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    [Gorlin-Goltz Syndrome: Diagnosis and Treatment Options].
    Acta Med Port 2017 May 31;30(5):418-421. Epub 2017 May 31.
    Serviço de Dermatologia e Venereologia. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal. Departamento de Dermatologia. Faculdade de Medicina. Universidade de Coimbra. Coimbra. Portugal.
    The Gorlin-Goltz syndrome is a rare autosomal dominant hereditary condition, with complete penetrance and variable expressivity. Characterized by the appearance of multiple basaliomas, and often the development of keratocyst, it can also express itself by the presence of palmar/plantar depressions, calcification of brain sickle, and skeletal birth defects, although less frequently. This article presents two cases involving direct relatives, referred after the identification of several basaliomas and jaw cysts. After establishing the diagnosis, given the identification of three major criteria, the treatment consisted in the excision of the lesions followed, in one case, with vismodegib treatment resulting in complete remission. Gorlin-Goltz syndrome is therefore a multidisciplinary challenge, whose variable morbidity and high risk of recurrence make treatment and surveillance critical. However, new molecular targeted therapies have brought a new hope in treating these patients.

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    Genetic mutations in Gorlin-Goltz syndrome.
    Indian J Hum Genet 2013 Jul;19(3):369-72
    Department of Pedodontics, Mamatha Dental College, Khammam, Andhra Pradesh, India.
    Gorlin-Goltz syndrome is a rare multisystemic disease inherited in a dominant autosomal at a high level of penetrance and variable expressiveness. It is mainly characterized by basal cell carcinoma, odontogenic keratocyst and skeletal anomalies. Diagnosis is based upon established major and minor clinical and radiographic criteria and gene mutation analysis. Read More
    Treatment of multiple unresectable basal cell carcinomas from Gorlin-Goltz syndrome: a case report.
    Anticancer Res 2015 Mar;35(3):1777-81
    Department of Internal Medicine, SUNY Upstate Medical University Hospital, Syracuse, NY, U.S.A.
    Background: Nevoid basal cell carcinoma syndrome (NBCCS), which is also known by other names, including Gorlin-Goltz syndrome and multiple basal-cell carcinoma (BCC) syndrome, is a rare multi-systemic disease inherited in a dominant autosomal manner with complete penetrance and variable expressivity. The main clinical manifestations include multiple BCCs, odontogenic keratocysts of the jaw, hyperkeratosis of the palms and soles, skeletal abnormalities, intracranial calcifications and facial deformities.

    Patients And Methods: A 31-year-old male diagnosed with Gorlin-Goltz syndrome with multiple unresectable facial BCCs was treated with the Hedgehog inhibitor vismodegib. Read More
    Basal cell carcinoma of the eyelid associated with Gorlin-Goltz syndrome.
    Ophthalmology 2001 Jun;108(6):1115-23
    Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
    Purpose: To describe the ophthalmic and systemic features in a series of patients initially seen with eyelid basal cell carcinoma associated with Gorlin-Goltz syndrome.

    Design: Retrospective noncomparative case series.

    Participants: Of 105 consecutive patients with eyelid basal cell carcinoma managed at an Ocular Oncology Center between January 1973 and December 1999, four patients with Gorlin-Goltz syndrome were identified. Read More
    Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome.
    Contemp Clin Dent 2015 Mar;6(Suppl 1):S102-5
    Department of Oral Medicine and Radiology, KLE VKIDS, Belgaum, Karnataka Belgaum, India.
    Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. Read More