Gorlin goltz syndrome : A case report and literature review with PTCH1 gene sequencing
Sign Up to like & getrecommendations! Published in 2023 at "Archives of Plastic Surgery"
DOI: 10.1055/a-2096-3536
Abstract: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 (PTCH1) gene variants and/or SUFU gene variants.… read more here.
Keywords: gorlin goltz; ptch1 gene; goltz syndrome; confirmation ... See more keywords
A Case of Gorlin-Goltz Syndrome Without the Characteristic Physical Features That Was Diagnosed After the Development of a Fifth Cancer.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of pediatric hematology/oncology"
DOI: 10.1097/mph.0000000000002436
Abstract: We present a case of Gorlin-Goltz syndrome (GGS) in a patient who developed medulloblastoma, osteosarcoma, myelodysplastic syndrome, basal cell carcinoma, and odontogenic keratocyst by the age of 19 years. He had no known family history… read more here.
Keywords: characteristic physical; case gorlin; gorlin goltz; syndrome ... See more keywords
Supraclavicular Dermo-Muscular Agenesis in an Infant With Gorlin-Goltz Syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Craniofacial Surgery"
DOI: 10.1097/scs.0000000000004667
Abstract: Abstract Gorlin–Goltz syndrome (GGS) is generally characterized by the dysplasia of the skin, skeletal system, and connective tissue. In this paper, a 40-day-old baby presented with dermal and muscular agenesis on the right supraclavicular region… read more here.
Keywords: agenesis; muscular agenesis; goltz syndrome; gorlin goltz ... See more keywords
Amenorrhea secondary to vismodegib: An adverse event to consider especially in female patients with Gorlin‐Goltz syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Dermatologic Therapy"
DOI: 10.1111/dth.13527
Abstract: Dear Editor, Vismodegib, a first-in-class inhibitor of the hedgehog signaling pathway, is indicated to treat metastatic or locally advanced basal cell carcinoma (BCC). Mutations in Patched 1 (PTCH1) and smoothened (SMO) proteins of the Hedgehog… read more here.
Keywords: amenorrhea secondary; goltz syndrome; vismodegib; gorlin goltz ... See more keywords
Novel uses of laser therapy in Goltz syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Dermatologic Therapy"
DOI: 10.1111/dth.15371
Abstract: Goltz syndrome is an X‐linked dominant, multisystem birth defect due to PORCN mutation. The skin findings follow Blaschko's lines and often show epidermal atrophy and herniation of subcutaneous fatty tissue. Regarding treatment, light sources can… read more here.
Keywords: novel uses; syndrome; goltz syndrome; laser therapy ... See more keywords
Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK
Sign Up to like & getrecommendations! Published in 2019 at "BMJ Case Reports"
DOI: 10.1136/bcr-2019-231809
Abstract: Goltz syndrome or focal dermal hypoplasia (FDH), is an X-linked dominant condition which predominantly involves the skin, limbs and eyes. In otolaryngology, FDH has been poorly described, but can result in increased symptoms of obstructive… read more here.
Keywords: focal dermal; goltz syndrome; dermal hypoplasia; case ... See more keywords
Surprising genetic and pathological findings in a patient with giant bilateral periadrenal tumours: PEComas and mutations of PTCH1 in Gorlin-Goltz syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of medical genetics"
DOI: 10.1136/jmedgenet-2021-108082
Abstract: Gorlin-Goltz syndrome (GGS) or nevoid basal cell carcinoma syndrome is a rare tumour-overgrowth syndrome associated with multiple developmental anomalies and a wide variety of tumours. Here, we describe a case of a man aged 23… read more here.
Keywords: gorlin goltz; surprising genetic; goltz syndrome; tumours pecomas ... See more keywords
Fluorine 18 Fluorodeoxyglucose PET/CT Findings in Gorlin-Goltz Syndrome.
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DOI: 10.1148/radiol.2021204508
Abstract: Online supplemental material is available for this article. read more here.
Keywords: fluorodeoxyglucose pet; findings gorlin; goltz syndrome; fluorine fluorodeoxyglucose ... See more keywords
Genetic aspects of Gorlin‒Goltz syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Orvosi hetilap"
DOI: 10.1556/650.2020.31933
Abstract: Összefoglaló. A Gorlin-Goltz-szindróma - más néven naevoid basalsejtes carcinoma szindróma - egy ritka, viszont számos orvosi társszakmát érintő, rendkívül változatos megjelenésű és genetikailag is heterogén betegség. Bár a tudományos kutatások egyik kedvenc területe, az aránylag… read more here.
Keywords: goltz syndrome; disease; genetic aspects; gorlin goltz ... See more keywords
[Gorlin-Goltz Syndrome: Diagnosis and Treatment Options].
Sign Up to like & getrecommendations! Published in 2017 at "Acta medica portuguesa"
DOI: 10.20344/amp.7521
Abstract: 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… read more here.
Keywords: diagnosis treatment; treatment; goltz syndrome; syndrome diagnosis ... See more keywords
A rare case of cardiac fibroma diagnosis in Gorlin-Goltz syndrome with information on management.
Sign Up to like & getrecommendations! Published in 2022 at "Future cardiology"
DOI: 10.2217/fca-2022-0013
Abstract: Gorlin-Goltz syndrome is a rare autosomal dominant disease characterized by odontogenic keratocysts and basal cell carcinoma as well as ophthalmic and neurological implications. The following article presents the case of a 20-year-old female with Gorlin-Goltz… read more here.
Keywords: cardiac fibroma; gorlin goltz; case; goltz syndrome ... See more keywords