian man developed bilateral leg edema after suffering from a fever for three months. He lost his appetite, and the edema gradually spread from the...
A 48-year-old Mongolian man developed bilateral leg edema after suffering from a fever for three months. He lost his appetite, and the edema gradually spread from the legs, becoming systemic. In addition, he had difficulty in moving. He had a history of being diagnosed with numerous venous malformations and Kasabach-Merritt syndrome when he was a child. On arrival, he had numerous venous malformations over pale skin, edema at each extremity, and anemic conjunctiva. Chest roentgen showed bilateral pleural effusion, and cardiac echography findings showed a left ventricular ejection fraction of 30% with diffuse hypokinesis. The results of a blood analysis showed coagulopathy, which was compatible with disseminated intravascular coagulation and pancytopenia. He was diagnosed with blue rubber bleb nevus syndrome with Kasabach-Merritt syndrome and heart failure. Use of diuretics, thiamine, iron, phytonadione, carbazochrome, and tranexamic acid, in addition to intermittent transfusion resulted in the improvement of his Kasabach-Merritt syndrome. Radical management of blue rubber bleb nevus syndrome was deemed impossible by dermatologists due to the large amount of venous malformations. We encountered an extremely rare case of blue rubber bleb nevus syndrome with Kasabach-Merritt and heart failure. Multimodal therapy might help manage Kasabach-Merritt syndrome following improvement in coagulopathy and pancytopenia.
PubMed: 35795526
DOI: 10.7759/cureus.25589 -
JPMA. the Journal of the Pakistan... Feb 2022Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder in which there is development of multiple venous malformations and haemangiomas in the skin and visceral...
Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder in which there is development of multiple venous malformations and haemangiomas in the skin and visceral organs. The lesions mostly involve the skin and gastrointestinal systems but other organs, including the liver, muscles, and the central nervous system, can also be involved. If untreated, affected individuals develop severe anaemia. Most cases are managed with iron supplementation and blood transfusions but some may require surgical resection, endoscopic sclerosis and laser photocoagulation. Here, we present a case of BRBNS in a four-year-old girl with multiple cutaneous lesions, melena and severe anaemia. Review of South Asian literature showed that only two cases (besides ours) have been reported from Pakistan and the rest were from India. This highlights the lack of awareness of BRBNS among physicians in Pakistan and the rest of South Asian countries.
Topics: Child; Child, Preschool; Female; Gastrointestinal Neoplasms; Humans; Nevus, Blue; Pakistan; Skin Neoplasms
PubMed: 35320191
DOI: 10.47391/JPMA.1309 -
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