acquired melanocytic nevi

获得性黑素细胞痣
  • 文章类型: Journal Article
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  • 文章类型: Journal Article
    由种系PTPN11突变引起的LEOPARD综合征(OMIM#151,100)的特征是多系统异常和可变的标记表型,例如多个lentyines和cafe'-au-lait斑点,心电图传导异常,眼高血压/梗阻性心肌病,肺动脉狭窄,异常生殖器,生长迟缓,和耳聋。表型重叠使RASopathies中的临床歧视复杂化,使LEOPARD的诊断更加混乱和具有挑战性。此外,LEOPARD患者通常不会出现所有这些典型的临床特征,增加了漏诊或误诊的可能性。在这里,我们报告了1例LEOPARD综合征患者,该患者仅表现为色素性皮肤斑点,最初被诊断为多发性获得性黑素细胞痣。随后的病理检查证实诊断为多发性雀斑而不是黑素细胞痣。一项基因研究显示了种系PTPN11(Tyr279Cys)突变,并引起了对LEOPARD综合征的怀疑。随后的ECG检查发现了潜在的心脏缺陷,并确认了LEOPARD的诊断。我们认为,不应忽视皮肤多种雀斑下面的其他系统的潜在损害。LEOPARD综合征在心脏损害达到严重和不可逆阶段之前的早期诊断可以使患者充分了解潜在的风险。并发症和疾病的预后,并采取适当的预防措施,以防止心脏损害的潜在风险。
    LEOPARD syndrome (OMIM #151,100) caused by a germline PTPN11 mutation are characterized as multisystemic anomalies and variable marked phenotypes such as multiple lentigines and cafe´-au-lait spots, electrocardiographic conduction abnormalities, ocular hypertelorism/obstructive cardiomyopathy, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness. Phenotype overlap complicates clinical discrimination within RASopathies, making the diagnosis of LEOPARD more confusing and challenging. Besides, LEOPARD patients do not usually present with all these typical clinical features, increasing the possibility of underdiagnosis or misdiagnosis.Herein, we report a case of LEOPARD syndrome in a patient who only presented with pigmented skin spots and was initially diagnosed with multiple acquired melanocytic nevi. Subsequent pathological examination confirmed the diagnosis of multiple lentigines rather than melanocytic nevi. A genetic study showed a germline PTPN11 (Tyr279Cys) mutation and raised the suspicion of LEOPARD syndrome. A subsequent ECG examination detected potential cardiac defects and confirmed the diagnosis of LEOPARD. We considered that the potential damage of other systems underlying the skin multiple lentigines should not be ignored. The diagnosis of LEOPARD syndrome in an early stage before cardiac damage has reached a serious and irreversible stage can be meaningful for patients to fully understand the potential risks, complications and prognosis of the disease and to take appropriate precautions to prevent the potential risk of cardiac damage.
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  • 文章类型: Comparative Study
    Dermoscopic characteristics of congenital melanocytic nevi (CMN) have been reported, however, dermoscopic variation during long-term follow-up and direct comparative analyses with acquired melanocytic nevi (AMN) are poorly documented. To assess dermoscopic changes of CMN (including lesions present at birth or appearing within the first two years of age) after a long-term period and evaluate possible dermoscopic differences with AMN arising during prepubertal age. We re-analysed clinical and dermoscopic features of CMN, investigated ten years earlier. New findings were compared with those previously recorded, as well as with those of AMN appearing before puberty in the same group of patients. In total, 493 lesions (86 CMN and 407 AMN) from 71 patients were examined. Except for a greater size (median area: 73.9 vs 22.8 mm2; p<0.001) and higher prevalence of hair (17.4% vs 4.7; p<0.001) in CMN, no significant difference was observed between the two cohorts, including global/local dermoscopic features (p>0.05). The follow-up of CMN revealed that dermoscopic pattern changed in only four lesions (4.7%) (from globular to globular-reticular or reticular) after ten years, though lesions with a globular architecture presented several \"local\" changes, namely an increase in circumscribed reticular areas (from 20.0% to 41.5%; p = 0.030), irregularly distributed globules (from 15.6% to 34.1%; p = 0.045), and large globules (from 46.7% to 68.3%; p = 0.043). The dermoscopic appearance of CMN is significantly stable during childhood and is similar to that of AMN arising before puberty, thus supporting a possible link between such types of nevi.
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  • 文章类型: Journal Article
    BACKGROUND: The size and number of acquired melanocytic nevi (AMN) and presence of dysplastic nevi are the leading risk factors that should be recognized in the development of malignant melanoma.
    OBJECTIVE: To evaluate AMN and risk factors in the development of AMN in all age groups admitted to a dermatology outpatient clinic.
    METHODS: Four hundred and twelve patients who were admitted to the dermatology outpatient clinic for any dermatological symptom and who accepted to participate in the study were randomly included in the study. For each case, background-family history and dermatological findings were recorded. All AMN observed in the patients were dermatoscopically examined.
    RESULTS: The presence of more than 50 nevi was significantly higher in males, in individuals who had a history of sunburn and smokers. The number of nevi that were 5 mm and below was found to be higher in individuals who regularly sunbathed their face/body, in individuals using sunscreen, in individuals who had a history of sunburn, smokers and alcohol users. The number of nevi that were above 5 mm was higher in smokers. The total dermatoscopy score between 4.75 and 5.45 was found to be higher in individuals who had more than 50 nevi, in individuals exposed to more than one chemical substance and in alcohol users.
    CONCLUSIONS: When determining the patient\'s risk factors, factors such as the patient\'s sunbathing habits and chemical substance exposure features should be taken into consideration besides the number and size of nevi.
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  • 文章类型: Journal Article
    Melanocytic nevi are a benign clonal proliferation of cells expressing the melanocytic phenotype, with heterogeneous clinical and molecular characteristics. In this review, we discuss the genetics of nevi by salient nevi subtypes: congenital melanocytic nevi, acquired melanocytic nevi, blue nevi, and Spitz nevi. While the molecular etiology of nevi has been less thoroughly studied than melanoma, it is clear that nevi and melanoma share common driver mutations. Acquired melanocytic nevi harbor oncogenic mutations in BRAF, which is the predominant oncogene associated with melanoma. Congenital melanocytic nevi and blue nevi frequently harbor NRAS mutations and GNAQ mutations, respectively, while Spitz and atypical Spitz tumors often exhibit HRAS and kinase rearrangements. These initial \'driver\' mutations are thought to trigger the establishment of benign nevi. After this initial phase of the cell proliferation, a senescence program is executed, causing termination of nevi growth. Only upon the emergence of additional tumorigenic alterations, which may provide an escape from oncogene-induced senescence, can malignant progression occur. Here, we review the current literature on the pathobiology and genetics of nevi in the hope that additional studies of nevi promise to inform our understanding of the transition from benign neoplasm to malignancy.
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  • 文章类型: Comparative Study
    BACKGROUND: The identification of \"normal\" dermoscopic patterns of acquired melanocytic nevi provides better diagnostic accuracy for melanoma in people with black skin.
    OBJECTIVE: We sought to describe melanocytic lesions (numbers and anatomic distributions) in skin types V and VI compared with skin types I and II, according to the Fitzpatrick classification. We sought to identify differences in dermoscopic findings in acquired melanocytic nevi (global pattern, pigment and color distribution) between the groups.
    METHODS: We conducted cross-sectional, prospective, and consecutive data collection in 2 dermatologic outpatient clinics, between October 8, 2010, and March 20, 2013. From the 501 volunteers, 480 participants fulfilled the eligibility criteria. A total of 460 acquired melanocytic nevi were selected for dermoscopic analysis.
    RESULTS: Individuals with skin type V/VI had fewer melanocytic lesions than those with skin type I/II (15.08 vs 7.90; P = .032), and the anatomic distribution in the first group was predominantly on the face and acral sites (P < .001). The acquired melanocytic nevi in the skin type V/VI group were associated with the reticular pattern (P < .0001), with a tendency toward central hyperpigmentation (P = .0025).
    CONCLUSIONS: The choice of a single representative nevus per patient is a limitation.
    CONCLUSIONS: Acquired melanocytic nevi in individuals with skin type V/VI have a distinct dermoscopic pattern from those with skin type I/II.
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