Multiple Nevi Research Articles

Eruptive multiple Spitz nevi in a patient with epilepsy and drug addiction

Eruptive multiple Spitz nevi in a patient with epilepsy and drug addiction

Non-Hodgkin Lymphoma in a Patient With Cardiofaciocutaneous Syndrome

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by a distinctive facial appearance, ectodermal abnormalities, and heart defects. Clinically, it overlaps with both Noonan syndrome and Costello syndrome. Mutations in KRAS, BRAF, and MAP2K1/2 (MEK1/2) have been identified in patients with CFC syndrome. BRAF mutations are involved in more than 80% of CFC syndrome patients, and we have reported earlier that 2 CFC patients with BRAF mutations developed acute lymphoblastic leukemia. Here we report a boy with CFC syndrome who developed non-Hodgkin lymphoma. At 2 months of age, he developed pneumonia with pleurisy and was diagnosed as having non-Hodgkin lymphoma (precursor T-cell lymphoblastic lymphoma) by cytopathologic examination of the pleural fluid. He was suspected of having Noonan syndrome because of his facial appearance, webbed neck, and cubitus valgus. Precursor T-cell lymphoblastic lymphoma was treated by the TCCSG NHL 94-04 protocol. At 9 years of age, he was clinically reevaluated and diagnosed as having CFC syndrome because of his distinctive facial appearance, multiple nevi, and moderate mental retardation. Sequencing analysis showed a germline p.A246P (c.736G>C) mutation in BRAF reported earlier in CFC syndrome. Molecular diagnosis and careful observation should be considered in children with CFC syndrome.

Symmetrisch wachsende Pigmentläsion bei einem Jugendlichen

A 16-year-old boy with multiple nevi presented with an enlarging pigmented lesion on his right chest. Previously excised nevi were all benign. Dermoscopy of the symmetrical lesion revealed a trizonal globular-homogeneous pattern. A peripheral rim of brown globules was followed by a zone with homogeneous pigmentation. The centre of the lesion showed black dots and globules. Histopathology confirmed a dysplastic compound nevus and found no diagnostic aspects of pigmented spindle cell nevus (Reed).

Dermoscopy of Patients With Multiple Nevi

To assess the outcome on management recommendations of a comparative approach vs a morphologic approach in evaluating dermoscopic images of lesions from a series of patients with multiple nevi. In a 2-step study, 6 experienced dermoscopists were asked to provide management recommendations (excision or follow-up) for a series of lesions from patients with multiple nevi based on dermoscopic images of the lesions. In the first step, participating dermoscopists evaluated individual images of lesions based only on morphologic structure (morphologic approach). In the second step, the same lesions were grouped by patient, allowing the participants to evaluate the lesions in the context of other nevi from the same patient (comparative approach). Academic referral center. Seventeen patients with 190 lesions (184 monitored nevi, 4 excised nevi, and 2 excised melanomas). Using pooled data from each step, excision recommendation rates for the comparative approach and the morphologic approach were calculated. Using the morphologic approach, 55.1% of overall recommendations favored excision; using the comparative approach, the rate decreased to 14.1%. The 2 melanomas included in the study were correctly judged to merit excision by all participants in step 1 and in step 2. Conclusion Among patients with multiple nevi, evaluation of equivocal lesions in the context of a patient's other nevi results in a lower rate of excision recommendations compared with evaluation of individual lesions based on morphologic structure alone.

Multiple Nevus Sebaceous Occurring on the Scalp and on the Contralateral Side of the Face

Nevus sebaceous (NS) is a benign neoplasm occurring mainly on the face and scalp. It commonly occurs as a solitary, well-demarcated lesion. This paper presents a case of multiple nevus sebaceous, which presented as multiple lesions occurring on the temporal scalp and on the contralateral side of the chin. Multiple NS have only rarely been reported.

Blue rubber bleb nevus syndrome: imaging of small bowel lesions with peroral CT enterography

Blue rubber bleb nevus syndrome (BRBNS) is a rare entity that consists of multiple venous malformations involving several organ systems, particularly the skin and the gastrointestinal tract. The diagnosis is based on clinical findings; however, imaging is required to investigate the extent of involvement and complications. A 17-year-old patient, with multiple blue skin nevus, was admitted to the emergency room of our hospital with severe gastrointestinal bleeding and melena. Upper endoscopy showed two wine-color vascular lesions in the duodenum, and colonoscopy revealed multiple lesions in the colon. Peroral CT enterography demonstrated multiple (more than 30) contrast-enhanced polypoid small bowel lesions, ranging in size from 5 to 16 mm. Some lesions contained millimetric calcifications representing phleboliths. The patient also had three pancreatic lesions which showed homogenous enhancement on the delayed images. Our findings show that peroral CT enterography is useful to demonstrate the extent of small bowel lesions of BRBNS. This is the first report of pancreatic involvement of BRBNS.

P14 Epidemiological and clinical characterization of patients with multiple primary melanomas in a Greek cohort

Introduction Patients diagnosed with a primary cutaneous melanoma are in a higher risk to develop a subsequent melanoma, with an incidence rate that varies from 1.2 to 8.2%. Only a few studies have evaluated the incidence, risk factors and clinical parameters of patients with multiple primary melanomas (MPM) in Mediterranean populations. Aim To study the epidemiological and clinico-pathological characteristics of patients with multiple primary melanomas in a Greek hospital-based cohort. Methods We performed a retrospective study of the medical records of A. Sygros Hospital's Melanoma Unit from 1998 to 2009. Patients with either two or more biopsy-confirmed invasive melanomas or one melanoma in situ and one or more invasive melanomas were included in the study. A detailed questionnaire on risk factors, environmental exposures and family history of cancer was completed. Data on anatomical location, histologic subtype of the tumor and Breslow thickness was obtained for each patient from pathology reports. Results Twelve out of 434 consecutive patients with a primary cutaneous melanoma (2.8%) were subsequently diagnosed with a second primary melanoma. Two of these cases also had a family history of melanoma. Eleven patients had a total of 2 primary melanomas while one patient had three primary tumors. The mean Breslow thickness of the index tumor was 1.46 mm (range 0.52–3.4 mm) and of the 2nd primary tumor was 0.59 mm (0.16–0.95 mm). The mean age at diagnosis was 38 years (range 18–57 years). Seven patients (58%) had Fitzpatrick's skin phototype II. History of high cumulative sun exposure reflected by occupational sun exposure and the presence of actinic keratoses was reported in 3 (25%) and 2 (16%) patients respectively, while recreational exposure and increased sun exposure during childhood (>5 weeks/year) was reported in 8 patients (67%). Eleven patients had dysplastic nevi and 8 out of 11 (86%) had a prominent mole pattern (>50 common nevi). Conclusion The incidence of multiple primary melanomas in Greek patients appears to be lower than that reported in several studies of Northern European populations. Although our sample is small, our findings suggest that patients with multiple nevi or dysplastic nevi and a history of high intermittent exposure to UVR are at a higher risk of developing a secondary primary melanoma. Familial history was not a predominant feature in our MPM patients.

Pigmentnävi bei Kindern

Almost all fair-skinned children demonstrate one or more pigment nevi at the integument. These usually develop in the first two decades of life as a result of an endogenous disposition and exogenous stimulants. While most pigmented nevi are per se harmless, congenital and atypical (dysplastic) nevi are considered as precursors of melanoma and risk indicators. Although one normal nevus in isolation generally presents no risk, children and adults with multiple pigment nevi are at increased risk of developing a melanoma in the course of their life. Since the onset of pigment nevi is undisputedly triggered by ultraviolet light, appropriate prevention and protection is crucial. The differential diagnosis between nevus cell nevi and melanoma is particularly challenging, especially in the case of atypical nevi.

Index of Suspicion

Index of Suspicion

Sun and Solarium Exposure and Melanoma Risk: Effects of Age, Pigmentary Characteristics, and Nevi

Few prospective studies have analyzed solar and artificial (solarium) UV exposure and melanoma risk. We investigated these associations in a Norwegian-Swedish cohort study and addressed effect modification by age, pigmentary characteristics, and nevi. The cohort included women ages 30 to 50 years at enrollment from 1991 to 1992. Host factors and exposure to sun and solariums in life decades were collected by questionnaire at enrollment. Relative risks (RR) with 95% confidence intervals (CI) were estimated by Poisson regression. Among 106,366 women with complete follow-up through 2005, 412 melanoma cases were diagnosed. Hair color and large, asymmetric nevi on the legs were strongly associated with melanoma risk (P(trend) < 0.001), and the RR for > or =2 nevi increased from brown/black to blond/yellow to red-haired women (RRs, 1.72, 3.30, and 4.95, respectively; P(interaction) = 0.18). Melanoma risk increased significantly with the number of sunburns and bathing vacations in the first three age decades (P(trend) < or = 0.04) and solarium use at ages 30 to 39 and 40 to 49 years [RRs for solarium use > or =1 time/mo 1.49 (95% CI, 1.11-2.00) and 1.61 (95% CI 1.10-2.35), respectively; P(trend) < or = 0.02]. Risk of melanoma associated with sunburns, bathing vacations, and solarium use increased with accumulating exposure across additional decades of life. Melanoma risk seems to continue to increase with accumulating intermittent sun exposure and solarium use in early adulthood. Apparently, super-multiplicative joint effects of nevi and hair color identify people with red hair and multiple nevi as a very high risk group and suggest important gene-gene interactions involving MC1R in melanoma etiology.

Smoking, sun exposure, number of nevi and previous neoplasias are risk factors for melanoma in older patients (60 years and over)

Malignant melanoma risk factors have been studied in different geographical area populations. However, no study has focused on risk factors which are more frequently associated to the over 60's age group. A case-control study was performed that included 160 patients age > or = 60 years diagnosed of cutaneous melanoma and 318 controls matched for age and sex. Both groups were assessed, by personal interview and physical examination, for different phenotype characteristics (hair and eye color, phototype), the presence of other cutaneous lesions (solar lentigines, actinic keratoses and nevi), degree and type of solar exposure and personal and family past history of cutaneous or non-cutaneous cancer. Differences were evaluated by contingency tables and univariate and multivariate logistic regression. Of 17 factors, those risk factors with a strong effect on the development of melanoma in the elderly were: fair eyes, severe sunburns, years of occupational sun exposure, smoking, > 50 melanocytic nevi and personal history of NMSC and other non-cutaneous neoplasias. Tobacco smoking is an independent risk factor for cutaneous melanoma in the elderly. Intense (both acute and chronic) sun exposure and constitutional features, such as tumor susceptibility (NMSC, non-cutaneous neoplasias, and multiple nevi) are also associated with melanoma risk. All these factors should help to better design educational campaigns in older people.

47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development

To describe a patient with infertility and phenotypic combination of Turner and triple-X syndrome related to mos 47,XXX/45X/46,XX karyotype. Case report. División de Genética, Centro de Investigación Biomédica de Occidente and Hospital de Ginecología y Obstetricia, CMNO, Instituto Mexicano del Seguro Social. The 24-year-old patient presented a phenotypic combination of Turner syndrome and X polysomy. She showed wide and short neck, low posterior hairline, cubitus valgus, bilateral shortening of the fourth and fifth metacarpals, multiple nevi, and müllerian anomalies but had spontaneous pubarche, thelarche, and menarche. Laboratory evaluations, imaging studies, ovarian biopsy, G-banding karyotype, and in situ fluorescence hybridization. Clinical and laboratory findings. A karyotype: mos 47,XXX/45X/46,XX was found in the cytogenetic studies, a bicornuate uterus in the ultrasonographic scan, and a normal ovarian profile in the laboratory tests. The infertility in the present case can be related to either bicornuate uterus or subclinical abortions due to aneuploid ova. Cytogenetic assessment provides important information regarding infertile patients with uterine factors and short stature.

Multiple Sutton nevi: Hypomelanocytic halo development around 28 melanocytic nevi

Multiple Sutton nevi: Hypomelanocytic halo development around 28 melanocytic nevi

Dermatosis infantiles en la consulta de Dermatología de un hospital general universitario en España

Background and objectivesPediatric dermatology is a relatively new subspecialty for which few epidemiological studies are available. We aimed to determine the work load associated with this subspecialty and the most common presenting complaints among pediatric patients in the general dermatology clinic of our hospital. MethodsA descriptive study was performed based on hospital records to analyze patients aged 16 years or under seen in our department in 2005 and their diagnoses. ResultsPediatric dermatology accounts for 12.1 % of the work load in our department (1’329/10’998 patients were 16 ≤ years old). By disease groups, tumors and infections were the most common diagnoses and accounted for 55.4 % of all cases. A long way behind was eczema (15.0 %) and diseases affecting hair follicles, nails, and sweat and sebaceous glands (8.8 %). The most common individual diagnosis was melanocytic nevus (19.8 %), followed by viral warts (12.1 %), atopic dermatitis (8.9 %), molluscum contagiosum (8.4 %), and acne (7.0 %). ConclusionsIn most developed countries, atopic dermatitis is the most common dermatologic disease in children. In our study, however, melanocytic nevus was the most common presenting complaint, reflecting perhaps that there are more children in Spain with multiple nevi due to overexposure to sunlight or because of concern about melanoma among the population. Another possibility is that Spain has fewer cases of atopic dermatitis than more industrialized countries in northern Europe. Measures to avoid exposure to sunlight and use of sunscreen should be promoted during infancy. This could help slow the increase of melanoma in the adult population.

Agminated Spitz Nevi on a Hyperpigmented Macule

We present the case of a 2-year-old boy with multiple Spitz nevi clustered on a hyperpigmented macule that obeyed a quadrant distribution. Multiple Spitz nevi are rare and can be disseminated or clustered. A third of the cases of agminated lesions appear on hyperpigmented macules.

Childhood Dermatosis in a Dermatology Clinic of a General University Hospital in Spain

Background and objectives Pediatric dermatology is a relatively new subspecialty for which few epidemiological studies are available. We aimed to determine the work load associated with this subspecialty and the most common presenting complaints among pediatric patients in the general dermatology clinic of our hospital. Methods A descriptive study was performed based on hospital records to analyze patients aged 16 years or under seen in our department in 2005 and their diagnoses. Results Pediatric dermatology accounts for 12.1% of the work load in our department (1329/10 998 patients were ≤ 16 years old). By disease groups, tumors and infections were the most common diagnoses and accounted for 55.4% of all cases. A long way behind was eczema (15.0%) and diseases affecting hair follicles, nails, and sweat and sebaceous glands (8.8%). The most common individual diagnosis was melanocytic nevus (19.8%), followed by viral warts (12.1%), atopic dermatitis (8.9%), molluscum contagiosum (8.4%), and acne (7.0%). Conclusions In most developed countries, atopic dermatitis is the most common dermatologic disease in children. In our study, however, melanocytic nevus was the most common presenting complaint, reflecting perhaps that there are more children in Spain with multiple nevi due to overexposure to sunlight or because of concern about melanoma among the population. Another possibility is that Spain has fewer cases of atopic dermatitis than more industrialized countries in northern Europe. Measures to avoid exposure to sunlight and use of sunscreen should be promoted during infancy. This could help slow the increase of melanoma in the adult population.

Clinical Spectrum of Choroidal Nevi Based on Age at Presentation in 3422 Consecutive Eyes

To evaluate the clinical features of choroidal nevi based on patient age at presentation and to investigate features of the nevi that are predictive of patient symptoms. Observational case series. Three thousand four hundred twenty-two consecutive eyes of 3187 patients. Retrospective clinic-based study of clinical features at referral. Cox proportional hazards regressions were used for evaluation of factors predictive of patient symptoms. Nevus features as related to patient age group at diagnosis (young [< or =20 years], mid-adult [21-50 years], older adult [>50 years]) and factors predictive of patient symptoms secondary to the nevus. Of the 3422 eyes with choroidal nevus, 63 (2%) were in young patients, 795 (23%) in mid-adults, and 2564 (75%) in older adults. The following factors showed no substantial increase or decrease by age category (young, mid-adult, older adult) at presentation: symptoms (14%, 12%, 13%), mean nevus base (5.6, 4.7, 5.2 mm), intrinsic nevus pigmentation (89%, 74%, 77%), related subretinal fluid (SRF) (11%, 15%, 9%), overlying orange pigment (6%, 10%, 6%), retinal pigment epithelial hyperplasia (0%, 9%, 7%), and retinal pigment epithelial atrophy (2%, 13%, 10%). The following factors statistically increased with age category: multiple nevi per eye (2%, 8%, 10%) (P = 0.0001), mean nevus thickness (1.2, 1.5, 1.6 mm) (P<0.0001), and overlying drusen (11%, 40%, 58%) (P<0.0001). Using multivariate analysis of the entire group, factors predictive of any symptom included nonpigmented nevus (P<0.001), location < or = 3 mm to foveola (P = 0.001), subfoveolar fluid (P = 0.002), any SRF (P = 0.02), and subfoveolar nevus (P = 0.027). Choroidal nevi show similar clinical features regardless of age of presentation, with the exception of increasing number of nevi per eye, slightly increasing thickness, and increasing drusen in adults versus younger patients. Symptomatic nevi are more likely to be nonpigmented, beneath the foveola, and with subfoveolar fluid.

Screening for common dermatologic disorders amongst Israeli adolescents

Dermatologic disorders amongst adolescents tend to overlap with general adult dermatology, but specific data are scarce. This study was undertaken to assess the prevalence of common skin disorders in 17-year-old Israeli military conscripts. Military recruits who underwent medical examination over approximately 1 year were included. Dermatology specialists evaluated and classified those with suspected skin disorders into categories of suitability for military tasks. Data were computerized for analysis of prevalences. Risk ratios for each category were determined for men and women. Of the 94,806 adolescents, 36,511 (38.5%) women and 58,295 (61.5%) men, the most prevalent diagnoses were hyperhidrosis, multiple nevi, atopic dermatitis, keratinization disorders (mostly psoriasis), and contact dermatitis. The most prominent gender differences were in hyperhidrosis, contact dermatitis, and collagen diseases. Major dermatologic problems in adolescents are documented, and the findings may be useful for the military, employers, and general health services.

NEUROCUTANEOUS MELANOSIS ASSOCIATED WITH AUTOIMMUNE DIABETES MELLITUS

### Case report. A 12-year-old boy with multiple nevi presented with 6 months of polydipsia (>4 L/day), polyuria, and a 40-pound weight loss that progressed over weeks to intractable headache and vomiting. The patient subsequently developed ataxia, complex partial seizures, and encephalopathy. Medical history was significant for numerous (40 to 50) benign congenital nevi ranging in diameter from 1 to 10 cm. He did not have a previous diagnosis of neurocutaneous melanosis (NCM) or a history of CNS disease. The initial workup revealed hyperglycemia (random blood glucose of 400) and hemoglobin (Hgb) A1c 11.9%. Anti–glutamic acid decarboxylase (GAD) antibody was 2.1 U/mL (normal <0.1). There was diffuse leptomeningeal enhancement on MRI. Initial lumbar puncture revealed an opening pressure of 40 cm H2O, white blood cell count of 23, glucose 40, and protein 193. Cytology from the CSF demonstrated atypical melanocytes consistent …

Dermoscopy features of melanoma incognito: Indications for biopsy

To avoid missing melanoma, the current practice is to biopsy all suggestive skin lesions. Although most cases of melanoma exhibit clinical clues leading to the correct diagnosis, melanoma can mimic benign lesions. Dermoscopy has been shown to increase the diagnostic accuracy of clinically equivocal lesions, but little is known about its ability to detect melanoma in the context of lesions that appear clinically benign. We present 7 difficult-to-diagnose melanomas, in which additional clues provided by dermoscopy increased the index of suggestion and led us to perform a biopsy. Our cases highlight the following 7 management rules: 1) Dermoscopy should not be used only for suggestive skin lesions. 2) Biopsy lesions missing clinicodermoscopic correlation. 3) Biopsy lesions with unspecific pigment pattern. 4) Biopsy lesions with spitzoid features. 5) Biopsy lesions with extensive regression features. 6) In patients with multiple nevi, biopsy lesions changing after short-term follow-up. 7) Biopsy pink lesions with an atypical vascular pattern. The reported series of cases is small. Dermoscopy has not been rigorously compared with handheld magnification (as with a x7 loupe). Dermoscopy can increase the index of suggestion to perform biopsy in difficult-to-diagnose melanomas.