Cutaneous Keratocyst With D2-40 Immunoreactivity in Basal Cell Nevus Syndrome

Goggins, Clare A; Zerah, Michele L.; Anatelli, Florencia; Norton, Scott A.

doi:10.1097/dad.0000000000001638

Cited by 2 publications

(2 citation statements)

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“…In some previous reports, cutaneous cysts in Gorlin syndrome were stated as keratocysts due to the similar histopathological appearance of OKCs, supporting the possibility that they could be another cutaneous marker for this genodermatosis. 37 , 38 , 42 , 43 , 46 , 47 In another study investigating 23 epidermoid cysts in Gorlin syndrome, no differences were recorded between lesions in palmoplantar and other anatomic locations regarding histologic and immunohistochemical characteristics. 41 Remarkably, epidermoid cysts were also recorded on the palpebral conjunctiva of upper eyelid in one of our adult patients, which has rarely been reported previously.…”

Section: Discussionmentioning

confidence: 96%

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: Discussionmentioning

confidence: 96%

Gorlin Syndrome: A Comprehensive Evaluation of Skin Findings

Atcı,

Melnicova,

Baykal

2024

Turkish Archives of Pediatrics

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“…CKCs have been suggested to be developmentally related to OKCs, and as such, may exhibit similar behavior. This observation was based on the demonstration of D2-40 (podoplanin) immunoreactivity in a CKC diagnosed in a patient with NBCCS [10]. Flores et al has proposed that CKCs should be renamed as "isthmic-anagen cysts" based on many shared morphological characteristics with the isthmus of hair follicle during the anagen phase of growth, including the presence of a parakeratosis layer and an irregular, wavy, and corrugated luminal surface [8].…”

Section: Casementioning

confidence: 99%