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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Updated: Aug 28, 2025

Author Spotlight: Anterior HR-OCT as a Non-Invasive Tool for Characterizing Ocular Surface Squamous Neoplasia
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Solitary Intratarsal Blue Nevus.

Norman C Charles1,2, Eleanore T Kim1

  • 1Department of Ophthalmology, New York University Langone Medical Center, New York, New York, U.S.A.

Ophthalmic Plastic and Reconstructive Surgery
|September 22, 2022
PubMed
Summary
This summary is machine-generated.

A rare case of conjunctival blue nevus was found in a 42-year-old woman. This benign lesion, located in the eyelid, was confirmed through microscopic and immunohistochemical analysis, ruling out melanoma.

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Area of Science:

  • Ophthalmology
  • Dermatopathology
  • Oncology

Background:

  • Pigmented lesions of the palpebral conjunctiva require careful evaluation due to the potential for melanoma.
  • Early detection and complete excision are crucial for managing suspicious eyelid lesions.

Observation:

  • A 42-year-old woman presented with a small, asymptomatic pigmented lesion on the palpebral conjunctiva.
  • The lesion was surgically removed due to clinical suspicion of melanoma.

Findings:

  • Microscopic examination revealed an intratarsal blue nevus involving the meibomian glands.
  • The nevus comprised bland spindle and epithelioid cells, immunoreactive for Melan-A, with a negative Ki67 proliferative index.
  • Absence of significant cellular proliferation and presence of melanophages supported a benign diagnosis, distinguishing it from melanoma.

Implications:

  • This case highlights the occurrence of a solitary tarsal blue nevus, distinct from previously described combined nevi.
  • It underscores the importance of surgical excision for accurate diagnosis of palpebral pigmented lesions.
  • Pathological confirmation is essential to differentiate benign nevi from malignant melanoma of the conjunctiva.