Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Review

Subramanyam, Shalini; Sujata, Devi; Sridhar, Kunju; Pushpanjali, M.

doi:10.1007/s12663-011-0262-5

Cited by 8 publications

(8 citation statements)

References 15 publications

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“…For this, radiographic exams, which have a low cost, must be used [14]. As the syndrome is of autosomal dominant inheritance, offspring have 50% risk of being affected [1,14,22]. However, some syndromic patients can present a new spontaneous mutation [23,24], with no history of an affected family member [15].…”

Section: Discussionmentioning

confidence: 99%

Gorlin-Goltz Syndrome: A Case Report

de¹,

Santos²,

Gomes³

et al. 2021

Archives Oral Maxillofac Surg

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Nevoid basal cell carcinoma syndrome usually presents as an autosomal dominantly inherited syndrome with variable phenotypic expression. The aim of this study was to report a case of this syndrome based on clinical, radiographic, and histopathological findings. Male patient, 13-years-old, attended the Oral Diagnostic Clinic from State University of Paraiba, complaining of mandible swelling. On physical examination, left facial asymmetry was found, with mandible swelling and inflammatory submandibular lymphadenopathy. The patient also presented polydactyly. Panoramic radiography showed a multilocular well-defined mandibular radiolucency in anterior region. An incisional biopsy was performed, confirming the diagnosis of odontogenic keratocyst. Skull postero-anterior and thorax radiographic images were also performed, with no alterations. The patient was clinically diagnosed as having nevoid basal cell carcinoma syndrome with the presence of odontogenic keratocyst as a major criterion and the following minor criteria: Polydactyly, hypertelorism, Sprengel anomaly, deformed chest and prominent frontal bossing. The patient was referred to the physician for evaluation. Nevoid basal cell carcinoma syndrome has several distinct clinical characteristics and careful investigation is important, especially using imaging tests as complementary exams.

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Section: Discussionmentioning

confidence: 99%

Gorlin-Goltz Syndrome: A Case Report

de¹,

Santos²,

Gomes³

et al. 2021

Archives Oral Maxillofac Surg

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“…One source of diagnostic criteria for NBCCS establishes two major or one major and two minor diagnostic criteria [5]. The variability in expressivity and the difference in age of onset of the different characteristics of the disorder may cause difficulty in diagnosing patients [6]. Diagnosis can be confirmed by molecular genetic testing with the identification of a heterozygous germline pathogenic variant in PTCH1 or SUFU [3].…”

Section: Case Discussionmentioning

confidence: 99%

Gorlin syndrome in a patient with skin type VI

Poladian

Difato²,

Anderson³

et al. 2019

Dermatology Online Journal

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“…BCCs in GGS patients range in number from a few to many thousands of lesions, with the face, back and chest being the most commonly involved sites [ 8 ]. The highest incidence of BCCs in these individuals is between puberty and age 35, with increased sun exposure believed to be a risk factor [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

A multidisciplinary approach to the successful management of Gorlin syndrome

Mello

Khan

Choudry

2017

Journal of Surgical Case Reports

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Gorlin–Goltz syndrome (GGS) is a rare genetic syndrome with variable expressivity and autosomal dominant inheritance. The major features of GGS include numerous basal cell carcinomas (BCCs), keratocysts of the jaw, palmar/plantar pits and calcification of the falx cerebri. Authors report the case of a 51-year-old male with a 19-year history of GGS and multiple BCCs of the head and neck. He presented with a large ulcerating lesion on the right side of his face involving cutaneous, subcutaneous and muscular tissues of the temporal and orbital region. Additionally, magnetic resonance imaging revealed involvement of the right zygomatic bone, infratemporal fossa and mandible. This case is notable in that BCC invasion of the facial bones is rare. Extensive resection and reconstruction with a latissimus dorsi microvascular free muscle flap was performed. The success of this challenging case exemplifies the need for a multidisciplinary team that included dermatology, plastic surgery, oculoplastics and otolaryngology.

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Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Review

Cited by 8 publications

References 15 publications

Gorlin-Goltz Syndrome: A Case Report

Gorlin-Goltz Syndrome: A Case Report

Gorlin syndrome in a patient with skin type VI

A multidisciplinary approach to the successful management of Gorlin syndrome

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