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An uncommon disorder with multiple skeletal anomalies: Gorlin-Goltz syndrome.
Abstract Gorlin-Goltz syndrome is an uncommon disorder transmitted through autosomal dominant inheritance. This syndrome is characterized by multiple odontogenic keratocysts, along with congenital skeletal anomalies and basal cell carcinomas. A 16-year-old girl was admitted with a complaint of swelling on the lower jaw. She had multiple basal cell nevi on both hands. Multiple lytic bone lesions on radiographs were defined as odontogenic keratocysts following the biopsy. The patient was referred to the Department of Physical Medicine and Rehabilitation for detailed musculoskeletal evaluation. Adam's forward bend te...
Source: The Turkish Journal of Pediatrics - July 1, 2014 Category: Pediatrics Authors: Keçeli O, Coskun-Benlidayı İ, Benlidayı ME, Erdoğan Ö Tags: Turk J Pediatr Source Type: research

Laparoscopic treatment of sclerosing stromal tumor of the ovary in a woman with Gorlin-Goltz Syndrome: a case report and review of the literature
This report describes a rare association between Gorlin-Goltz syndrome and the sclerosing stromal tumor of the ovary. Since the ultrasounds and magnetic resonance pattern of this tumor can be similar to those of a malignant neoplasm, a prompt surgical intervention and histological confirmation of diagnosis is mandatory. However this is a benign lesion and thus can be approached with a laparoscopic fertility sparing surgery. Gynecologists should be aware of this possible association, in order to provide an appropriate counseling to these women, and to perform a fertility sparing laparoscopic approach, wherever possible. Tea...
Source: Journal of Minimally Invasive Gynecology - April 11, 2015 Category: OBGYN Source Type: research

Chapter 8 Basal cell nevus syndrome or Gorlin syndrome
Publication date: 2015 Source:Handbook of Clinical Neurology, Volume 132 Author(s): Srikanth Thalakoti, Thomas Geller Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of va...
Source: Handbook of Clinical Neurology - November 18, 2015 Category: Neurology Source Type: research

A cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment
ConclusionsThe clinical features in our cohort were congruent with those previously described in Australia. The QoL is adversely correlated with increased BCC burden.
Source: Internal Medicine Journal - March 1, 2017 Category: Internal Medicine Authors: Aamira J. Huq, Michael Bogwitz, Alexandra Gorelik, Ingrid M. Winship, Susan M. White, Alison H. Trainer Tags: Original Article Source Type: research

Ovarian Fibromas and the Association With Gorlin ’s Syndrome: A Case Report and Review
Ovarian tumors are rare in children and adolescents, with an incidence of approximately 2 per 100,000 girls. Specifically, ovarian fibromas represent only 4% of these tumors. Ovarian fibromas have been associated with a genetic syndrome called Gorlin syndrome, also known as Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome (NBCCS), and basal cell nevus syndrome (BCNS). This is a rare, autosomal-dominant, inherited mutation of the patched (PTCH) tumor-suppressor gene. Gorlin ’s syndrome consists of a constellation of symptoms including musculoskeletal abnormalities, dermatologic findings of multiple basal cell n...
Source: Journal of Pediatric and Adolescent Gynecology - April 1, 2017 Category: OBGYN Authors: Mariam Hanna, Meredith Loveless, Margaret Abraham, Elizabeth Bonagura, Rachael Polis, S. Paige Hertweck Source Type: research

Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment
ConclusionThe clinical features in our cohort were congruent with those previously described in Australia. The QoL is adversely correlated with increased BCC burden.
Source: Internal Medicine Journal - June 4, 2017 Category: Internal Medicine Authors: Aamira J. Huq, Michael Bogwitz, Alexandra Gorelik, Ingrid M. Winship, Susan M. White, Alison H. Trainer Tags: Original Article Source Type: research

Gorlin-Goltz Syndrome: Diagnosis and Treatment Options.
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. PMID: 28865507 [PubMed - in process]
Source: Acta Medica Portuguesa - September 5, 2017 Category: General Medicine Tags: Acta Med Port Source Type: research

Gorlin Syndrome.
Abstract Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the sonic hedgehog signaling pathway. Of particular importance is the PTCH1 gene. The disease is characterized by the development of multiple basal cell carcinomas at young ages. These tumors may present with other skin manifestations such as palmoplantar pits and with extracutaneous manifestations such as odontogenic keratocysts and medulloblastoma. Although the dermatologist may be key for recognizing clinical suspicion of the syndrome, a multidisciplinary team is usually necessary for diagnosis, treatment, and follow-up. Skin t...
Source: Actas Dermo-Sifiliograficas - January 17, 2018 Category: Dermatology Authors: Palacios-Álvarez I, González-Sarmiento R, Fernández-López E Tags: Actas Dermosifiliogr Source Type: research

Severe PTCH1 deficiency in cancer-prone Gorlin patient cells results in intrinsic radiosensitivity
Gorlin syndrome is a typical case of debated hyper-sensitivity to radiation, although it is well-recognized as a cancer-prone disorder. The present data reveal that only Gorlin cells presenting severe deficiency in PTCH1 gene expression exhibited significantly increased cellular radiosensitivity, and that the PATCHED1 protein had a direct role in regulating intrinsic radiosensitivity, after both high and low radiation doses. This may provide a basis for prognostic screens for radiosensitive Gorlin patients with PTCH1 mutations.
Source: International Journal of Radiation Oncology * Biology * Physics - June 1, 2018 Category: Radiology Authors: Adeline Vulin, Melissa Sedkaoui, Sandra Moratille, Nicolas Sevenet, Pascal Soularue, Odile Rigaud, Laure Guibbal, Joshua Dulong, Penny Jeggo, J.F. Deleuze, J érôme Lamartine, Michèle T. Martin Tags: Biology Contribution Source Type: research

Severe PATCHED1 Deficiency in Cancer-Prone Gorlin Patient Cells Results in Intrinsic Radiosensitivity
Gorlin syndrome (or basal-cell nevus syndrome) is a cancer-prone genetic disease in which hypersusceptibility to secondary cancer and tissue reaction after radiation therapy is debated, as is increased radiosensitivity at cellular level. Gorlin syndrome results from heterozygous mutations in the PTCH1 gene for 60% of patients, and we therefore aimed to highlight correlations between intrinsic radiosensitivity and PTCH1 gene expression in fibroblasts from adult patients with Gorlin syndrome.
Source: International Journal of Radiation Oncology * Biology * Physics - June 1, 2018 Category: Radiology Authors: Adeline Vulin, Melissa Sedkaoui, Sandra Moratille, Nicolas Sevenet, Pascal Soularue, Odile Rigaud, Laure Guibbal, Joshua Dulong, Penny Jeggo, Jean-Fran çois Deleuze, Jérôme Lamartine, Michèle T. Martin Tags: Biology Contribution Source Type: research

Gorlin Syndrome Presentation and the Importance of Differential Diagnosis of Skin Cancer: A Case Report.
We describe a 68-year-old female who presented to the dermatology office with a previous history of over 30 BCCs that had been previously biopsied and/or surgically removed. However, the patient had been lost to follow up for several years and had not been seen by a skin specialist. In the interim, she had been misdiagnosed as having eczematous or psoriatic lesions by primary care providers. Patients with Gorlin syndrome are even harder to diagnose as their skin cancers often do not possess the classic features associated with a basal cell or squamous cell carcinoma. When in doubt, and especially if failing topical therapy...
Source: J Pharm Pharm Sci - September 9, 2018 Category: Drugs & Pharmacology Authors: Sangera-Grewal R, Singh Grewal P Tags: J Pharm Pharm Sci Source Type: research

An Update of Gorlin-Goltz Syndrome.
Authors: Hasan A, Akintola D Abstract Gorlin-Goltz syndrome encompasses a variety of clinical signs and symptoms including important oral manifestations which general dental practitioners should be aware of. In light of the risk of malignancy it is important to be aware of this syndrome and recognise the need for early referral for multidisciplinary management. This paper aims to discuss Gorlin-Goltz syndrome, the pathophysiology of the condition and address the wide range of clinical manifestations. The author will pay particular attention to the oral manifestations of the condition and the management of such anom...
Source: Primary dental care : journal of the Faculty of General Dental Practitioners UK - November 17, 2018 Category: Dentistry Tags: Prim Dent J Source Type: research

The recurrence of odontogenic keratocysts in pediatric patients is associated with clinical findings of Gorlin-Goltz Syndrome.
CONCLUSION: Although uncommon in pediatric patients, OKC should be considered a differential diagnosis in cases of osteolytic lesions in gnathic bones. Thus, the periodic assessment of children by dentists and pediatricians is essential to get a correct diagnosis and early treatment to avoid greater mutilation of these patients. PMID: 31880290 [PubMed - as supplied by publisher]
Source: Medicina Oral, Patologia Oral y Cirugia Bucal - December 28, 2019 Category: ENT & OMF Tags: Med Oral Patol Oral Cir Bucal Source Type: research

Gorlin syndrome in a patient with skin type VI.
Abstract Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant disorder that is characterized by multiple basal cell carcinomas developing at a young age, keratocystic odontogenic tumors of the jaw, palmar or plantar pits, calcification of the falx cerebri, and skeletal abnormalities. Nevoid basal cell carcinoma syndrome is caused by mutations in the PTCH1 or SUFU genes. Our patient with Fitzpatrick skin type VI was diagnosed with Gorlin syndrome based on the presentation of multiple major diagnostic characteristics. Although he is 33 years old, he has not developed any ...
Source: Dermatol Online J - November 14, 2019 Category: Dermatology Authors: Poladian K, Difato TC, Anderson KL, Taylor SL Tags: Dermatol Online J Source Type: research

A Gorlin-Goltz-szindr óma genetikai aspektusai.
A Gorlin-Goltz-szindróma genetikai aspektusai. Orv Hetil. 2020 Dec 06;161(49):2072-2077 Authors: Vetró É, Oláh J, Nagy D, Széll M, Piffkó J, Seres L 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 alacsony betegszám, valamint a genotípus és a fenotípus közötti, igen komplex összefüggések miatt a kórképről meglévő ismeret...
Source: Orvosi Hetilap - December 6, 2020 Category: General Medicine Authors: Vetró É, Oláh J, Nagy D, Széll M, Piffkó J, Seres L Tags: Orv Hetil Source Type: research