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Meningothelial Hamartoma of the Scalp in a Child With Gorlin Syndrome
In this report, we describe the case of a 3-year-old boy with Gorlin syndrome who presented with a congenital scalp lesion. Histologic examination revealed scattered islands of meningothelial cells in a background of dense fibrous and vascular tissue, in keeping with meningothelial hamartoma of the scalp. The differential diagnoses of congenital scalp lesions and the association between Gorlin syndrome and meningothelial hamartoma of the scalp are discussed.
Source: The American Journal of Dermatopathology - March 24, 2022 Category: Pathology Tags: Extraordinary Case Report Source Type: research

< em > PTCH1 < /em > mutant small cell glioblastoma in a patient with Gorlin syndrome: A case report
Oncol Lett. 2022 Jul 27;24(3):326. doi: 10.3892/ol.2022.13446. eCollection 2022 Sep.ABSTRACTGorlin syndrome or nevoid basal cell carcinoma syndrome is a rare genetic disease characterized by predisposition to congenital defects, basal cell carcinomas and medulloblastoma. The syndrome results from a heritable mutation in PATCHED1 (PTCH1), causing constitutive activation of the Hedgehog pathway. The present study described a patient with Gorlin syndrome who presented early in life with characteristic basal cell carcinomas and later developed a small cell glioblastoma (GBM), World Health Organization grade IV, associated with...
Source: Oncology Letters - August 11, 2022 Category: Cancer & Oncology Authors: John T Dorsey Ryan T Mott Christopher M Lack Nicholas Britt Shakti H Ramkissoon Bonny B Morris Annette Carter Alisha T Detroye Michael Chan Stephen Tatter Glenn J Lesser Source Type: research

Molecular evidence of type 2 mosaicism in Gorlin syndrome.
This article is protected by copyright. All rights reserved. PMID: 23746055 [PubMed - as supplied by publisher]
Source: The British Journal of Dermatology - June 8, 2013 Category: Dermatology Authors: Torrelo A, Hernández-Martín A, Bueno E, Colmenero I, Rivera I, Requena L, Happle R, González-Sarmiento R Tags: Br J Dermatol Source Type: research

Deficient expression of aldehyde dehydrogenase 1A1 is consistent with increased sensitivity of Gorlin syndrome patients to radiation carcinogenesis
Human phenotypes that are highly susceptible to radiation carcinogenesis have been identified. Sensitive phenotypes often display robust regulation of molecular features that modify biological response, which can facilitate identification of the pathways/networks that contribute to pathophysiological outcomes. Here we interrogate primary dermal fibroblasts isolated from Gorlin syndrome patients (GDFs), who display a pronounced inducible tumorigenic response to radiation, in comparison to normal human dermal fibroblasts (NHDFs). Our approach exploits newly developed thiol reactive probes to define changes in protein thiol p...
Source: Molecular Carcinogenesis - November 29, 2013 Category: Molecular Biology Authors: Aaron T. Wright, Thierry Magnaldo, Ryan L. Sontag, Lindsey N. Anderson, Natalie C. Sadler, Paul D. Piehowski, Yannick Gache, Thomas J. Weber Tags: Research Article Source Type: research

Gorlin syndrome in the paediatric age.
CONCLUSIONS. In GS there is an increase in the likelihood of developing basal cell carcinomas and strict dermatological monitoring is necessary. A clinical neurological follow-up and also magnetic resonance imaging scans are needed for an early diagnosis of intracranial tumours, especially in the case of medulloblastomas. Odontogenic keratocysts, other skin disorders, and cardiac and ovarian fibromas are characteristic, as are skeletal abnormalities, which require regular clinical and neuroimaging controls and treatment if needed, but radiation must be avoided. GS is a rare disorder, but it must be suspected in the presenc...
Source: Revista de Neurologia - April 1, 2014 Category: Neurology Authors: Roncales-Samanes P, Pena-Segura JL, Fernando-Martinez R, Fuertes-Rodrigo C, Garcia-Oguiza A, Lopez-Pison J Tags: Rev Neurol Source Type: research

A case of gorlin-goltz syndrome presented with psychiatric features.
We report a case of a 34-year-old male who presented with an acute onset of pleomorphic psychiatric features. Upon examination we later diagnosed him with Gorlin-Goltz syndrome based on clinical and radiological findings that are characteristic for this rare autosomal dominant syndrome. His psychiatric manifestations included irritability, aggressive behavior, labile mood, hallucinations, paranoid delusions, and transient cognitive impairment. His past history indicated surgical excision of pigmented lesion in the left lower eyelid which turned out to be a basal cell carcinoma. His past visits to dermatology clinics indica...
Source: Behavioural Neurology - May 9, 2014 Category: Neurology Authors: Mufaddel A, Alsabousi M, Salih B, Alhassani G, Osman OT Tags: Behav Neurol Source Type: research

Early-onset acral basal cell carcinomas in Gorlin syndrome.
This article is protected by copyright. All rights reserved. PMID: 24837096 [PubMed - as supplied by publisher]
Source: The British Journal of Dermatology - May 16, 2014 Category: Dermatology Authors: Torrelo A, Vicente A, Navarro L, Planaguma M, Bueno E, González-Sarmiento R, Hernández-Martín A, Noguera-Morel L, Requena L, Colmenero I, Parareda A, González-Enseñat MA, Haple R Tags: Br J Dermatol Source Type: research

A Meier-Gorlin syndrome mutation in a conserved C-terminal helix of Orc6 impedes origin recognition complex formation
In eukaryotes, DNA replication requires the origin recognition complex (ORC), a six-subunit assembly that promotes replisome formation on chromosomal origins. Despite extant homology between certain subunits, the degree of structural and organizational overlap between budding yeast and metazoan ORC has been unclear. Using 3D electron microscopy, we determined the subunit organization of metazoan ORC, revealing that it adopts a global architecture very similar to the budding yeast complex. Bioinformatic analysis extends this conservation to Orc6, a subunit of somewhat enigmatic function. Unexpectedly, a mutation in the Orc6...
Source: eLife - October 8, 2013 Category: Biomedical Science Authors: Bleichert, F., Balasov, M., Chesnokov, I., Nogales, E., Botchan, M. R., Berger, J. M. Tags: Biophysics and structural biology Source Type: research

Case report on multiple keratocystic odontogenic tumors of jaws: Comparison of a non-syndromic case versus a case of Gorlin Goltz Syndrome
Publication date: October 2014 Source:Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology, Volume 26, Issue 4 Author(s): Priya Jeyaraj , Nitesh Naresh , V. Srinivas The presence of multiple Keratocystic odontogenic tumors (KCOTs) of the jaws in a patient must alert a clinician as to the possibility of a syndromic condition. The Gorlin Goltz syndrome (GGS), otherwise known as the Nevoid basal cell carcinoma (NBCC) syndrome, and as the Jaw cyst-Basal cell Naevus-Bifid rib syndrome is one such possibility, which is typically characterized by a classical triad as established by Gorlin and Goltz in 1960, compri...
Source: Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology - November 13, 2014 Category: ENT & OMF Source Type: research

Targeted therapy for hereditary cancer syndromes: neurofibromatosis type 1, neurofibromatosis type 2, and Gorlin syndrome.
Authors: Agarwal R, Liebe S, Turski ML, Vidwans SJ, Janku F, Garrido-Laguna I, Munoz J, Schwab R, Rodon J, Kurzrock R, Subbiah V, Pan-Cancer Working Group Abstract Hereditary cancer syndromes are well known in the oncology community, typically affecting children, adolescents, and young adults and thereby resulting in great cumulative morbidity and mortality. These syndromes often lag behind their de novo counterparts in the development of approved novel treatment options due to their rarity in the general population. Recent work has allowed the identification of molecular aberrations and associated targeted therapi...
Source: Discovery Medicine - January 1, 2015 Category: Research Tags: Discov Med Source Type: research

Gorlin-Goltz Syndrome: Maxillofacial and Histopathological Features in Three Clinical Cases From Two Families
In this study, the clinical and histopathological presentation described three cases from two families with Gorlin-Goltz syndrome.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - February 6, 2015 Category: ENT & OMF Authors: Aydin Keskinruzgar, Mehmet Demirkol, Suna Erkilic, Mutan Hamdi Aras, Kemal Bakir Source Type: research

Surgical Management of Gorlin Syndrome: A 4-Decade Experience Using Local Excision Technique
We present a female patient who has been successfully treated using local surgical excision and diligent skin surveillance for more than 4 decades, demonstrating that simple local incision is an efficacious and reasonable surgical alternative that may circumvent the specialization and expense of Mohs technique.
Source: Annals of Plastic Surgery - March 10, 2015 Category: Cosmetic Surgery Tags: Reconstructive Surgery Source Type: research

The Early History of Odontogenic Ghost Cell Lesions: From Thoma to Gorlin
Abstract To reappraise the early history of odontogenic ghost cell lesions (OGCL), the extensive world literature published from 1838 to 1962 was reviewed. In light of the long history of OGCL, the term “calcifying epithelioma of Malherbe” first appeared in a 1931 French report, and the term “ghost cells” had its origin in two American seminal articles by Thoma and Goldman in 1946. Although Gorlin et al. coined the term “calcifying odontogenic cyst” (COC) in 1962, this type of cyst was initially reported three decades earlier by Rywkind in Russia, and almost concurrently by Blood good in the United St...
Source: Head and Neck Pathology - March 1, 2015 Category: Pathology Source Type: research