Multiple Nevi Research Articles

Genetic analysis for a female carrying idic(Y)(p11.32) with Disorders of sex development

To explore the genetic basis for a patient with Disorders of sex development (DSD). A female patient who had presented at the Linyi People's Hospital due to primary amenorrhea on April 6, 2022 was selected as the study subject. Conventional chromosomal karyotyping, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), fluorescence quantitative PCR and Sanger sequencing were carried out for the patient. The patient, a 14-year-old female, had featured short statue, multiple nevi, and primary amenorrhea. She was found to have a karyotype of 46,X,idic(Y)(p11.3)[59]/45,X[39]/47,X,idic(Y)(p11.3)×2[2]. The result of FISH assay was 46,X,der(Y).ish idic(Y)(p11.3)(SRY+)[59]/45,X[39]/47,X,der(Y)×2.ish idic(Y)(p11.3)(SRY+)[2]. That of CMA was arr[GRCh37](X)×1,(Y)×0-1,arr[GRCh37]Yp11.32(118552_472090)×1. The patient had no deletion in the AZF region of Y chromosome, and was negative for variant of SRY gene. Combining the above results, her molecular karyotype was determined as mos 46,X,idic(Y)(p11.32)[59]/45,X[39]/47,X,idic(Y)(p11.32)×2[2].ish 46,X,idic(Y)(p11.32)(DXZ1+,DYZ1++,DYZ3++,SRY+)[59]/45,X(DXZ1+,DYZ1-,DYZ3-,SRY-)[39]/47,X,der(Y)×2.ish idic(Y)(p11.32)(DXZ1+,DYZ1++,DYZ3++,SRY+)[2].arr[GRCh37](X)×1, (Y)×0-1，arr[GRCh37]Yp11.32(118552_472090)×1. The patient was diagnosed with mosaicism DSD with idic(Y)(p11.32). The abnormal mosaicism karyotype probably underlay the DSD in this patient.

Multiple Nevus Lipomatosus Cutaneous Superficialis that Recurred Despite Several Excisions

Multiple Nevus Lipomatosus Cutaneous Superficialis that Recurred Despite Several Excisions

The “Lone Wolf” sign: An underutilised aid for the diagnosis of melanoma in patients lacking multiple nevi

The “Lone Wolf” sign: An underutilised aid for the diagnosis of melanoma in patients lacking multiple nevi

Teaching Neuro Images : Clinical and neuroimaging features in Gorlin-Goltz syndrome

An 18-year-old man presented with neuropsychomotor development delay since birth associated with multiple nevi and basal cell carcinomas (BCCs), which appeared in the third year of life (figure 1). Family history was unremarkable. Brain CT showed tentorium and falx cerebri calcification, associated with sphenoid hypoplasia (figure 2). Brain MRI disclosed a jaw odontogenic cyst (figure 2). Gorlin-Goltz syndrome (GGS) was diagnosed based on clinical and neuroimaging features.

Knowledge and Protective Behaviors of Teachers on Skin Cancer: A Cross-Sectional Survey Study from Turkey.

People socialize and receive education and training for the first time outside the home at school, where their teachers act as role models. Teachers play a crucial role in instilling sun-protection habits in children. Avoiding the sun between 10 a.m. and 4 p.m., staying in the shade, wearing sun-protective clothing, wearing sunglasses, wearing hats, using sunscreen products, and using an umbrella are some of the sun-protection methods described in the literature. This study sought to assess teachers' skin cancer knowledge and attitudes (SC). In this cross-sectional study conducted between 21 September 2020, and 21 October 2020, 647 teachers from 30 schools in Kahramanmaras were included with their consent. The number of teachers employed at Kahramanmaras was 1863. Accordingly, the sample was found to be 641 with a 5% margin of error and a 99% confidence interval. Schools were selected by a simple random method. Teachers' knowledge and behaviors were assessed using a 25-point questionnaire designed by the literature data to gauge the level of SC knowledge. Of the 647 teachers included in this study, 230 (35.5%) were male, and 417 (64.5%) were female. The mean age of the participants was 38.44 ± 8.79 (min = 22, max = 65) years. The knowledge level of the teachers about SC was 13.54 ± 4.48 (min = 0, max = 23). The internet (75.9%) was the most preferred source of information. SC knowledge level was significantly higher in those with SC in their families and birthmarks on their bodies. (p < 0.001, p = 0.042, respectively). The rate of precaution taken to protect from the sun was higher in those with higher knowledge (p = 0.032). Women, primary school teachers, those with skin type 1, those with multiple nevi, and those with a high level of SC knowledge used statistically significantly more sunscreen (p = 0.001, p = 0.003, p < 0.001, p = 0.037, p = 0.002, respectively). It was found that the knowledge level of teachers about skin cancer and sun-protective behaviors was moderate. Correct behaviors increased as knowledge about SC grew. Information and recommendations made on the Internet should be made by experts. Additionally, health policymakers should implement projects aimed at improving teachers' knowledge and behaviors and, through them, teaching students about SC; as such projects would significantly contribute to both public health and health economics.

Indications for Digital Monitoring of Patients With Multiple Nevi: Recommendations from the International Dermoscopy Society.

In patients with multiple nevi, sequential imaging using total body skin photography (TBSP) coupled with digital dermoscopy (DD) documentation reduces unnecessary excisions and improves the early detection of melanoma. Correct patient selection is essential for optimizing the efficacy of this diagnostic approach. The purpose of the study was to identify, via expert consensus, the best indications for TBSP and DD follow-up. This study was performed on behalf of the International Dermoscopy Society (IDS). We attained consensus by using an e-Delphi methodology. The panel of participants included international experts in dermoscopy. In each Delphi round, experts were asked to select from a list of indications for TBSP and DD. Expert consensus was attained after 3 rounds of Delphi. Participants considered a total nevus count of 60 or more nevi or the presence of a CDKN2A mutation sufficient to refer the patient for digital monitoring. Patients with more than 40 nevi were only considered an indication in case of personal history of melanoma or red hair and/or a MC1R mutation or history of organ transplantation. Our recommendations support clinicians in choosing appropriate follow-up regimens for patients with multiple nevi and in applying the time-consuming procedure of sequential imaging more efficiently. Further studies and real-life data are needed to confirm the usefulness of this list of indications in clinical practice.

Further evidence supporting the role of DUT gene in diabetes with bone marrow failure syndrome.

In 2017, a homozygous DUT mutation was reported to cause a syndrome of diabetes and bone marrow failure. However, no further patient with this combination has been reported and the phenotype of heterozygous DUT mutation is unknown. We describe the genotype, phenotype, and post bone marrow transplantation (BMT) data of two unrelated families with this rare syndrome. Whole-exome and/or direct sequencing of the DUT gene were performed in all family members. Each family has two children presented within the first 10 years of life with thrombocytopenia, macrocytosis, with or without anemia, followed by non-autoimmune diabetes. The same homozygous missense DUT mutation, reported in 2017 (c.425A>G p.(Tyr142Cys), was detected in all affected children. The heterozygous carriers have no BM failure, one developed type 2 diabetes, and the rest have normal fasting glucose, insulin, HbA1c, and c-peptide. Multiple nevi were detected in homozygous and heterozygous mutation carriers. Allogenic BMT normalized BM aplasia without impact on diabetes. Post BMT follow-up revealed normal puberty and school performance; but three have height <2.5 SDS. We add two families with this syndrome supporting a role of DUT in bone marrow and β-cell function. The heterozygous carriers of this DUT mutation appear to be healthy.

Atypical genotype in a typical phenotype

Introduction: Usually, onset of thelarche heralds puberty. Delayed puberty is worrisome and needs medical attention. Our patient in her late adolescence presented with primary amenorrhea, whose evaluation left us surprised. Case report: An eighteen-year-old scholastically backward girl, presented with complaints of not attaining menarche. Physical examination included a height of 156 cm(10th-25thcentile),weight 51 kg(50th centile), wide carrying angle, multiple nevi and a broad chest, however no other Turner stigmata was noted. Her sexual maturity rating (SMR) was A2P2B1 Laboratory investigations revealed increased gonadotropins (FSH:77mIU/ml; LH:25.4mIU/ml), low estradiol (14 pg/ml) and vitamin-D deficiency (21ng/ml). Ultrasonography of abdomen-pelvis showed small infantile uterus with streak ovaries. Karyotype (50 metaphases) demonstrated mosaicism [47,XXX (29)/45,X(19)/46,XX(2)]. Hormone replacement therapy and vitamin D replacement was initiated. Conclusion: 30-40% of the Turner syndrome are mosaics, the most common being 45,X/46,XX. Mosaicism is the presence of 2 or more cell lines with different chromosomal constitutions. The cell lines are derived due mostly to postzygotic mitotic nondisjunction. X/XX/XXX can present with or without classical turner stigmata. Trisomy X has a spectrum of presentation from normal menses and fertility to recurrent abortions and primary/secondary amenorrhea (primary ovarian insufficiency). Varied clinical phenotype due to three cell lines in a Turner mosaic makes this case unique.

See Spots? Look Deeper!

See Spots? Look Deeper!

Giant Obstructive Myxoma with Hemolytic Anemia and Multiple Nevi in a 10-Year-Old Girl

Myxomas are low-prevalence heart tumors in the pediatric population. They are located in the left atrium in 75-86% of cases, and 30-50% are accompanied by general symptoms such as fever, weight loss, myalgias, arthralgias and elevated inflammatory markers caused by IL-6 release. They are rapidly growing heart tumors, and their most important complications are valvular and ventricular inflow tract obstruction, which may cause sudden death. Three to ten percent of cases are associated with Carney complex (CNC), type 1, caused by a mutation of the PRKAR1A gene on chromosome 17.

Atypical genotype in a typical phenotype

Introduction: Usually, onset of thelarche heralds puberty. Delayed puberty is worrisome and needs medical attention. Our patient in her late adolescence presented with primary amenorrhea, whose evaluation left us surprised. Case report: An eighteen-year-old scholastically backward girl, presented with complaints of not attaining menarche. Physical examination included a height of 156 cm(10th-25thcentile),weight 51 kg(50th centile), wide carrying angle, multiple nevi and a broad chest, however no other Turner stigmata was noted. Her sexual maturity rating (SMR) was A2P2B1 Laboratory investigations revealed increased gonadotropins (FSH:77mIU/ml; LH:25.4mIU/ml), low estradiol (14 pg/ml) and vitamin-D deficiency (21ng/ml). Ultrasonography of abdomen-pelvis showed small infantile uterus with streak ovaries. Karyotype (50 metaphases) demonstrated mosaicism [47,XXX (29)/45,X(19)/46,XX(2)]. Hormone replacement therapy and vitamin D replacement was initiated. Conclusion: 30-40% of the Turner syndrome are mosaics, the most common being 45,X/46,XX. Mosaicism is the presence of 2 or more cell lines with different chromosomal constitutions. The cell lines are derived due mostly to postzygotic mitotic nondisjunction. X/XX/XXX can present with or without classical turner stigmata. Trisomy X has a spectrum of presentation from normal menses and fertility to recurrent abortions and primary/secondary amenorrhea (primary ovarian insufficiency). Varied clinical phenotype due to three cell lines in a Turner mosaic makes this case unique.

Contribution of family history of melanoma to associated risk factors: Analysis of an Internet-based risk assessment tool.

10546 Background: Risk factors for melanoma (ML) include UV exposure, sunburns, multiple nevi, and fair skin. Smoking and alcohol use may also play a role. Demographics associated with increased UV exposure include male gender, white race, age 18-29, and high-income. Those with family history (FH) of ML have increased risk of developing ML themselves yet are often unaware or do not engage in preventive behaviors. We sought to understand the association between FH of ML and other personal risk factors for cancer. Methods: Since 2009, voluntary participants could receive personalized information regarding their cancer risk via the OncoLink.org Reduce My Risk tool. Survey data was collected on demographics, FH, risk-factors, and risk-associated behaviors. Use of data was IRB approved. Differences between respondents with v. without FH of ML were analyzed using chi-square test and adjusted via logistic regression. Results: 25255 responses were analyzed; 1928 (7.6%) had FH of ML. Of these, median age was 26 (range 18-75), 73.1% were female, 88.6% from North America, 91.4% White, 78.2% had at least some college, and 62.0% household income &gt; $45,000. Comparing those with FH of ML to those without, no significant differences were observed in education, income, or home setting. Those with a FH of ML were less likely to be “light” smokers ( &lt; 1 pack per day) but were more likely to be both “light” drinkers and “heavy” drinkers (Table). There were no significant differences in BMI or exercise habits. Those with FH of ML were more likely to sunbathe, to have had “blistering” sunburns, have 50+ moles, show signs of sun damage on their skin, and have dysplastic nevi (Table). There were no differences in use of indoor tanning beds (Table). Conclusions: Those with a FH of ML were more likely to sunbathe and to report skin damage and history of blistering sunburns; they were more likely to use tanning beds, though not statistically significant. These behaviors are modifiable and may suggest parental influence on sun-protective behaviors. Those with FH also reported increased non-modifiable risks. Future work should continue to explore targeted intervention for those with a FH of ML to educate on risk and promote sun-protective behaviors.[Table: see text]

Karyotype-Phenotype Correlation in Turner Syndrome at a Single Center in Eastern India

To describe clinical features in Indian girls with Turner syndrome along with the phenotype-karyotype correlation. 103 girls with Turner syndrome were divided into karyotype-groups: Classic (45X), 45,X/46,XX mosaics, isochromosomeXq (46,X,iXq and 45,X/46,X,iXq mosaics), 45,X/46,XYmosaics and structural defects, and analyzed for phenotypic differences. Majority (44.1%) had classic karyotype followed by isochromosome-Xq (26.5%). Classic Turner syndrome had higher prevalence of most skeletal and cutaneous stigmata, cubitus valgus (68.3%) and multiple nevi (68.2%) being the commonest. Bicuspid aortic valve was most common in 45,X/46,XX mosaics (5/15, 33.3%), and aortic coarctation in classic TS (3/42, 7.2%). Congenital renal anomalies occurred mostly in classic TS (6/42,14.3%). Overt hypothyroidism, conductive deafness and recurrent otitis media were commonest in isochromosomes (P<0.03). 45,X/46,XY mosaics had highest IQ (P<0.005). We report some novel associations of karyotype with non-endocrine parameters in Turner syndrome. In resource-limited settings, underlying karyotype may help prioritize screening investigations in girls with Turner syndrome.

The importance of total-body photography and sequential digital dermatoscopy for monitoring patients at increased melanoma risk.

SummaryBackground and objectivesThe incidence of melanoma is rising and prevention plays an important role. Multiple nevi as well as a medical history of melanoma are important risk factors. In affected patients, a two‐step algorithm consisting of total‐body photography (TBP) and sequential digital dermatoscopy (SDD) is a helpful diagnostic tool.Patients and methodsThis was a retrospective observational study that lasted six years in order to evaluate the significance of the two‐step algorithm. Cases were evaluated based on distinct dermoscopic patterns and statistical analyses were performed with the latest version of SPSS.Results6020 dermoscopic images of 214 patients were included. TBP was performed at a mean interval of 16.9 months (SD ± 1.43 months), while SDD was performed every 9.9 months (SD ± 1.68 months). The number needed to excise was 4.6 and the number needed to monitor was 548. Excisions were mostly performed because dynamic changes were observed. A total of eleven melanomas were detected and had a mean tumor thickness of 0.44 mm (SD ± 0.15 mm; range 0.2–0.6 mm).ConclusionsInvasive melanomas had a tumor thickness of less than 0.6 mm, thus providing evidence of an effective strategy for early melanoma detection. Excisions of benign nevi were minimized as indicated by a low number needed to excise.

Omphaloliths: a case series and review of 29 cases in literature

Omphaloliths are uncommon benign umbilical lesions caused by the accumulation of sebum and keratin into a stone-like concretion. Recognition of this entity can prevent unnecessary procedures and imaging studies for uncomplicated cases. We present three cases of omphaloliths from our department and review all 26 cases previously reported in the English literature with regard to modes of presentation, potential risk factors, complications, and treatment options to guide clinicians. The mean age at presentation was 48 years. Of the 29 cases, 17 (59%) were asymptomatic. Male patients presented at a younger age and were more likely to present with complications compared to females who presented at an older age with asymptomatic lesions (P=0.006). Features of patients described included dementia, hirsutism, a deep or narrow umbilicus, multiple nevi, obesity, and poor hygiene. Two patients developed overlying pyogenic granulomas. Removal of asymptomatic lesions was uncomplicated and done using forceps or following irrigation, with no recurrence. Complications, including localized abscesses and peritonitis, were associated in 41% of patients who were treated surgically; recurrence was noted in one patient. Removal of omphaloliths is recommended, once identified, to reduce risks of complications and patients should be encouraged to improve their personal hygiene.

Neurocutaneous melanosis with pulmonary metastasis: looking beyond the skin

Neurocutaneous melanosis are neuroectodermal disorders characterized by giant congenital melanocytic nevus or multiple (≥3) nevus’s associated with melanocytic leptomeningeal tumour. Central nervous system tumour can be benign or malignant and usually presents at an early age. The neurological manifestation includes raised intracranial pressure, seizures and spinal cord compression. The dissemination of malignant nevomelanocytes to the peritoneal cavity has been observed with ventriculoperitoneal shunt placement in neurocutaneous melanosis. We report an infant of neurocutaneous melanosis with primary central nervous system melanoma and its metastasis to the lung in view of rarity.

Diagnostic Accuracy of Reflectance Confocal Microscopy for Diagnosis of Skin Lesions: An Update.

Histopathology is the current standard to diagnose skin disease. However, biopsy may not always be feasible, such as in patients with multiple nevi, a patient with a lesion on an aesthetically significant site, or in children. Recently, noninvasive techniques, including reflectance confocal microscopy (RCM), optical coherence tomography, and Raman spectroscopy, have enabled dermatologists to manage skin lesions in real time without the need for biopsy. To report the updated diagnostic accuracy of RCM for equivocal skin lesions. In this study, we retrospectively reviewed our data of clinically suspicious lesions from 2010 to 2017 that were evaluated by RCM. Our results showed an overall sensitivity of 98.2% and specificity of 99.8%. In conclusion, RCM is a noninvasive real-time tool with the potential to diagnose skin lesions with high accuracy and without biopsy.

Sequential digital dermatoscopic imaging of patients with multiple atypical nevi.

Patients with multiple atypical nevi are at higher risk of developing melanoma. Among different techniques, sequential digital dermatoscopic imaging (SDDI) is a state-of-the art method to enhance diagnostic accuracy in evaluating pigmented skin lesions. It relies on analyzing digital dermatoscopic images of a lesion over time to find specific dynamic criteria inferring biologic behavior. SDDI can reduce the number of necessary excisions and finds melanomas in an early—and potentially curable—stage, but precautions in selecting patients and lesions have to be met to reach those goals.

Analysis of factors influencing treatment outcomes of halo nevus

Objective To investigate clinical characteristics of halo nevus, and to explore factors influencing its treatment outcome. Methods A prospective study was conducted in 250 patients with halo nevus from February 2016 to November 2016 to analyze the factors influencing treatment outcomes. Results There were a total of 293 lesions in the 250 patients, including 219 (87.6%) patients with solitary lesions and 31 (12.4%) with multiple lesions. Among these lesions, 154 (52.6%) occurred on the trunk, and 127 (43.3%) occurred on the face and neck. The diameters of the lesions ranged from 5 mm to 20 mm. Not all the halo nevi spontaneously subsided in 248 (99.2%) of the 250 patients, and 122 (48.8%) of the patients were complicated by vitiligo. Univariate logistic regression analysis showed that age, number of lesions, complication by vitiligo and therapeutic methods were factors influencing the treatment outcome of halo nevus. Multivariate logistic regression analysis revealed that age ≤ 19 years or ≥ 40 years, disease duration > 1 year, solitary lesions, absence of vitiligo and nevus removal were independent factors for effective treatment of halo nevus. Conclusions Most of halo nevi cannot subside spontaneously. CO2 laser or surgical excision combined with externally applied agents is effective for the treatment of halo nevus. For halo nevus patients without vitiligo, it′s preferred to remove the halo nevi. For halo nevus patients with vitiligo, nevi should be removed in the stable stage of vitiligo. Relapse often occurs in patients with multiple halo nevi or large-area vitiligo, so close follow-up is needed. Key words: Vitiligo; Treatment outcome; Nevus; Root cause analysis; Halo nevus

The smartphone: an effective tool in transitioning patients from mole mapping to mole excision

We describe a useful strategy to accurately identify the correct 'atypical' nevus for excision in patients with multiple nevi. We believe this is an effective strategy and eliminates risk of any incorrect procedures being performed, and have used this technique on over 50 patients to date. As the patient stores the images on their own phone, there is no breach of data protection. We find patients prefer this method as opposed to giving others permission to store their sensitive information.