Subconjunctival Epidermoid Cysts in Gorlin-Goltz Syndrome

Craene, S. De; Batteauw, A.; Lint, M. Van; Claerhout, Ilse J; Decock, Christian

doi:10.3109/01676830.2013.764445

Cited by 8 publications

(4 citation statements)

References 6 publications

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“… 1 , 45 , 48 - 50 Intratarsal eyelid cysts have been suggested to appear similar to sporadic intratarsal keratinous cysts and closely resembled OKCs of the jaw histopathologically. 49 Our investigation of cutaneous epidermoid cysts and OKCs did not reveal a statistically significant association.…”

Section: Discussioncontrasting

confidence: 58%

Gorlin Syndrome: A Comprehensive Evaluation of Skin Findings

Atcı,

Melnicova,

Baykal

2024

Turkish Archives of Pediatrics

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Objective: Although Gorlin syndrome has rich skin findings, there is limited information about their subtypes, features specific to this genodermatosis, and relationships with each other. Materials and Methods: The demographic characteristics as well as cutaneous and extracutaneous findings of consecutive Gorlin syndrome patients diagnosed during 23 years were evaluated retrospectively. The relationship between palmoplantar pitting and basal cell carcinoma (BCC) in this localization and the relationship between odontogenic keratocysts (OKCs) and epidermoid cysts were investigated. Results: A total of 30 patients were diagnosed with Gorlin syndrome of whom 36.7% were children. BCC was the most common finding (90%) followed by OKCs (83.3%), skeletal system anomalies (76.7%), and palmoplantar pitting (76.7%). While classical BCC (63.3%) lesions were the predominant clinical subtype among all patients, acrochordon-like or small-sized papular BCCs were seen in 45.4% of pediatric patients. Three patients, 2 of whom were children, had BCC lesions in the palmoplantar region in association with palmoplantar pitting. Epidermoid cysts presenting clinically as solitary (n = 12) or a few nodules (n = 4) without punctum, located more commonly in acral areas (n = 10) were seen in 16 (53.3%) patients of whom 7 were children. Epidermoid cysts were seen in 60% of patients with OKCs, and the relationship between epidermoid cysts and OKCs was not statistically significant ( P = .15). Extracutaneous tumors such as medulloblastoma (n = 3), cardiac fibroma (n = 1), and ameloblastoma (n = 1) were also recorded. Conclusion: The awareness of papular or acrochordon-like BCCs, palmoplantar BCCs, and acral epidermoid cysts without punctum may facilitate early diagnosis of Gorlin syndrome in children.

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Section: Discussioncontrasting

confidence: 58%

Gorlin Syndrome: A Comprehensive Evaluation of Skin Findings

Atcı,

Melnicova,

Baykal

2024

Turkish Archives of Pediatrics

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“…Nystagmus, colobomas of the iris, choroid, and optic nerve, congenital glaucoma, iris transillumination defects, and subconjunctival epidermoid cysts are even rarer (usually in the 1–5% range), but well documented. 13 17 29 30 …”

Section: Ophthalmologic Findingsmentioning

confidence: 99%

Review of ocular manifestations of nevoid basal cell carcinoma syndrome: What an ophthalmologist needs to know

Chen

Sartori²,

Aakalu

et al. 2015

Middle East Afr J Ophthalmol

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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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“…Esta patologia tem como localização mais comum o ânus (44.5%) seguido pelo ovário (42.1%), enquanto a cabeça e pescoço, como a região submandibular, representam uma porção de 7% dos casos (Baisakhiya, et al, 2011;Dutta, et Research, Society and Development, v. 9, n. 9, e109997015, 2020(CC BY 4.0) | ISSN 2525-3409 | DOI: http://dx.doi.org/10.33448/rsd-v9i9.7015 6 al., 2013. Geralmente as lesões são únicas, mas em condições sindrômicas como na síndrome de Gorlin-Goltz, caracterizada por alterações esqueléticas, neurológicas e cutâneas, tem-se múltiplos cistos epidermoides distribuídos pelo corpo do indivíduo (De Craene, et al, 2014).…”

Section: Discussionunclassified

Diagnóstico e tratamento de cisto epidermoide: relato de caso

Santos

Barbosa

Neto

et al. 2020

RSD

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O cisto epidermoide é um cisto de desenvolvimento não odontogênico relativamente comum e que tem origem relacionada a implantação de restos epiteliais durante a fusão dos processos embrionários. O presente artigo tem como objetivo relatar um caso de cisto epidermoide em região mandibular, com ênfase no seu diagnóstico e conduta clínica. O paciente adulto jovem, apresentou aumento de volume em região de corpo mandibular direito. A lesão foi removida por meio de excisão cirúrgica simples, sob anestesia local, e a peça encaminhada para análise histopatológica, afim de confirmar a hipótese clínica de cisto epidermoide. Durante o acompanhamento não foram necessárias reintervenções, demonstrando que se trata de uma lesão de fácil resolução, por meio de um procedimento cirúrgico simples.

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Subconjunctival Epidermoid Cysts in Gorlin-Goltz Syndrome

Cited by 8 publications

References 6 publications

Gorlin Syndrome: A Comprehensive Evaluation of Skin Findings

Gorlin Syndrome: A Comprehensive Evaluation of Skin Findings

Review of ocular manifestations of nevoid basal cell carcinoma syndrome: What an ophthalmologist needs to know

Diagnóstico e tratamento de cisto epidermoide: relato de caso

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