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Nicolas Macagno - One of the best experts on this subject based on the ideXlab platform.
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Giant Congenital Melanocytic Nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF
Pigment Cell and Melanoma Research, 2018Co-Authors: Heather Etchevers, Christian Rose, Birgit Kahle, Helmuth Vorbringer, Frederic Fina, Pauline Heux, Irina Berger, Benjamin Schwarz, Stéphane Zaffran, Nicolas MacagnoAbstract:Giant Congenital Melanocytic nevi may be symptomatically isolated, or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A 71-year old patient with a giant Congenital Melanocytic Nevus of the lower back, buttocks and thighs was asymptomatic except for unexpected hemorrhage during partial surgical excision years before. Blunt trauma at age 64 initiated recurrent, severe pain under the Nevus; multiple large epidermal cysts developed within it. Imaging and biopsy showed a large, non-pulsatile venous malformation intermingled with the deep Nevus. A low-abundance, heterozygous BRAF c.1799T>A (p.V600E) mutation was present in both the gluteal and occipital “satellite” nevi; additional mutations in NRAS, GNAQ, GNA11, HRAS and PIK3CA were undetectable. This is the first demonstration of an identical BRAF mutation in multiple Congenital nevi from the same individual, confirming genetic heterogeneity in giant nevi. This exceptional case indicates that constitutive activation of BRAF can be an underlying cause of unusual associations of giant nevi with vascular malformations, and that the latter may be included among the somatic RASopathies.
Christian Rose - One of the best experts on this subject based on the ideXlab platform.
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Giant Congenital Melanocytic Nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF
Pigment Cell and Melanoma Research, 2018Co-Authors: Heather Etchevers, Christian Rose, Birgit Kahle, Helmuth Vorbringer, Frederic Fina, Pauline Heux, Irina Berger, Benjamin Schwarz, Stéphane Zaffran, Nicolas MacagnoAbstract:Giant Congenital Melanocytic nevi may be symptomatically isolated, or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A 71-year old patient with a giant Congenital Melanocytic Nevus of the lower back, buttocks and thighs was asymptomatic except for unexpected hemorrhage during partial surgical excision years before. Blunt trauma at age 64 initiated recurrent, severe pain under the Nevus; multiple large epidermal cysts developed within it. Imaging and biopsy showed a large, non-pulsatile venous malformation intermingled with the deep Nevus. A low-abundance, heterozygous BRAF c.1799T>A (p.V600E) mutation was present in both the gluteal and occipital “satellite” nevi; additional mutations in NRAS, GNAQ, GNA11, HRAS and PIK3CA were undetectable. This is the first demonstration of an identical BRAF mutation in multiple Congenital nevi from the same individual, confirming genetic heterogeneity in giant nevi. This exceptional case indicates that constitutive activation of BRAF can be an underlying cause of unusual associations of giant nevi with vascular malformations, and that the latter may be included among the somatic RASopathies.
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a distinctive type of widespread Congenital Melanocytic Nevus with large nodules
Journal of The American Academy of Dermatology, 2003Co-Authors: Christian Rose, Steven Kaddu, Tarek Fouad Elsherif, Helmut KerlAbstract:We report an unusual case of Congenital Melanocytic Nevus presenting in a 19-year-old African woman as widespread papules and variably sized nodules and tumors affecting the entire body, including the palms, soles, and oral mucous membrane. Histopathologic examination of 3 representative skin lesions showed mainly dermal aggregations of round to oval, focally pigmented, monomorphous melanocytes, arranged in nodular and plexiform patterns. Scattered areas with spindle-shaped dendritic melanocytes surrounded by fibrosis were also noted in the center of the lesions. The clinical and histopathologic findings were similar to those in 2 other previously reported cases, except that in 1 of the earlier cases the skin nodules were composed of spindle-shaped cells, suggesting a type of blue Nevus. The findings in our case indicate a broader spectrum of morphologic features in this condition, with dermal aggregations of melanocytes showing Congenital features, representing a common histopathologic denominator. Based on this observation, we suggest the term "widespread Congenital dermal Nevus with large nodules" to be the most appropriate for this rare, but distinctive, type of Congenital Nevus.
Torello Lotti - One of the best experts on this subject based on the ideXlab platform.
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medium sized Congenital Melanocytic Nevus with suspected progression to melanoma during pregnancy what s the best for the patient
Open Access Macedonian Journal of Medical Sciences, 2018Co-Authors: Georgi Tchernev, Uwe Wollina, Gabriela Atanasova Dzhelyatova, Ilia Lozev, Torello LottiAbstract:BACKGROUND: Congenital Melanocytic nevi (CMN) are pigmented skin lesions usually present at birth. Rare varieties can develop and become clinically very large. Although they are benign nevoMelanocytic neoplasms, all CMN may be precursors of the melanoma, regardless of their size. Individual risk of malignant transformation of melanocyte is determined by simultaneous action of exogenous and endogenous factors. The major exogenous risk factor is ultraviolet radiation. Leading roles among the endogenous factors are attributed to skin phenotype, gene mutation, sex hormones and their significance.CASE REPORT: We present a case of a 27 – year - old pregnant female patient with a Congenital Melanocytic Nevus, which increased significantly in size, during her pregnancy. Estrogen levels increase during pregnancy and clinical evidence has suggested that melanocytes are estrogen - responsive. Nevi in a pregnant patient would exhibit increased expression of estrogen receptor I² (ERI²) and thus enhanced the potential to respond to altered estrogen levels.CONCLUSION: All pigmented skin lesions should be carefully observed during pregnancy by a dermatologist due to the increased risk of malignant transformation, associated with the endocrine dependence. All lesions with visible changes should be removed surgically with appropriative anaesthesia.
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Medium Sized Congenital Melanocytic Nevus with Suspected Progression to Melanoma during Pregnancy: What’s the Best for the Patient?
ID Design 2012 DOOEL Skopje, 2018Co-Authors: Georgi Tchernev, Uwe Wollina, Gabriela Atanasova Dzhelyatova, Ilia Lozev, Torello LottiAbstract:BACKGROUND: Congenital Melanocytic nevi (CMN) are pigmented skin lesions usually present at birth. Rare varieties can develop and become clinically very large. Although they are benign nevoMelanocytic neoplasms, all CMN may be precursors of the melanoma, regardless of their size. Individual risk of malignant transformation of melanocyte is determined by simultaneous action of exogenous and endogenous factors. The major exogenous risk factor is ultraviolet radiation. Leading roles among the endogenous factors are attributed to skin phenotype, gene mutation, sex hormones and their significance. CASE REPORT: We present a case of a 27 – year - old pregnant female patient with a Congenital Melanocytic Nevus, which increased significantly in size, during her pregnancy. Estrogen levels increase during pregnancy and clinical evidence has suggested that melanocytes are estrogen - responsive. Nevi in a pregnant patient would exhibit increased expression of estrogen receptor β (ERβ) and thus enhanced the potential to respond to altered estrogen levels. CONCLUSION: All pigmented skin lesions should be carefully observed during pregnancy by a dermatologist due to the increased risk of malignant transformation, associated with the endocrine dependence. All lesions with visible changes should be removed surgically with appropriative anaesthesia
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late onset achromatic melanoma arising in a giant Congenital Melanocytic Nevus
Open Access Macedonian Journal of Medical Sciences, 2017Co-Authors: Georgi Tchernev, Torello Lotti, James W Patterson, Ilko Bakardzhiev, Jacopo Lotti, Katlein Franca, Atanas Batashki, Uwe WollinaAbstract:A 61-year-old woman, with a lifelong history of a giant Congenital Melanocytic Nevus in the occipital region with secondary development of giant melanoma is presented. Surgical excision was performed, and the histopathological evaluation confirmed the diagnosis of Giant Malignant Melanoma (GMM) with a maximum tumour thickness of 16 mm. Nowadays, there is tremendous uncertainty regarding how giant Congenital Melanocytic nevi (GCMN) should be treated. The standard approach to patients with late onset giant Congenital Melanocytic nevi (GCMN is based on two main considerations: (1) obtain an acceptable cosmetic results with the purpose to decrease the psychosocial inconvenience to each patient, and (2) to attempt to minimise the risk of development of malignant transformation. Unfortunately complete surgical removal of the GCMN is usually difficult and very often impossible without subsequent functional or cosmetic mutilations.
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medium sized Congenital Melanocytic Nevus of the forehead glabella and temple surgical treatment and long term follow up
Journal of Biological Regulators and Homeostatic Agents, 2016Co-Authors: A Goldman, Anastasiya Atanasova Chokoeva, Uwe Wollina, Georgi Tchernev, Torello LottiAbstract:Congenital Melanocytic nevi can be stigmatising for the patient. Larger nevi bear an increased risk for melanoma development. Large Congenital Melanocytic nevi may be a symptom of neurocutaneous melanosis. We report on a 5-year-old boy with an extensive hair-bearing facial Congenital Melanocytic Nevus, covering forehead, glabella and temple region associated with unilateral brow and blepharoptosis. The lesion was excised en bloc. The resulting defect had been closed by full thickness skin graft. Healing was unremarkable and long-term follow-up over 13 years demonstrated a satisfying esthetic and functional outcome. There was no evidence of melanoma development. Surgery is an option for disfiguring larger Congenital Melanocytic nevi as long as esthetics and function can be preserved. Long-term follow-up is recommended due to the increased risk of melanoma.
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Giant Congenital Melanocytic Nevus in a bulgarian newborn.
Journal of biological regulators and homeostatic agents, 2016Co-Authors: Anastasiya Atanasova Chokoeva, Massimo Fioranelli, Maria Grazia Roccia, Torello Lotti, Uwe Wollina, Georgi TchernevAbstract:Giant Congenital Melanocytic Nevus (GCMN) is a rare disorder affecting 1 in 200,000500,000 live births. Central nervous system defects such as spina bifida, meningocele, Dandy Walker malformation may accompany it and thus cause significant morbidity. Despite the related risk for malignant transformation, GCMNs may be associated with neurocutaneous melanosis, a rare syndrome in which a giant CMN or multiple smaller CMNs are accompanied by Melanocytic deposition in the brain and the spinal cord. We present a case of a 5-day-old newborn with giant Congenital Melanocytic Nevus on his back, as we discuss the diagnostic and treatment approach.
Georgi Tchernev - One of the best experts on this subject based on the ideXlab platform.
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medium sized Congenital Melanocytic Nevus with suspected progression to melanoma during pregnancy what s the best for the patient
Open Access Macedonian Journal of Medical Sciences, 2018Co-Authors: Georgi Tchernev, Uwe Wollina, Gabriela Atanasova Dzhelyatova, Ilia Lozev, Torello LottiAbstract:BACKGROUND: Congenital Melanocytic nevi (CMN) are pigmented skin lesions usually present at birth. Rare varieties can develop and become clinically very large. Although they are benign nevoMelanocytic neoplasms, all CMN may be precursors of the melanoma, regardless of their size. Individual risk of malignant transformation of melanocyte is determined by simultaneous action of exogenous and endogenous factors. The major exogenous risk factor is ultraviolet radiation. Leading roles among the endogenous factors are attributed to skin phenotype, gene mutation, sex hormones and their significance.CASE REPORT: We present a case of a 27 – year - old pregnant female patient with a Congenital Melanocytic Nevus, which increased significantly in size, during her pregnancy. Estrogen levels increase during pregnancy and clinical evidence has suggested that melanocytes are estrogen - responsive. Nevi in a pregnant patient would exhibit increased expression of estrogen receptor I² (ERI²) and thus enhanced the potential to respond to altered estrogen levels.CONCLUSION: All pigmented skin lesions should be carefully observed during pregnancy by a dermatologist due to the increased risk of malignant transformation, associated with the endocrine dependence. All lesions with visible changes should be removed surgically with appropriative anaesthesia.
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Medium Sized Congenital Melanocytic Nevus with Suspected Progression to Melanoma during Pregnancy: What’s the Best for the Patient?
ID Design 2012 DOOEL Skopje, 2018Co-Authors: Georgi Tchernev, Uwe Wollina, Gabriela Atanasova Dzhelyatova, Ilia Lozev, Torello LottiAbstract:BACKGROUND: Congenital Melanocytic nevi (CMN) are pigmented skin lesions usually present at birth. Rare varieties can develop and become clinically very large. Although they are benign nevoMelanocytic neoplasms, all CMN may be precursors of the melanoma, regardless of their size. Individual risk of malignant transformation of melanocyte is determined by simultaneous action of exogenous and endogenous factors. The major exogenous risk factor is ultraviolet radiation. Leading roles among the endogenous factors are attributed to skin phenotype, gene mutation, sex hormones and their significance. CASE REPORT: We present a case of a 27 – year - old pregnant female patient with a Congenital Melanocytic Nevus, which increased significantly in size, during her pregnancy. Estrogen levels increase during pregnancy and clinical evidence has suggested that melanocytes are estrogen - responsive. Nevi in a pregnant patient would exhibit increased expression of estrogen receptor β (ERβ) and thus enhanced the potential to respond to altered estrogen levels. CONCLUSION: All pigmented skin lesions should be carefully observed during pregnancy by a dermatologist due to the increased risk of malignant transformation, associated with the endocrine dependence. All lesions with visible changes should be removed surgically with appropriative anaesthesia
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late onset achromatic melanoma arising in a giant Congenital Melanocytic Nevus
Open Access Macedonian Journal of Medical Sciences, 2017Co-Authors: Georgi Tchernev, Torello Lotti, James W Patterson, Ilko Bakardzhiev, Jacopo Lotti, Katlein Franca, Atanas Batashki, Uwe WollinaAbstract:A 61-year-old woman, with a lifelong history of a giant Congenital Melanocytic Nevus in the occipital region with secondary development of giant melanoma is presented. Surgical excision was performed, and the histopathological evaluation confirmed the diagnosis of Giant Malignant Melanoma (GMM) with a maximum tumour thickness of 16 mm. Nowadays, there is tremendous uncertainty regarding how giant Congenital Melanocytic nevi (GCMN) should be treated. The standard approach to patients with late onset giant Congenital Melanocytic nevi (GCMN is based on two main considerations: (1) obtain an acceptable cosmetic results with the purpose to decrease the psychosocial inconvenience to each patient, and (2) to attempt to minimise the risk of development of malignant transformation. Unfortunately complete surgical removal of the GCMN is usually difficult and very often impossible without subsequent functional or cosmetic mutilations.
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medium sized Congenital Melanocytic Nevus of the forehead glabella and temple surgical treatment and long term follow up
Journal of Biological Regulators and Homeostatic Agents, 2016Co-Authors: A Goldman, Anastasiya Atanasova Chokoeva, Uwe Wollina, Georgi Tchernev, Torello LottiAbstract:Congenital Melanocytic nevi can be stigmatising for the patient. Larger nevi bear an increased risk for melanoma development. Large Congenital Melanocytic nevi may be a symptom of neurocutaneous melanosis. We report on a 5-year-old boy with an extensive hair-bearing facial Congenital Melanocytic Nevus, covering forehead, glabella and temple region associated with unilateral brow and blepharoptosis. The lesion was excised en bloc. The resulting defect had been closed by full thickness skin graft. Healing was unremarkable and long-term follow-up over 13 years demonstrated a satisfying esthetic and functional outcome. There was no evidence of melanoma development. Surgery is an option for disfiguring larger Congenital Melanocytic nevi as long as esthetics and function can be preserved. Long-term follow-up is recommended due to the increased risk of melanoma.
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Giant Congenital Melanocytic Nevus in a bulgarian newborn.
Journal of biological regulators and homeostatic agents, 2016Co-Authors: Anastasiya Atanasova Chokoeva, Massimo Fioranelli, Maria Grazia Roccia, Torello Lotti, Uwe Wollina, Georgi TchernevAbstract:Giant Congenital Melanocytic Nevus (GCMN) is a rare disorder affecting 1 in 200,000500,000 live births. Central nervous system defects such as spina bifida, meningocele, Dandy Walker malformation may accompany it and thus cause significant morbidity. Despite the related risk for malignant transformation, GCMNs may be associated with neurocutaneous melanosis, a rare syndrome in which a giant CMN or multiple smaller CMNs are accompanied by Melanocytic deposition in the brain and the spinal cord. We present a case of a 5-day-old newborn with giant Congenital Melanocytic Nevus on his back, as we discuss the diagnostic and treatment approach.
Heather Etchevers - One of the best experts on this subject based on the ideXlab platform.
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Giant Congenital Melanocytic Nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF
Pigment Cell and Melanoma Research, 2018Co-Authors: Heather Etchevers, Christian Rose, Birgit Kahle, Helmuth Vorbringer, Frederic Fina, Pauline Heux, Irina Berger, Benjamin Schwarz, Stéphane Zaffran, Nicolas MacagnoAbstract:Giant Congenital Melanocytic nevi may be symptomatically isolated, or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A 71-year old patient with a giant Congenital Melanocytic Nevus of the lower back, buttocks and thighs was asymptomatic except for unexpected hemorrhage during partial surgical excision years before. Blunt trauma at age 64 initiated recurrent, severe pain under the Nevus; multiple large epidermal cysts developed within it. Imaging and biopsy showed a large, non-pulsatile venous malformation intermingled with the deep Nevus. A low-abundance, heterozygous BRAF c.1799T>A (p.V600E) mutation was present in both the gluteal and occipital “satellite” nevi; additional mutations in NRAS, GNAQ, GNA11, HRAS and PIK3CA were undetectable. This is the first demonstration of an identical BRAF mutation in multiple Congenital nevi from the same individual, confirming genetic heterogeneity in giant nevi. This exceptional case indicates that constitutive activation of BRAF can be an underlying cause of unusual associations of giant nevi with vascular malformations, and that the latter may be included among the somatic RASopathies.