Dysplastic Nevus Syndrome

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Article initiated by:
Hashem Abu Serhan
All contributors:
Dalaa Khaled Abuelshih, Rishika Geda (BMSc, MSc.), Sarah Khalid Emgaib, Ayman G Elnahry, Hashem Abu Serhan
Assigned editor:
Review:
Assigned status Update Pending
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Dysplastic nevus syndrome (DNS), including familial atypical multiple mole melanoma (FAMMM) syndrome, is characterized by multiple atypical nevi and an increased risk of cutaneous and, potentially, ocular melanoma. Clinically, diagnosis relies on ABCDE criteria, thorough history including family melanoma risk, full skin and ophthalmic examination, and histopathologic confirmation of suspicious lesions. Risk factors overlap between cutaneous and ocular melanomas, including fair skin, light eye color, UV exposure, and certain genetic mutations, although the precise causal link remains unclear. Management focuses on surveillance, early detection, patient education, and risk reduction, with no established pharmacologic therapy; surgical intervention is reserved for lesions that threaten vision or show malignant transformation. Follow-up is risk-adapted, using imaging modalities such as OCT, ultrasound, and fundus autofluorescence for ocular lesions, and aims to detect recurrence, monitor vision, and manage complications, including malignant transformation and secondary glaucoma. Prognosis depends on lesion location, size, histopathology, and genetic factors, and global incidence varies with ethnicity and pigmentation traits. Further research is needed to clarify the relationship between DNS and ocular melanoma, as well as worldwide epidemiologic patterns.

Disease Entity

Dysplastic nevus syndrome refers to a condition characterized by the presence of multiple atypical melanocytic nevi, which may be acquired sporadically or inherited as part of Familial Atypical Multiple Mole–Melanoma (FAMMM) syndrome. FAMMM is an autosomal dominant disorder defined by numerous dysplastic nevi in association with a family history of cutaneous melanoma. Dysplastic nevi exhibit clinical and histopathological features that distinguish them from common melanocytic nevi.[1] Clinically, they are often larger than 5 mm in diameter and demonstrate irregular borders, asymmetry, and variegated pigmentation. Histologically, they show architectural disorder and cytologic atypia. Owing to their atypical appearance and their association with an increased lifetime risk of melanoma—including ocular melanoma—these lesions frequently prompt biopsy for diagnostic evaluation. Nevertheless, dysplastic nevi themselves are generally benign lesions.[2]

Disease

Ocular melanoma is a rare malignancy arising from melanocytes within the eye and is most commonly referred to as uveal melanoma. The uvea, the eye’s middle vascular layer, comprises the iris, ciliary body, and choroid, which together represent the primary sites of tumor origin. Melanoma may also rarely arise from extra-uveal structures such as the conjunctiva. Despite its rarity, uveal melanoma remains the most common primary intraocular malignancy in adults, with an incidence of approximately 5 cases per million individuals annually. [3]

Since the formal recognition of dysplastic nevus syndrome in the 1970s, its relationship to melanoma has been a subject of ongoing debate, particularly regarding whether dysplastic nevi represent true precursor lesions or merely markers of increased melanoma risk. In the 1980s, early ophthalmic case reports and small series proposed a potential association between dysplastic nevus syndrome and intraocular or conjunctival melanoma; however, supporting evidence was limited. From the late 1990s through 2025, advances in genetic characterization and contemporary reviews of cutaneous and ocular melanocytic lesions have provided a more refined understanding of this relationship. [4] These developments have led to clinical recommendations emphasizing heightened surveillance and consideration of ophthalmic evaluation in patients with dysplastic nevus syndrome, reflecting shared genetic and phenotypic risk factors.

Etiology

Although multiple studies have reported the coexistence of dysplastic nevus syndrome/FAMMM and ocular melanoma, the underlying genetic predisposition for uveal and cutaneous melanoma appears to be largely distinct.[5] Moreover, environmental risk factors differ between these malignancies. Ultraviolet (UV) radiation, a well-established etiologic factor in cutaneous melanoma, plays a comparatively limited role in the development of ocular melanoma.[6] Consequently, while an association between dysplastic nevus syndrome and ocular melanoma has been observed, the biological mechanisms explaining their concurrence remain incompletely understood. Current evidence suggests that dysplastic nevi may serve as markers of increased melanoma susceptibility rather than direct precursors, and the precise etiopathogenic link between these conditions has yet to be clearly established.

Risk Factors

The presence of overlapping and shared risk factors between dysplastic nevi and ocular melanoma supports a potential association between these conditions. These include familial inheritance patterns and genetic susceptibility, although the specific gene mutations implicated in cutaneous dysplastic nevi and ocular melanoma are largely distinct. Environmental influences, particularly excessive ultraviolet (UV) radiation exposure, play a more prominent role in dysplastic nevus syndrome (DNS), while contributing to a lesser extent to ocular melanoma. [7]

Phenotypic characteristics such as fair skin, freckling, and light-colored eyes and hair are associated with an increased risk of developing both dysplastic nevi and ocular melanoma. Nevertheless, ocular melanoma can also occur in individuals with darker skin pigmentation, and darker skin is not protective against the disease, although it is associated with a reduced prevalence of dysplastic nevi.[8][9]

Collectively, these shared genetic, environmental, and phenotypic risk factors underscore a clinically relevant relationship between dysplastic nevus syndrome/FAMMM and ocular melanoma, supporting the recognition of certain inherited melanocytic conditions as important risk factors for the development of ocular melanoma.

General Pathology

Ocular melanoma and dysplastic nevi represent melanocytic proliferations with distinct but occasionally overlapping pathological features.[10] In ocular melanoma, tumor cells arise from uveal melanocytes and demonstrate characteristic histopathological patterns, including spindle cells, epithelioid cells, or a mixed cellular morphology. Spindle cell–predominant tumors are generally associated with a more favorable prognosis, whereas epithelioid cell morphology correlates with aggressive behavior and poorer outcomes. Dysplastic nevi, in contrast, are characterized by architectural disorder and cytologic atypia, including irregular nesting of melanocytes at the dermoepidermal junction, lentiginous proliferation with bridging of rete ridges, and extension into the superficial dermis. The associated stromal response typically includes papillary dermal fibrosis, lymphocytic infiltration, and variable pigmentation. While dysplastic nevi are benign lesions, their pathological features reflect abnormal melanocytic growth and increased melanoma susceptibility.[11]

Pathophysiology

The pathophysiology of ocular melanoma is primarily driven by early activating mutations in GNAQ and GNA11, which initiate oncogenic signaling pathways that promote melanocytic proliferation.[12] Tumor progression and metastatic potential are strongly influenced by secondary genetic alterations, particularly loss of tumor suppressor genes such as BAP1[13], resulting in genomic instability and aggressive tumor behavior, including a predilection for hepatic metastasis.[14] In contrast, dysplastic nevus syndrome/FAMMM is most commonly associated with germline mutations in CDKN2A, leading to dysregulation of cell-cycle control and enhanced melanocyte survival. Environmental factors, particularly ultraviolet radiation, further contribute to melanocytic DNA damage in the skin, potentiating abnormal proliferation.[15] Although the molecular drivers of ocular melanoma and dysplastic nevi differ, both conditions share convergent biological mechanisms involving disrupted cell-cycle regulation, impaired DNA repair, and progressive accumulation of somatic mutations, which together increase the risk of malignant transformation.[16]

Primary Prevention

For individuals with a strong family history of melanoma and multiple dysplastic nevi suggestive of FAMMM syndrome, genetic counseling is strongly recommended. This approach facilitates risk stratification, enables targeted surveillance, and supports preventive strategies for affected individuals and at-risk family members. Early dermatologic evaluation is essential for the timely identification and assessment of new or evolving pigmented skin lesions, thereby improving early detection of potentially malignant changes.

Regular ophthalmologic examinations should also be considered, particularly in high-risk individuals, as ocular melanoma may remain asymptomatic in its early stages. Prompt evaluation is warranted if visual changes or ocular symptoms arise. In addition, minimizing UV radiation exposure remains a cornerstone of primary prevention, particularly for cutaneous manifestations. Preventive measures include avoiding excessive sun exposure, reducing the risk of sunburn—especially during childhood and adolescence—and the consistent use of broad-spectrum sunscreen with regular reapplication every 2–3 hours.[17] Collectively, these strategies play a critical role in reducing melanoma risk and promoting early detection.

Diagnosis

The diagnosis of dysplastic nevus syndrome (DNS) is primarily clinical, relying on recognition of atypical melanocytic lesions using the ABCDE criteria. A thorough history—including personal and family history of melanoma, phenotypic risk factors, and environmental exposures—is essential, alongside a complete skin and ophthalmologic examination. Suspicious cutaneous lesions are confirmed by histopathology, while ocular lesions are evaluated using dilated fundus examination and ancillary imaging. Early identification and monitoring of high-risk lesions enable timely intervention and risk stratification for both cutaneous and ocular melanoma.

History

The diagnosis of dysplastic nevus syndrome (DNS) is primarily clinical and remains challenging due to the difficulty in distinguishing benign dysplastic nevi from early malignant melanoma, particularly when lesions arise in the setting of numerous common melanocytic nevi. A comprehensive medical history is therefore essential.

Key historical elements include the age of onset of multiple or atypical nevi, changes in size, shape, color, or number of existing lesions, and the development of new pigmented lesions over time. A history of prior melanoma or non-melanoma skin cancer significantly increases clinical suspicion. Particular attention should be given to symptoms suggestive of malignant transformation, such as rapid lesion growth, bleeding, ulceration, pruritus, or pain.[1]

A detailed family history is critical, with emphasis on first- and second-degree relatives affected by cutaneous or ocular melanoma, multiple atypical nevi, or known hereditary melanoma syndromes such as Familial Atypical Multiple Mole–Melanoma (FAMMM) syndrome. This information is especially relevant in guiding the need for ophthalmologic evaluation, as individuals with a strong familial predisposition may carry an increased risk of ocular melanoma.[2]

Additional historical factors include cumulative and intermittent ultraviolet (UV) exposure, history of blistering sunburns—particularly during childhood or adolescence—use of tanning beds, skin phototype, and phenotypic characteristics such as fair skin, light hair, and light-colored eyes.[18] Prior genetic testing, dermatologic surveillance, and ophthalmologic assessments should also be documented, as they inform both risk stratification and ongoing management.

Physical Examination

A thorough clinical evaluation is essential for the diagnosis and risk assessment of dysplastic nevus syndrome (DNS) and its potential association with ocular melanoma.

Signs

Dermatologic Examination[17]:

A complete skin examination should be performed, with particular attention to all pigmented lesions. The ABCDE criteria (Asymmetry, Border irregularity, Color variation, Diameter >5 mm, and Evolution or change over time) should be systematically applied to identify atypical nevi and lesions suspicious for malignant transformation. Documentation of lesion distribution, size, and morphological features is recommended, and dermoscopy may be employed to enhance diagnostic accuracy.

Ophthalmologic Examination[19]:

A comprehensive eye evaluation is recommended, especially in individuals with a strong family history of melanoma or multiple dysplastic nevi. This should include:

  • Anterior segment assessment: Careful inspection of the iris and conjunctiva to identify abnormal or atypical nevi.
  • Posterior segment assessment: Dilated indirect ophthalmoscopy to detect choroidal nevi or other uveal lesions. Fundus photography and ancillary imaging, such as optical coherence tomography (OCT) or ultrasound biomicroscopy, may be considered for baseline documentation and longitudinal monitoring.

Regular and systematic physical examination, combining dermatologic and ophthalmologic assessment, is critical for early detection of malignant transformation and timely intervention in high-risk individuals.

Early recognition of ocular melanoma is facilitated by the mnemonic “To Find Small Ocular Melanoma Using Helpful Hints Daily”, which highlights key clinical and imaging features associated with increased risk of malignancy[16]:

  • T – Thickness: Tumor thickness greater than 2 mm.
  • F – Subretinal Fluid: Presence of fluid accumulation beneath the retina.
  • S – Symptoms: Visual disturbances, such as flashes, floaters, or blurred vision.
  • O – Orange Pigment: Lipofuscin deposits on the tumor surface.
  • M – Margin: Tumor margin located less than 3 mm from the optic disc.
  • UH – Ultrasonographic Hollowness: Low internal reflectivity on ultrasound imaging.
  • H – Halo Absence: Lack of surrounding depigmented halo.
  • D – Drusen Absence: Absence of drusen overlying the lesion.

This combination of clinical and imaging features aids ophthalmologists in differentiating small ocular melanomas from benign choroidal nevi and supports timely referral, monitoring, and management.

Symptoms

Transformation of a benign ocular nevus into melanoma may be accompanied by visual disturbances, which often prompt clinical evaluation. Common symptoms include:

  • Blurred vision: A gradual or sudden decrease in visual acuity.
  • Flashes of light (photopsia): Perceived as brief streaks or flashes, often due to retinal traction or tumor-related changes.
  • Floaters: Small, mobile specks or strands in the visual field caused by vitreous changes or pigment dispersion from the lesion.

Although early ocular melanoma may remain asymptomatic, the onset of these symptoms warrants prompt ophthalmologic assessment to enable early detection and management.

Clinical Diagnosis

Dysplastic nevus syndrome (DNS) is primarily diagnosed on clinical grounds, using the ABCDE criteria for melanoma detection—Asymmetry, Border irregularity, Color variation, Diameter greater than 5 mm, and Evolution over time. The presence of one or more ABCDE features in a nevus warrants clinical consideration of DNS and may prompt further evaluation, including dermoscopic assessment or biopsy.[20]

In the context of ocular evaluation, increased suspicion for malignant transformation is indicated when three or more established ocular risk factors are present—such as tumor thickness >2 mm, presence of subretinal fluid, orange pigment, margin <3 mm from the optic disc, ultrasonographic hollowness, absence of halo, or absence of drusen. Patients meeting these criteria are considered at high risk for melanoma development within five years, underscoring the importance of vigilant dermatologic and ophthalmologic surveillance.[16]

Diagnostic Procedures

Skin Biopsy:

Histopathological confirmation of dysplastic nevi is achieved through skin biopsy of atypical lesions. While the presence of dysplastic nevi increases melanoma risk, the majority of melanomas arise de novo rather than from preexisting atypical nevi. The primary goals of biopsy are to establish a definitive histologic diagnosis, rule out melanoma in clinically suspicious lesions, and, in cases of confirmed melanoma, determine the depth of invasion (Breslow thickness), which remains the strongest predictor of metastatic potential and patient survival. Suspicious lesions may be sampled via excisional, punch, or shave biopsy, depending on size, location, and clinical judgment.[20]

Histopathological Features:

Dysplastic nevi are characterized by four principal features[21]:

  1. Lentiginous melanocytic hyperplasia – proliferation of atypical melanocytes along the basal layer of the epidermis.
  2. Cytologic atypia – abnormal nuclear morphology of melanocytes, including variation in size, shape, and chromatin pattern.
  3. Lamellar and concentric fibroplasia – a stromal response often seen as concentric fibrosis around rete ridges and nests of melanocytes.
  4. Architectural disorder – irregular nesting, bridging of rete ridges, and asymmetry of the lesion.

In compound dysplastic nevi, lateral extension of the intraepidermal component beyond the dermal component, termed the “shoulder phenomenon,” is frequently observed. Recognition of these features is essential for distinguishing dysplastic nevi from early melanoma and for guiding appropriate clinical management.

Supportive Tests

In addition to histopathologic evaluation of atypical nevi, further diagnostic tests may be employed to assess lesion characteristics, monitor progression, and detect early malignancy. Dermoscopy is a non-invasive imaging tool that enhances visualization of pigment patterns and vascular structures, improving differentiation between benign dysplastic nevi and melanoma. For ocular evaluation, ophthalmic imaging is essential. This includes fundus photography, optical coherence tomography (OCT), and ultrasound biomicroscopy, which allow detailed assessment of choroidal and uveal lesions, tumor thickness, and associated subretinal fluid. Fluorescein angiography or indocyanine green angiography may be used selectively to evaluate tumor vascularity and detect early changes suggestive of malignant transformation.[19] In cases with strong family history or suspicion of FAMMM syndrome, genetic testing for germline mutations in genes such as CDKN2A or CDK4 can identify individuals at high risk and guide surveillance for both cutaneous and ocular melanomas.[21] Collectively, these tests provide a comprehensive approach to risk stratification, early detection, and clinical management.

Differential Diagnosis

The differential diagnosis for patients with dysplastic nevi or suspected ocular melanoma includes a spectrum of benign and malignant melanocytic lesions. Benign melanocytic nevi must be distinguished from dysplastic nevi based on clinical and histopathological features. Cutaneous malignant melanoma is an important consideration, particularly in lesions exhibiting asymmetry, irregular borders, color variegation, or evolution over time. In the ocular context, differentiation from ocular melanomas—including iris, conjunctival, or choroidal melanoma—is essential, as these lesions may present with subtle visual changes or remain asymptomatic in early stages.[1][2] Accurate identification of these entities relies on a combination of careful history, thorough clinical examination, histopathology, and appropriate imaging studies.

Table 1. Differential Diagnosis of Dysplastic Nevi and Ocular Melanoma. Comparison of key clinical, histopathological, and distinguishing features of benign melanocytic nevi, dysplastic nevi (including DNS/FAMMM), cutaneous melanoma, and ocular melanoma (iris, conjunctival, or choroidal). This table highlights the characteristics used to differentiate these lesions and emphasizes the relative risk of malignant transformation, aiding in clinical evaluation and management.
Lesion Type Key Clinical Features Histopathology Notes / Distinguishing Points
Benign melanocytic nevus Symmetric, uniform color, well-defined borders, usually <5 mm Small, uniform nests of melanocytes, minimal cytologic atypia Stable over time, no significant risk of melanoma
Dysplastic nevus (DNS/FAMMM) Asymmetric, irregular borders, color variation, often >5 mm, evolution over time Architectural disorder, cytologic atypia, lamellar/concentric fibroplasia, “shoulder phenomenon” in compound nevi Marker of increased melanoma risk; usually benign
Cutaneous melanoma Rapidly changing pigmented lesion, irregular shape/color, ulceration, bleeding Marked cytologic atypia, mitotic figures, invasion into dermis May arise de novo or from preexisting nevus; high malignant potential
Ocular melanoma (iris, conjunctiva, choroid) Often asymptomatic; may cause blurred vision, flashes, floaters; pigmented mass in eye Spindle, epithelioid, or mixed cells; BAP1 loss associated with aggressive tumors Diagnosis relies on ophthalmic examination and imaging; choroidal melanoma most common

Management

Management of dysplastic nevus syndrome (DNS) and ocular nevi centers on surveillance, early detection, and risk reduction. Patients require regular skin and ophthalmic examinations, with documentation of baseline lesions and patient education on self-monitoring for changes in size, color, or visual symptoms.[17] No pharmacologic therapy exists to prevent progression, so timely surgical intervention is indicated for suspicious or vision-threatening lesions, ranging from excisional biopsy to resection, radiotherapy, or enucleation depending on lesion type and location. Follow-up is risk-adapted, utilizing imaging tools such as ultrasound, OCT, and fundus autofluorescence, and aims to detect recurrence, monitor vision, and identify complications, including malignant transformation and secondary ocular conditions.

General Treatment

The management of dysplastic nevus syndrome (DNS) focuses on surveillance, early detection, and risk reduction. Regular, comprehensive total-body skin examinations by a qualified clinician are recommended to monitor existing nevi and identify lesions that may require biopsy. In addition, individuals with DNS should undergo routine ophthalmologic evaluations, including anterior segment assessment and dilated fundus examination, to document and monitor iris, conjunctival, and choroidal nevi, even in the absence of ocular symptoms.[19]

Patient education is a critical component of management. Patients should be instructed in self-examination techniques for both skin and eyes, enabling them to detect changes in lesion size, shape, color, or border irregularity. They should also be aware of symptoms indicative of malignant transformation, including new visual disturbances, floaters, or changes in ocular pigmentation, shape, or size.[17] Empowering patients with knowledge and self-surveillance strategies complements professional monitoring and enhances early detection of potential malignant changes.

Medical Therapy

Currently, there is no established pharmacological therapy to prevent the development of dysplastic nevi or to reduce the risk of ocular melanoma. Consequently, early detection, regular surveillance, and prompt intervention remain the cornerstones of management, as timely identification of malignant transformation is critical for optimizing patient outcomes.

Medical Follow-up

Follow-up for patients with dysplastic nevus syndrome (DNS) should be risk-stratified. Individuals at lower risk may undergo annual dermatologic and ophthalmologic evaluations, whereas higher-risk patients—such as those with multiple atypical nevi, a family history of melanoma, lesion growth, or new symptoms—require more frequent monitoring.[19]

Ocular follow-up includes careful documentation of baseline conjunctival and iris nevi, supplemented by clinical photography and imaging for longitudinal comparison. Ancillary tools such as ocular ultrasound, optical coherence tomography (OCT), and fundus autofluorescence are valuable for detecting subtle changes in lesion size, morphology, or internal characteristics over time, facilitating early identification of malignant transformation.[16]

Surgery

Surgical intervention in dysplastic nevus syndrome (DNS) and ocular nevi is indicated for both diagnostic and therapeutic purposes. Surgery may be required when lesions impair vision, threaten ocular structural integrity, or demonstrate features suggestive of malignant transformation.[20] Excisional biopsy of conjunctival nevi is often performed to differentiate benign lesions from primary acquired melanosis or melanoma. For iris nevi at risk of malignant progression, surgical resection or localized radiotherapy may be employed. In cases of confirmed choroidal melanoma, treatment options include photocoagulation, plaque radiotherapy, or enucleation, depending on tumor size, location, and metastatic risk.[10] Timely surgical management is critical to preserve vision and optimize oncologic outcomes while ensuring accurate histopathologic diagnosis.

Surgical Follow-up

Structured follow‑up after treatment of ocular melanoma—including regular ocular examinations and systemic surveillance—is critical to detect local recurrence and distant metastasis, particularly to the liver. Post‑treatment follow‑up typically involves periodic ophthalmic examination with imaging to assess tumor status, and surveillance imaging (such as liver ultrasound or MRI) to monitor for metastatic disease. Regular follow‑up schedules often include 3–6 month intervals initially, with extended intervals thereafter, and imaging modalities such as abdominal ultrasound, CT, or MRI employed to detect hepatic metastases as early as possible.[22]

Complications

Complications in ocular dysplastic nevus syndrome (DNS) primarily relate to malignant transformation of nevi into ocular melanoma. Lesions may also cause vision impairment through disruption of ocular anatomy or secondary effects such as glaucoma. In addition, surgical interventions carry inherent risks, including infection, inflammation, scarring, and potential vision loss.[23] Awareness of these complications underscores the importance of careful monitoring, timely intervention, and meticulous surgical technique to minimize adverse outcomes.

Prognosis

Although many ocular nevi remain benign throughout life, early detection of malignant transformation is critical for achieving local disease control, preserving vision, and improving overall survival. Prognosis is influenced by a combination of clinical, genetic, and pathological factors.[17] For example, in conjunctival nevi, lesions located in the fornix or palpebral conjunctiva are associated with worse outcomes compared to those on the bulbar conjunctiva.[19] Similarly, larger lesions or those demonstrating lymphatic invasion carry a higher risk of local recurrence and metastasis.[24] Careful risk stratification and close monitoring are therefore essential for optimizing long-term outcomes.

Global Variants

Ocular melanoma demonstrates significant geographic and ethnic variation worldwide. Higher incidence rates are observed in populations of European descent, whereas rates are lower in Asian and African populations.[18] This variation is likely influenced by pigmentation traits, such as lighter iris color, as well as genetic factors, including specific single nucleotide polymorphisms (SNPs).[25] In addition, hereditary predisposition syndromes—particularly dysplastic nevus syndrome (DNS) and BAP1 tumor predisposition syndrome—may contribute to population differences in risk.[26]

Several studies have investigated the association between DNS and ocular melanoma. Patients with DNS appear to have a fourfold increased lifetime risk of uveal melanoma compared with individuals without the syndrome. Other reports indicate that individuals with DNS tend to have a higher number of ocular pigmented lesions, although this does not necessarily correspond to malignant transformation.[18] Consequently, while there is evidence of some correlation between DNS and ocular melanoma risk, the direct causal relationship remains unclear, and further research is needed to clarify global incidence patterns, genetic contributions, and environmental influences.

References

  1. ↑ 1.0 1.1 1.2 Baigrie D, Tanner LS. Dysplastic Nevi. [Updated 2022 Oct 24]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK482210/
  2. ↑ 2.0 2.1 2.2 Rodriguez-Sains RS. Ocular findings in patients with dysplastic nevus syndrome. An update. Dermatol Clin. 1991 Oct;9(4):723-8. PMID: 1934647.
  3. ↑ Brănișteanu DE, Porumb-Andrese E, Stărică A, Munteanu AC, Toader MP, Zemba M, Porumb V, Cozmin M, Moraru AD, Nicolescu AC, Brănișteanu DC. Differences and Similarities in Epidemiology and Risk Factors for Cutaneous and Uveal Melanoma. Medicina (Kaunas). 2023 May 14;59(5):943. doi: 10.3390/medicina59050943. PMID: 37241175; PMCID: PMC10224090.
  4. ↑ Duffy K, Grossman D. The dysplastic nevus: from historical perspective to management in the modern era: part I. Historical, histologic, and clinical aspects. J Am Acad Dermatol. 2012 Jul;67(1):1.e1-16; quiz 17-8. doi: 10.1016/j.jaad.2012.02.047. PMID: 22703915; PMCID: PMC3625372
  5. ↑ Chen, Sheng MD, PhD. The Dysplastic Nevus Controversy: It Is Not About the Nevus per se But One's Belief in the Multistep Tumorigenesis Theory. The American Journal of Dermatopathology 32(8):p 858, December 2010. | DOI: 10.1097/DAD.0b013e3181dc0fda
  6. ↑ Vink J, Crijns MB, Mooy CM, Bergman W, Oosterhuis JA, Went LN. Ocular melanoma in families with dysplastic nevus syndrome. J Am Acad Dermatol. 1990 Nov;23(5 Pt 1):858-62. doi: 10.1016/0190-9622(90)70304-z . PMID: 2254470.
  7. ↑ Hammer H, Oláh J, Tóth-Molnár E. Dysplastic nevi are a risk factor for uveal melanoma. Eur J Ophthalmol. 1996 Oct-Dec;6(4):472-4. doi: 10.1177/112067219600600423. PMID: 8997595.
  8. ↑ Eckerle Mize D, Bishop M, Resse E, Sluzevich J. Familial Atypical Multiple Mole Melanoma Syndrome. In: Riegert-Johnson DL, Boardman LA, Hefferon T, Roberts M, editors. Cancer Syndromes [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2009–. PMID: 21249757.
  9. ↑ Wu M, Yavuzyigitoglu S, Brosens E, Ramdas WD, Kiliç E; Rotterdam Ocular Melanoma Study Group (ROMS). Worldwide Incidence of Ocular Melanoma and Correlation With Pigmentation-Related Risk Factors. Invest Ophthalmol Vis Sci. 2023 Oct 3;64(13):45. doi: 10.1167/iovs.64.13.45. PMID: 37902747; PMCID: PMC10617638.
  10. ↑ 10.0 10.1 Goldstein AM, Tucker MA. Dysplastic nevi and melanoma. Cancer Epidemiol Biomarkers Prev. 2013 Apr;22(4):528-32. doi: 10.1158/1055-9965.EPI-12-1346. PMID: 23549396; PMCID: PMC3616416.
  11. ↑ Clemente C, Cochran AJ, Elder DE, Levene A, MacKie RM, Mihm MC, Rilke F, Cascinelli N, Fitzpatrick TB, Sober AJ. Histopathologic diagnosis of dysplastic nevi: concordance among pathologists convened by the World Health Organization Melanoma Programme. Hum Pathol. 1991 Apr;22(4):313-9. doi: 10.1016/0046-8177(91)90078-4 . PMID: 1741810.
  12. ↑ Duffy K, Grossman D. The dysplastic nevus: from historical perspective to management in the modern era: part II. Molecular aspects and clinical management. J Am Acad Dermatol. 2012 Jul;67(1):19.e1-12; quiz 31-2. doi: 10.1016/j.jaad.2012.03.013. PMID: 22703916; PMCID: PMC3621132.
  13. ↑ Valdebran M, Bandino J, Elbendary A, Gad A, Arudra KC, de Feraudy S, Elston DM. Nuclear and cytoplasmic features in the diagnosis of Clark's nevi. J Cutan Pathol. 2018 Mar;45(3):204-207. doi: 10.1111/cup.13085. Epub 2017 Dec 28. PMID: 29193203; PMCID: PMC6075672
  14. ↑ Seregard S, af Trampe E, Månsson-Brahme E, Kock E, Bergenmar M, Ringborg U. Prevalence of primary acquired melanosis and nevi of the conjunctiva and uvea in the dysplastic nevus syndrome. A case-control study. Ophthalmology. 1995 Oct;102(10):1524-9. doi: 10.1016/s0161-6420(95)30836-6. PMID: 9097801.
  15. ↑           Hammer H, Oláh J, Tóth-Molnár E. Dysplastic nevi are a risk factor for uveal melanoma. Eur J Ophthalmol. 1996 Oct-Dec;6(4):472-4. doi: 10.1177/112067219600600423. PMID: 8997595.
  16. ↑ 16.0 16.1 16.2 16.3 Stålhammar G. A Word of Caution regarding Risk Factors for Malignant Transformation of Choroidal Nevi. Ocul Oncol Pathol. 2021 Oct;7(5):376-380. doi: 10.1159/000518868. Epub 2021 Aug 4. PMID: 34722495; PMCID: PMC8531816.
  17. ↑ 17.0 17.1 17.2 17.3 17.4 Jennifer M. Grin, Jane M. Grant-Kels, Caron M. Grin, Adrienne Berke, Barry D. Kels, Ocular melanomas and melanocytic lesions of the eye, Journal of the American Academy of Dermatology, Volume 38, Issue 5, 1998, Pages 716-730, ISSN 0190-9622,https://doi.org/10.1016/S0190-9622(98)70201-4 .
  18. ↑ 18.0 18.1 18.2 Wu M, Yavuzyigitoglu S, Brosens E, Ramdas WD, Kiliç E; Rotterdam Ocular Melanoma Study Group (ROMS). Worldwide Incidence of Ocular Melanoma and Correlation With Pigmentation-Related Risk Factors. Invest Ophthalmol Vis Sci. 2023 Oct 3;64(13):45. doi: 10.1167/iovs.64.13.45. PMID: 37902747; PMCID: PMC10617638
  19. ↑ 19.0 19.1 19.2 19.3 19.4 Toth-Molnar E, Olah J, Dobozy A, Hammer H. Ocular pigmented findings in patients with dysplastic naevus syndrome. Melanoma Res. 2004 Feb;14(1):43-7. doi: 10.1097/00008390-200402000-00007. PMID: 15091193
  20. ↑ 20.0 20.1 20.2 lliot Cherkas, Nicholas E. Kalafatis, Molly R. Marous, Carol L. Shields, Iris melanoma: Review of clinical features, risks, management, and outcomes, Clinics in Dermatology, Volume 42, Issue 1, 2024, Pages 62-70, ISSN 0738-081X, https://doi.org/10.1016/j.clindermatol.2023.10.009 .
  21. ↑ 21.0 21.1 Iavarone L, Franco R, Zito Marino F, D'Abbronzo G, Argenziano G, Scharf C, Nucci G, Ronchi A, Cazzato G. Ocular Melanoma: A Comprehensive Review with a Focus on Molecular Biology. Int J Mol Sci. 2025 Oct 8;26(19):9799. doi: 10.3390/ijms26199799. PMID: 41097064; PMCID: PMC12525446
  22. ↑ Foti, P.V., Travali, M., Farina, R. et al. Diagnostic methods and therapeutic options of uveal melanoma with emphasis on MR imaging—Part II: treatment indications and complications. Insights Imaging 12, 67 (2021). https://doi.org/10.1186/s13244-021-01001-w
  23. ↑ Marghoob AA. The dangers of atypical mole (dysplastic nevus) syndrome. Teaching at-risk patients to protect themselves from melanoma. Postgrad Med. 1999;105(7):. doi:10.3810/pgm.1999.06.624
  24. ↑ Heindl LM, Hofmann-Rummelt C, Adler W, et al. Prognostic significance of tumor-associated lymphangiogenesis in malignant melanomas of the conjunctiva. Ophthalmology. 2011;118(12):2351-2360. doi:10.1016/j.ophtha.2011.05.025
  25. ↑ Houtzagers, Laurien E., Annemijn P. A. Wierenga, Aleid A. M. Ruys, Gregorius P. M. Luyten, and Martine J. Jager. 2020. "Iris Colour and the Risk of Developing Uveal Melanoma" International Journal of Molecular Sciences 21, no. 19: 7172. https://doi.org/10.3390/ijms21197172
  26. ↑ Hou X, Rokohl AC, Li X, et al. Global incidence and prevalence in uveal melanoma. Adv Ophthalmol Pract Res. 2024;4(4):226-232. Published 2024 Oct 9. doi:10.1016/j.aopr.2024.10.001
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