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Review of Ocular Manifestations of Nevoid Basal Cell Carcinoma Syndrome: What an Ophthalmologist Needs to Know.

Chen JJ, Sartori J, Aakalu VK, Setabutr P - Middle East Afr J Ophthalmol (2015 Oct-Dec)

Bottom Line: Myriad ophthalmologic findings are associated with NBCCS, including periocular BCCs, hypertelorism, strabismus, myelinated nerve fibers, and disorders of the retina and retinal pigment epithelium.Of 33 papers, 31 were included.Therefore, familiarity with this disorder across clinical specialties is necessary to avoid misdiagnosis.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology and Visual Sciences, Illinois Eye Institute, University of Illinois at Chicago, Chicago, Illinois, USA.

ABSTRACT
Nevoid basal cell carcinoma syndrome (NBCCS) is a rare, autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), odontogenic keratocysts, palmar and/or plantar pits, and ectopic calcifications of the falx cerebri. Myriad ophthalmologic findings are associated with NBCCS, including periocular BCCs, hypertelorism, strabismus, myelinated nerve fibers, and disorders of the retina and retinal pigment epithelium. We performed a literature search in PubMed for articles on the ophthalmologic manifestations of Gorlin syndrome, published between 1984 and 2014. Of 33 papers, 31 were included. Although Gorlin syndrome is due to mutations in a single gene, it displays variable phenotypic expressivity. Therefore, familiarity with this disorder across clinical specialties is necessary to avoid misdiagnosis. The ophthalmologist should be included in the multidisciplinary team for the management of Gorlin syndrome in order to prevent visual loss and improve the quality of life of these patients.

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Related in: MedlinePlus

Photograph of the patient's eyes displaying innumerable basal cell carcinomas on lower eyelid bilaterally, obscuring the eyelid margin
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Figure 1: Photograph of the patient's eyes displaying innumerable basal cell carcinomas on lower eyelid bilaterally, obscuring the eyelid margin

Mentions: On clinical examination, unaided visual acuity was 20/50 in the right eye and 20/25 in the left eye. External examination revealed multiple large, purple, ulcerating lesions on the lower eyelids, obliterating the eyelid margins and lateral canthi, and causing ectropion bilaterally [Figure 1]. Many smaller nevi were scattered on the face. Hypertelorism and a wide nasal bridge were noted. Anterior segment exam showed well-healed laser in situ keratomileusis flaps bilaterally, a foreshortened lower fornix in the right eye and multiple iris nevi bilaterally. Dilated fundus examination was significant for a thick epiretinal membrane and a lamellar macular hole in the right eye. Inspection of the patient's hands revealed palmar pits [Figure 2]. Keratocystic odontogenic tumors of the maxillary sinuses and calcification of the dura were evident on maxillofacial and head computed tomography, respectively [Figure 3].


Review of Ocular Manifestations of Nevoid Basal Cell Carcinoma Syndrome: What an Ophthalmologist Needs to Know.

Chen JJ, Sartori J, Aakalu VK, Setabutr P - Middle East Afr J Ophthalmol (2015 Oct-Dec)

Photograph of the patient's eyes displaying innumerable basal cell carcinomas on lower eyelid bilaterally, obscuring the eyelid margin
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4660526&req=5

Figure 1: Photograph of the patient's eyes displaying innumerable basal cell carcinomas on lower eyelid bilaterally, obscuring the eyelid margin
Mentions: On clinical examination, unaided visual acuity was 20/50 in the right eye and 20/25 in the left eye. External examination revealed multiple large, purple, ulcerating lesions on the lower eyelids, obliterating the eyelid margins and lateral canthi, and causing ectropion bilaterally [Figure 1]. Many smaller nevi were scattered on the face. Hypertelorism and a wide nasal bridge were noted. Anterior segment exam showed well-healed laser in situ keratomileusis flaps bilaterally, a foreshortened lower fornix in the right eye and multiple iris nevi bilaterally. Dilated fundus examination was significant for a thick epiretinal membrane and a lamellar macular hole in the right eye. Inspection of the patient's hands revealed palmar pits [Figure 2]. Keratocystic odontogenic tumors of the maxillary sinuses and calcification of the dura were evident on maxillofacial and head computed tomography, respectively [Figure 3].

Bottom Line: Myriad ophthalmologic findings are associated with NBCCS, including periocular BCCs, hypertelorism, strabismus, myelinated nerve fibers, and disorders of the retina and retinal pigment epithelium.Of 33 papers, 31 were included.Therefore, familiarity with this disorder across clinical specialties is necessary to avoid misdiagnosis.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology and Visual Sciences, Illinois Eye Institute, University of Illinois at Chicago, Chicago, Illinois, USA.

ABSTRACT
Nevoid basal cell carcinoma syndrome (NBCCS) is a rare, autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), odontogenic keratocysts, palmar and/or plantar pits, and ectopic calcifications of the falx cerebri. Myriad ophthalmologic findings are associated with NBCCS, including periocular BCCs, hypertelorism, strabismus, myelinated nerve fibers, and disorders of the retina and retinal pigment epithelium. We performed a literature search in PubMed for articles on the ophthalmologic manifestations of Gorlin syndrome, published between 1984 and 2014. Of 33 papers, 31 were included. Although Gorlin syndrome is due to mutations in a single gene, it displays variable phenotypic expressivity. Therefore, familiarity with this disorder across clinical specialties is necessary to avoid misdiagnosis. The ophthalmologist should be included in the multidisciplinary team for the management of Gorlin syndrome in order to prevent visual loss and improve the quality of life of these patients.

Show MeSH
Related in: MedlinePlus