戈林综合征:皮肤检查结果的综合评估。

IF 1.3 Q3 PEDIATRICS Turkish archives of pediatrics Pub Date : 2024-03-01 DOI:10.5152/TurkArchPediatr.2024.23231
Tuğba Atcı, Elizaveta Melnicova, Can Baykal
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引用次数: 0

摘要

目的:尽管戈林综合征有丰富的皮肤发现,但有关其亚型、这种基因皮肤病的特殊特征以及相互关系的信息却很有限:回顾性评估了 23 年间连续确诊的戈林综合征患者的人口统计学特征以及皮肤和皮肤外检查结果。研究了掌跖凹陷与基底细胞癌(BCC)之间的关系,以及牙源性角化囊肿(OKC)与表皮样囊肿之间的关系:共有30名患者被诊断为戈林综合征,其中36.7%为儿童。BCC 是最常见的病变(90%),其次是 OKC(83.3%)、骨骼系统异常(76.7%)和掌跖点状瘤(76.7%)。在所有患者中,典型 BCC(63.3%)病变是最主要的临床亚型,而在 45.4% 的儿童患者中,出现了尖丘疹样或小面积丘疹性 BCC。有 3 名患者(其中 2 名是儿童)的掌跖部位出现 BCC 病变,并伴有掌跖点状损害。表皮样囊肿临床表现为单发(12 例)或几个结节(4 例),无穿刺点,多发于尖锐湿疣部位(10 例),有 16 例(53.3%)患者,其中 7 例为儿童。60%的 OKC 患者有表皮样囊肿,表皮样囊肿与 OKC 之间的关系无统计学意义(P = .15)。此外,还记录到髓母细胞瘤(3 例)、心脏纤维瘤(1 例)和釉母细胞瘤(1 例)等皮外肿瘤:结论:对丘疹型或尖角型BCC、掌跖BCC和无点状突起的尖角表皮样囊肿的认识有助于早期诊断儿童戈林综合征。
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Gorlin Syndrome: A Comprehensive Evaluation of Skin Findings.

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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