Gorlin-Goltz syndrome in an older black adult. Case Report / Síndrome de Gorlin-Goltz en adulto mayor de raza negra. Reporte de caso

Abstract Introduction: Gorlin-Goltz syndrome (GGS), or basal cell nevus syndrome (BCNS), is a rare genetic disease that induces the development of odontogenic keratocysts, skeletal malformations and neoplasms, especially multiple and recurrent basal cell carcinomas (BCC). This condition is rare in black people, being reported in this population in only 5% of the cases. Case presentation: A 68-year-old black man reported the constant appearance for approximately 4 years of multiple papules and non-pruritic and non-desquamating skin plaques, with hyperpigmented margins, of different sizes that grew gradually in scalp, left lower eyelid, arms, forearms, back, and lower limbs. Histopathological study showed multiple BCC, and imaging studies identified calcifications in the tentorium cerebelli and cerebral falx, as well as images suggestive of odontogenic cysts. Based on his clinical history, histopathologic and imaging findings, and physical examination, he was diagnosed with GGS. Conclusions: This is the first case of GGS in an older black adult reported in Colombia. This case highlights the relevance of reviewing the medical records and performing a thorough physical examination when approaching the patient, as well as doing a comprehensive geriatric assessment, since they are key to diagnose this rare disease and initiate a timely multidisciplinary treatment. This will allow obtaining better outcomes in these patients.

Resumen Introducción. El síndrome de Gorlin-Goltz (SGG), o síndrome del nevo basocelular, es una enfermedad genética rara que induce el desarrollo de queratoquistes odontogénicos, malformaciones esqueléticas y neoplasias, especialmente carcinomas basocelulares (CBC) múltiples y recurrentes. Esta condición es infrecuente en personas de raza negra, reportándose en esta población solo en el 5% de los casos. Presentación del caso. Hombre de 68 años de raza negra, quien reportó la constante aparición, durante aproximadamente 4 años, de múltiples pápulas y placas no pruriginosas ni descamativas, de bordes hiperpigmentados, de diferentes dimensiones y de crecimiento gradual en cuero cabelludo, párpado inferior izquierdo, brazos, antebrazos, dorso y miembros inferiores. El estudio histopatológico evidenció múltiples CBC y en los estudios de imagen se identificaron calcificaciones en el tentorium cerebelli y la hoz del cerebro, así como imágenes sugestivas de quistes odontogénicos. Teniendo en cuenta la historia clínica, los hallazgos histopatológicos e imagenológicos y el examen físico, se diagnosticó con SGG. Conclusiones. Este el primer caso de SGG en un adulto mayor de raza negra reportado en Colombia. En este caso se resalta la importancia de la revisión de la historia clínica y el examen físico al momento de abordar un paciente, así como de una valoración geriátrica integral, ya que son fundamentales para diagnosticar esta rara enfermedad y poder iniciar un manejo multidisciplinario temprano, lo que permitirá obtener mejores resultados en estos pacientes.

Basal cell nevus syndrome with Duchenne muscular dystrophy: a case report / 华西口腔医学杂志

Basal cell nevus syndrome (BCNS), also known as Gorlin-Goltz syndrome, is a rare autosomal dominant genetic disease. It is thought to be caused by a mutation in the PTCH1 gene, and its incidence is 1/57 000 to 1/256 000. The case of a 7-year-old patient with BCNS and Duchenne muscular dystrophy was reported in this paper.

Basal cell nevus syndrome in a 48-year-old male

@#Introduction: Basal cell nevus syndrome is not a common disorder. It has an estimated prevalence of 1 in 57,000-164,000 persons.1,2 It presents as a spectrum of phenotypic abnormalities that include developmental anomalies and postnatal tumors, particularly basal cell carcinomas. More than 100 clinical abnormalities have been reported in patients with basal cell nevus syndrome. The most typical features include: (1) basal cell carcinomas; (2) palmar and/or plantar pits; and (3) odontogenic cysts of the jaw. Early diagnosis of basal cell nevus syndrome is imperative to prevent developmental delay and increased risk for physical impairment. Case report: This case involves a 48-year-old Filipino male who showed multiplewell-defined hyperpigmented gray-black papules and nodules on the scalp, face, trunk, and back. Pertinent family history revealed three family members with multiple biopsy-proven basal cell carcinomas. On physical examination, the patient was noted to have frontal bossing and multiple palmar and plantar pits. Dermoscopy and skin punch biopsy of multiple sites were consistent with basal cell carcinoma, both superficial and nodular subtypes. Additional work-up included a panoramic x-ray of the jaw, which revealed a solitary odontogenic cyst on the left. A plain cranial MRI was also done, revealing thickened and hypointense falx cerebri suggestive of calcifications. Conclusion: Based on the presence of multiple biopsy-proven basal cell carcinomas, multiple palmar and plantar pits, and the solitary odontogenic cyst, the patient was diagnosed with basal cell nevus syndrome. Other findings that aid in the diagnosis are the presence of frontal bossing and calcifications of the falx cerebriin the patient.

Basal cell nevus syndrome: 4 case reports and a literature review / 口腔疾病防治

Objective@#To summarize the incidence, clinical manifestations, diagnosis and treatment of basal cell nevus syndrome and to provide reference for clinical diagnosis and treatment. @*Methods @# Retrospective analysis of 4 cases of basal cell nevus syndrome admitted to the General Hospital of PLA during January 2017 to January 2018 and recent cases reported in the literature.@* Results@#In this study, 1 males and 3 females were included. The patients included a mother and her child. All 4 cases were surgically resected. Pathological reports included all keratocysts of the jaws. There has been no recurrence since follow-up. Through literature summarization and analysis, the clinical manifestations of this syndrome were found to be diverse. Typical clinical manifestations include multiple keratocysts of the jaws, multiple blepharospasms or cancers, deformities of the spine or ribs, increased brachial distance, eye diseases or special face intracranial calcification.@*Conclusion @#Basal cell nevus syndrome is an autosomal dominant genetic disorder. The clinical manifestations are diverse and the diagnosis is often overlooked. The incidence of cysts in the jaws is one of the important clinical manifestations of this syndrome. Early diagnosis and proper treatment improve patient survival and quality of life.

Síndrome de Gorlin Goltz. A propósito de un caso / Gorlin-Goltz Syndrome. Case presentation

RESUMEN Fundamento: El síndrome de Gorlin-Goltz un trastorno hereditario autosómico dominante poco frecuente que se caracteriza por tres anomalías distintivas: predisposición al desarrollo de múltiples neoplasias como el meduloblastoma o el carcinoma basocelular, las depresiones palmoplantares y los quistes odontogénicos de la mandíbula. Objetivo: Describir el caso de una paciente con síndrome de Gorlin-Goltz que representa una situación clínica poco común por su incidencia. Presentación de caso: Paciente femenina de 47 años con síndrome de Gorlin-Goltz que la operaron en varias ocasiones y recibió tratamiento con HeberFERON obteniéndose respuestas completas y parciales al reducir o eliminar el tumor. Conclusiones: El síndrome de Gorlin-Goltz es una enfermedad infrecuente en la práctica médica y no se ha encontrado evidencia suficiente que determine el tratamiento de elección para el manejo del carcinoma basocelular en esta enfermedad, por lo que el HeberFERON puede ser una opción terapéutica en el manejo de estos casos.

ABSTRACT Background: Gorlin-Goltz Syndrome (SGG) is a rare autosomal dominant hereditary disorder characterized by three distinctive abnormalities: predisposition to the development of multiple neoplasms such as medulloblastoma or basal cell carcinoma, palmoplantar depressions and odontogenic jaw drops. Objective: To describe a case with the Gorlin-Goltz syndrome that represents a strange clinical situation for its incidence. Case report: A 47 year-old female patient with a Gorlin syndrome who has been operated on several occasions and received treatment with HeberFeron, obtaining complete and partial responses by reducing or eliminating the tumor. Conclusions: Gorlin-Goltz syndrome is an infrequent disease in medical practice and there is not sufficient evidence to determine the choice treatment for the management of basal cell carcinoma in this disease, so that HeberFERON may be a therapeutic option in the management of these cases.

Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor

We studied a family with Gorlin-Goltz syndrome. The novel mutations of our cases were located on the 21st exon of the PTCH1 gene (c.3450C>G). The father, who received a strategic 56-day vismodegib treatment for disease control, was the first patient with Gorlin syndrome treated with the hedgehog inhibitor in Taiwan. The lesions regressed gradually, with scar formation, and were subsequently removed via a wide excision. Further details are provided below.

Síndrome de carcinoma de células basales nevoides (Síndrome Gorlin): reporte de dos casos y revisión de la literatura / Nevoid basal-cell carcinoma syndrome (Gorlin Syndrome): report of two cases and review of the literature

RESUMEN El síndrome Gorlin (SG) es una condición genética, con patrón de herencia autosómico dominante, con penetrancia completa y expresividad variable, debida a mutaciones germinales en los genes PTCH1 o SUFU, los cuales son componentes de la vía molecular Sonic hedgehog. El SG se caracteriza por la presencia de múltiples carcinomas de células basales nevoides, quistes odontogénicos, calcificación de la hoz del cerebro y lesiones en sacabocado en palmas y plantas. Este es el primer reporte de casos en el Perú sobre pacientes con SG, que cuentan con evaluación y asesoría genética. Presentamos dos casos de SG que cumplen criterios clínicos del síndrome y una revisión de la literatura.

ABSTRACT Gorlin syndrome (GS) is a genetic disorder with an autosomal dominant inheritance pattern, with complete penetrance and variable expressivity. GS is caused by germline mutations in the genes PTCH1 or SUFU, which are components of the Sonic hedgehog molecular pathway. GS is characterized by the presence of multiple nevoid basal cell carcinomas, odontogenic cysts, calcification of the brain sickle, and lesions in the palms and soles. This study is the first to report cases in Peru of patients with GS who underwent genetic evaluation and counseling. We present two GS cases that meet the clinical criteria for the syndrome and review the literature

Dermatoscopy-guided therapy of pigmented basal cell carcinoma with imiquimod

Abstract BACKGROUND: Dermatoscopy is a non-invasive diagnostic tool used to examine skin lesions with an optical magnification. It has been suggested as a useful tool for monitoring therapeutic response in lentigo maligna patients treated with imiquimod. OBJECTIVE: To examine the accuracy of dermatoscopy as a tool to monitor the therapeutic response of pigmented basal cell carcinoma treated with imiquimod. METHOD: The authors designed a prospective study. Patients with pigmented basal cell carcinoma were included and data regarding the dermatoscopy features were collected following the Menzies criteria, prior to initiating the imiquimod treatment. Subsequent dermatoscopic evaluations were performed at weeks 4 and 8, following imiquimod discontinuation. RESULTS: Twenty lesions were included. The most common pigmented dermatoscopy features were large blue-grey ovoid nests (80%), followed by blue-grey globules (50%) and leaf-like areas (30%). No spoke wheel areas were observed. In 17 out of 20 patients, a response was noted during the first evaluation at 4 weeks, while the clearance was noted at the second check-up after 8 weeks. In two patients, the clearance was found at the initial evaluation at 4 weeks, while in one patient, the response remained unchanged. Blue-grey globules were the fastest to exhibit clearance (50% at week 4), followed by leaf-like areas (15%) and large blue-grey ovoid nests (6.25%). CONCLUSION: According to our results, dermatoscopic evaluation enhances the accuracy in the assessment of the clinical response to imiquimod in pigmented basal cell carcinoma.

Syndrome in question: Gorlin-Goltz syndrome

Abstract: The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome.

A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin–Goltz syndrome.

Gorlin–Goltz syndrome (GGS) is an uncommon autosomal dominant inherited disorder which comprises the triad of basal cell carcinomas (BCCs), odontogenic keratocysts, and musculoskeletal malformations. Besides this triad, neurological, ophthalmic, endocrine, and genital manifestations are known to be variable. It is occasionally associated with aggressive BCC and internal malignancies. This report documents a case of GGS with a novel mutation in the PTCH1 gene in an 11‑year‑old child. The clinical, radiographic, histopathologic and molecular findings of this condition, and treatment are described, and a review of GGS was carried out.

The Gorlin-Goltz Syndrome: diagnosis of a case associated with heart disease and type 2 diabetes mellitus / Síndrome de Gorlin-Goltz: diagnóstico de um caso associado à cardiopatia e diabetes mellitus 2

The Gorlin-Goltz syndrome (GGS) is a hereditary, autosomal dominant condition, with high penetrance and variable expressivity, resulting from mutations in the genes PTCH1, PTCH2, or SUFU. The diagnosis is based on the presence of 2 major criteria or a major criterion associated with 2 minor criteria, including multiple basal cell carcinomas, keratocystic odontogenic tumor (KOT), and bifid rib. Other endocrine, neurological, ophthalmologic, genital, respiratory, and cardiovascular alterations are found in the literature, but with variable manifestations. This study reports the case of a patient diagnosed with GGS associated with diastolic congestive heart failure and type 2 diabetes mellitus, who underwent multiple treatments for components of the syndrome. More recently, the patient underwent decompression followed by cystic enucleation of two KOTs in the jaw, oral rehabilitation with removable prosthodontics, cardiological evaluation, and attempted clinical control of endocrine and cardiac problems.

A síndrome de Gorlin-Goltz (SGG) é uma condição hereditária, autossômica dominante, com alta penetrância e expressividade variável, decorrente de mutações nos genes PTCH1, PTCH2 ou SUFU. O diagnóstico é baseado na presença de dois critérios maiores ou um critério maior associado a dois critérios menores, dentre eles múltiplos carcinomas basocelulares, tumor odontogênico ceratocístico (TOC) e costela bífida. Outras alterações endócrinas, neurológicas, oftalmológicas, genitais, respiratórias e cardiovasculares são encontradas na literatura, porém com manifestações variáveis. O objetivo deste trabalho é relatar um caso clínico de uma paciente sistematicamente diagnosticada com SGG associada à insuficiência cardíaca congestiva diastólica e diabetes mellitus 2 submetida a tratamentos seriados das respectivas manifestações sindrômicas. Mais recentemente, à descompressão cística seguida da enucleação de dois TOC em mandíbula, reabilitação oral com prótese total removível, avaliação cardiológica e tentativa de controle clínico das alterações endócrinas e cardíacas.

Treatment of nevoid basal cell carcinoma syndrome: a case report

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is characterized by various embryological deformities and carcinoma formation. It is caused by PTCHI gene mutations and is autosomal dominantly inherited. Some of the main symptoms of NBCCS are multiple basal cell carcinomas, multiple keratocystic odontogenic tumors (KCOTs) of the mandible, hyperkeratosis of the palmar and plantar, skeletal deformity, calcification of the falx cerebri, and facial defomity. Recurrent KCOT is the main symptom of NBCCS and is present in approximately 90% of patients. In NBCCS, KCOTs typically occur in multiples. KCOTs can be detected in patients under the age of 10, and new and recurring cysts develop until approximately the age of 30. The postoperation recurrence rate is approximately 60%. This case report presents a 14-year-old female patient with a chief complaint of a cyst found in the maxilla and mandible. The patient was diagnosed with NBCCS, and following treatment of marsupialization and enucleation, the clinical results were satisfactory.

A Case of Basal Cell Nevus Syndrome Improved with Oral COX-2 Inhibitor / 대한피부과학회지

No abstract available.

Maxillary odontogenic keratocyst: a clinical case report / Ceratocisto odontogênico maxilar: relato de caso clínico

Odontogenic keratocysts are benign lesions of the maxillomandibular region with high growth potential resulting in huge bone destruction. The presence of multiple Odontogenic keratocysts can be associated with the Gorlin-Goltz syndrome. There are two accepted theories of their origin: remnants of dental lamina and proliferation of cells from the basal layer of oral epithelium into the mandible or maxilla. Odontogenic keratocysts are usually asymptomatic and are diagnosed incidentally on routine periapical or panoramic radiographs. The type of treatment is related to their high recurrence rate. The objective of the present study is to report a clinical case of a surgical treatment of a parakeratinized odontogenic keratocyst by enucleation in a fourteen-year old girl. This technique was used since the complete removal of the cyst posed no risks of complications from a dental and/or anatomical point of view. Furthermore, it facilitated the comprehensive anatomohistopathological analysis of the lesion including its clinical, histopathological, and radiological aspects.

Os ceratocistos odontogênicos são apresentados como lesões benignas do complexo maxilomandibular, de grande potencial de crescimento e de grande destruiçäo óssea podendo, quando em múltiplas apresentações, serem associados à "Síndrome de Gorlin", existindo, para tanto, duas teorias para o seu desenvolvimento: uma delas a partir de remanescentes da lâmina dentária, e outra a partir da proliferação de células da camada basal ou do epitélio oral para a mandíbula ou maxila. Os ceratocistos odontogênicos são lesões de caráter geralmente assintomáticos, sendo comumente descobertos em exames radiográficos panorâmicos ou periapicais de rotina. Suas formas de tratamento estão relacionadas ao seu grande potencial recidivante. O presente trabalho tem como objetivo o relato de caso clínico de uma jovem de quatorze anos de idade, em que um ceratocisto odontogênico paraqueratinizado na maxila foi retirado cirurgicamente por enucleação. Tal técnica foi escolhida uma vez que a retirada completa do cisto em questão não representava complicações dos pontos de vista dental e/ou anatômico; e facilitava o estudo integral da lesão com relação ao exame anatomohistopatológico, analisando ainda seus aspectos clínicos, histopatológicos e radiográficos.

Síndrome de Gorlin Goltz e suas implicações odontológicas / Gorlin Goltz Syndrome: Dental Implications

Este estudo tem por objetivo realizar uma revisão de literatura sobre a Síndrome de Gorlin Goltz com foco em sua principal complicação odontológica, o Tumor Odontogênico Ceratocístico. A busca foi feita nas bases de dados Pubmed, Science Direct e Wiley Online Library. Buscou-se artigos clínicos e pesquisas publicados no período de 2010 a 2015 que estivessem relacionados à Síndrome de Gorlin Goltz e ao Tumor Odontogênico Ceratocístico ou que abordassem a inter-relação entre ambos. Além disso, também foram selecionados estudos os quais abrangessem a importância do cirurgião dentista no diagnóstico precoce da morbidade de base a partir de achados do referido tumor. Somente as pesquisas em língua estrangeira, preferencialmente em inglês, foram incluídas nesta revisão. Diante das alterações fisiopatológicas que a Síndrome de Gorlin Goltz causa, compreende-se a relevância do acompanhamento desses pacientes por uma equipe multiprofissional, especialmente pelo cirurgião dentista, uma vez que este é o responsável direto pelo diagnóstico e tratamento da principal morbidade associada à síndrome.

This study aimed to conduct a literature review on the Gorlin Goltz Syndrome, focusing on its main dental complication, the Keratocystic Odontogenic Tumor. The databases PubMed, Science Direct, and Wiley were searched for clinical articles and studies published from 2010 to 2015 on Gorlin Goltz Syndrome and Keratocystic Odontogenic Tumor, or studies that addressed the interrelationship between Gorlin Goltz Syndrome and Keratocystic Odontogenic Tumor. Additionally, the review also selected studies that discussed the importance of dentists for the early diagnosis of the underlying disease based on said tumor-related findings. Only studies in foreign languages, preferably English, were included in this review. The pathophysiological changes caused by Gorlin Goltz Syndrome explain the importance of having a multidisciplinary team, especially a dentist, follow these patients since the dentist is directly responsible for diagnosing and treating the main disease associated with the syndrome.

Conservative surgical approach to aggressive benign odontogenic neoplasm: a report of three cases

Aggressive benign odontogenic neoplasms have substantial potential to grow to an enormous size with resulting bone deformities, and they often invade adjacent tissues and spread beyond their normal clinical and radiographic margins; as such, they have a high rate of recurrence. Historically, management (conservative versus aggressive) on the basis of clinical, radiographic and/or histopathologic characteristics has been controversial. However, recent advances in the understanding of the biological features of these lesions may provide greater evidence of the benefits of conservative management. Three patients with different complaints and final histopathologic diagnoses were enrolled in the study. All three cases were treated by a single operator with similar conservative surgical procedures. During follow-up, the patients had uneventful secondary healing and bone regeneration, less packing time than previously reported, no clinical or radiographic evidence of recurrence and no apparent deformity. The aggressive behavior of these lesions requires long clinical and radiographic follow-up. Conservative surgical management may be an option to reduce recurrence and morbidity and increase the probability of uneventful secondary healing and bone regeneration.

Treatment of Keratocystic Odontogenic Tumors in Nevoid Basal Cell Carcinoma Syndrome

Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Review of Korean Cases / 대한악안면성형재건외과학회지

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal genetic disease caused by a PTCH mutation. The disease is characterized by multiple basal cell carcinomas of the skin, multiple keratocystic odontogenic tumors (KCOTs) in the jaw, palmar and/or plantar pits, bifid ribs, ectopic calcification of the falx cerebri, and skeletal abnormalities. Early diagnosis is difficult in many cases because there may be a number of systemic symptoms. The purpose of this study is to report the case of a 12-year-old girl who was hospitalized with multiple KCOTs that occurred in the upper and lower jaws. Through characteristic clinical symptoms and radiologic findings, she was finally diagnosed as having NBCCS. This study also aims to organize the symptoms often observed in Korea using previously published case reports to provide useful information for the early diagnosis of NBCCS.

Radiological features of familial Gorlin-Goltz syndrome

Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail.

Múltiplos carcinomas basocelulares na região pubiana em uma paciente fototipo IV: relato de caso / Multiple basal cell carcinomas in the pubic area in a patient with skin type IV: case report

O carcinoma basocelular é a neoplasia maligna cutânea mais comum em humanos, localizando-se, frequentemente, em áreas expostas e em indivíduos de pele clara. Relata-se o caso de uma paciente de 62 anos, faiodérmica, com múltiplas lesões de bordas discretamente elevadas, eritemato-acastanhadas na região pubiana, cujo diagnóstico clínico foi carcinoma basocelular pigmentado, confirmado através do estudo histopatológico. A imunoistoquímica das lesões foi negativa para a pesquisa de papiloma vírus.

Basal cell carcinoma is the most common type of malignant cutaneous neoplasm in humans, being more frequently located in exposed areas and in fair-skinned individuals. It is reported the case of a 62-yearold female patient, brown-skinned ,with multiple lesions with edges slightly raised, reddish-brown in the pubic region, whose clinical diagnosis was pigmented basal cell carcinoma, confirmed by histopathology. Immunohistochemistry of the lesions was negative for the detection of papilloma virus.