Queratocisto odontogênico em maxila: relato de caso

Objetivo: Relatar o processo de diagnóstico e tratamento de um queratocisto odontogênico (QO) em seio maxilar e a sua importância na investigação e diagnóstico de Síndrome de Gorlin-Goltz (SGG). Relato de caso: Paciente do gênero feminino, 20 anos, apresentou-se no serviço de odontologia encaminhada pela equipe de genética médica para investigar a presença de QO para definição de diagnóstico de SGG. Foi realizada radiografia panorâmica e verificou-se a presença de alterações no trabeculado ósseo em tuberosidade maxilar do lado esquerdo. Por isso, foi solicitada a tomografia computadorizada de seios maxilares e encontrou-se uma lesão bem delimitada, ocupando quase completamente o seio maxilar esquerdo em íntimo contato com a raiz do dente 27. Portanto, foi realizada biópsia incisional da lesão, acompanhada da aspiração do conteúdo. Na aspiração foi obtido um conteúdo de característica caseosa sugestivo de queratina. O laudo histopatológico da lesão foi de cisto odontogênico. Com isso, foram realizados os procedimentos de exodontia do dente 27 e a enucleação da lesão em seio maxilar pela equipe da odontologia e da otorrinolaringologia, respectivamente, em centro cirúrgico. O laudo histopatológico confirmou a presença de QO, assim foi possível confirmar o diagnóstico da SGG pela equipe da genética médica. A paciente não apresentou sinais de recidiva e nem de novos QO após 2 anos do procedimento. Considerações finais: A SGG requer atenção odontológica especial, visto a alta taxa de QO nos pacientes com essa síndrome. Exame odontológico minucioso envolvendo exame clínico e exames radiográficos devem ser realizado nas consultas de seguimento.

Objective: To report the process of diagnosis and treatment of an odontogenic keratocyst (OK) in the maxillary sinus and its importance in the investigation and diagnosis of Gorlin-Goltz Syndrome (GGS). Case report: A 20-year-old female patient presented at the Dentistry and Stomatology service, referred by the Medical Genetics team to investigate the presence of OK to define the diagnosis of GGS. Panoramic radiography was performed and the presence of alterations in the bone trabeculae in the maxillary tuberosity on the left side was verified. For this reason, computed tomography of the maxillary sinuses was also requested and a well-defined lesion was found, occupying almost completely the left maxillary sinus in close contact with the root of tooth 27. Therefore, an incisional biopsy of the lesion was performed, accompanied by puncture of the same. In the puncture, a characteristic caseous content suggestive of keratin was obtained. The histopathological report of the lesion was described by the pathologist as an odontogenic cyst. With this, tooth extraction procedures for tooth 27 and enucleation of the lesion in the maxillary sinus were carried out by the dentistry and otorhinolaryngology teams, respectively, in a surgical center. The histopathological report confirmed the presence of OK, so it was possible to confirm the diagnosis of GGS by the medical genetics team. The patient showed no signs of recurrence or new OK after 2 years of the procedure. Final considerations: GGS requires special dental attention, given the high rate of OK in patients with this syndrome. A thorough dental examination involving clinical examination and radiographic examinations should be performed at follow-up visits.

Tratamento de ceratocistos na síndrome de Gorlin Goltz / Diagnosis and treatment of oral keratocysts in Gorlin Goltz Syndrome / Tratamento de ceratocistos na Síndrome de Gorlin Goltz

A Síndrome de Gorlin Goltz apresenta características com comprometimento craniofaciais que incluem carcinomas basocelulares, ceratocístos odontogênicos e fenda labial e/ou palatina. Ceratocísticos odontogênico aparecem durante as primeiras décadas de vida, mais comumente na mandíbula, associados a dentes impactados. O diagnóstico precoce possibilita a cura da lesão, minimiza as deformidades ósseas e pode ser concluído com exames como radiográfico e histopatológico. Relato de caso: Com o objetivo descrever o diagnóstico e analisar as possibilidades de tratamento das manifestações faciais da Síndrome de Gorlin Goltz será relatado um caso clínico de uma paciente infantil. A paciente tem um acompanhamento clínico multidisciplinar com geneticista, oncologista e cirurgião-dentista de 6 anos. Apresentou 5 ceratocisticos odontogênicos, carcinomas basocelulares na região do pescoço, calcificação da foice cerebral, ceratose palmo-plantar e macrocefalia. O tratamento para as lesões císticas foi a enucleação, seguida de osteotomia periférica. O defeito ósseo produzido pela enucleação de cisto mandibular foi enxertado com bloco de osso alógeno do banco de tecidos do INTO-RJ. Conclusão: Constata-se que o Cirurgião-dentista é capacitado para fazer o diagnóstico desta síndrome e encaminhar para o tratamento multidisciplinar. O enxerto alógeno é uma opção adequada de reconstrução de cavidades císticas, beneficiando pacientes do Sistema Único de Saúde... (AU)

Gorlin Goltz Syndrome has features with craniofacial involvement that include basal cell carcinomas, odontogenic keratocysts, and cleft lip and/or palate. Odontogenic keratocysts appear during the first decades of life, most commonly in the mandible, associated with impacted teeth. Early diagnosis enables healing of the lesion, minimizes bone deformities and can be completed with exams such as radiographic and histopathological exams. Case report: In order to describe the diagnosis and analyze the treatment possibilities of the facial manifestations of Gorlin Goltz Syndrome, a clinical case of a child patient will be reported.The patient has a multidisciplinary clinical follow-up with a 6-year geneticist, oncologist and dental surgeon. She had 5 odontogenic keratocystic keratocysts, basal cell carcinomas in the neck region, sickle cerebral calcification, palmoplantar keratosis and macrocephaly. The treatment for cystic lesions was enucleation, followed by peripheral osteotomy. The bone defect produced by the enucleation of a mandibular cyst was grafted with an allogeneic bone block from the tissue bank of INTO-RJ. Conclusion: It is concluded that the dentist is trained to make the diagnosis of this syndrome and refer to multidisciplinary treatment. Allogeneic graft is an appropriate option for the reconstruction of cystic cavities, benefiting patients from the Unified Health System... (AU)

El Síndrome de Gorlin Goltz tiene características con compromiso craneofacial que incluyen carcinomas de células basales, queratoquistes odontogénicos y labio leporino o paladar hendido. Los queratoquistes odontogénicos aparecen durante las primeras décadas de vida, más comúnmente en la mandíbula, asociados con dientes retenidos. El diagnóstico precoz permite la curación de la lesión, minimiza las deformidades óseas y se puede concluir con exámenes como exámenes radiográficos e histopatológicos. Reporte de caso: Con el fin de describir el diagnóstico y analizar las posibilidades de tratamiento de las manifestaciones faciales del Síndrome de Gorlin Goltz, se reportará un caso clínico de un paciente infantil. El paciente tiene un seguimiento clínico multidisciplinario con un genetista, oncólogo y cirujano dentista de 6 años. Presentó 5 queratocísticos odontogénicos, carcinomas basocelulares en la región del cuello, calcificación de la hoz cerebral, queratosis palmoplantar y macrocefalia. El tratamiento de las lesiones quísticas fue la enucleación, seguida de una osteotomía periférica. El defecto óseo producido por la enucleación de un quiste mandibular se injertó con un bloque óseo alogénico del banco de tejidos de INTO-RJ. Conclusión: Parece que el odontólogo está capacitado para realizar el diagnóstico de este síndrome y derivar al tratamiento multidisciplinario. El injerto alogénico es una opción adecuada para la reconstrucción de cavidades quísticas, beneficiando a los pacientes del Sistema Único de Salud... (AU)

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.

Gorlin-Goltz Syndrome: The importance of Clinical Investigation and a Multidisciplinary Approach

ABSTRACT: Gorlin-Goltz Syndrome is a genetic disorder characterized by a series of clinical changes, including the presence of multiple odontogenic keratocysts and nevus basal cell carcinomas. As these lesions involve the maxillofacial region and can evolve to severe sequelae, it is essential that the dental surgeon recognize this pathology, in order to promote a correct investigation and early multidisciplinary diagnosis and treatment. The treatment for the cysts varies according to the lesion's characteristics and location, and therefore, the request for complementary exams is essential. According to literature, the approach varies from conservative to more invasive, and several supporting therapies are mentioned. Thus, this article aims to report a case of a young patient diagnosed with Gorlin-Goltz Syndrome by a dental surgeon, who treated conservatively and interdisciplinarly, and obtained a satisfactory result. In addition, it makes a bibliographic review on this genetic condition, elucidating its therapeutic forms.

RESUMEN: El síndrome de Gorlin-Goltz es un trastorno genético caracterizado por una serie de cambios clínicos, que incluyen la presencia de múltiples queratoquistes odontogénicos y nevus carcinomas basocelulares. Como estas lesiones involucran la región maxilofacial y pueden evolucionar a secuelas severas, es esencial que el cirujano oral conozca esta patología para realizar una investigación correcta y un diagnóstico y tratamiento multidisciplinario temprano. El plan de tratamiento para los quistes varía de acuerdo con las características y la ubicación de la lesión y, por lo tanto, la solicitud de exámenes complementarios es esencial. Según la literatura, el enfoque varía de conservador a más invasivo, y se mencionan varias terapias de apoyo. Por lo tanto, este artículo tiene como objetivo informar un caso de un paciente joven diagnosticado con el síndrome de Gorlin-Goltz por un cirujano dentista, que trató de forma conservadora e interdisciplinaria, y obtuvo un resultado satis- factorio. Además, realiza una revisión bibliográfica sobre esta condición genética, aclarando sus formas terapéuticas.

A de novo mutation in the PORCN gene in a newborn with Goltz syndrome / 中华皮肤科杂志

Objective:To report a newborn with Goltz syndrome and a de novo mutation in the PORCN gene. Methods:Clinical data collected from a newborn with Goltz syndrome were retrospectively analyzed. Peripheral venous blood samples were obtained from the newborn and her parents, genomic DNA was extracted, whole-exome sequencing was performed to screen disease-causing genes in the patient, and Sanger sequencing was conducted to verify the mutant genes.Results:The 7-hour-old female newborn presented with scalp defects, multiple epidermal defects on the face and inner side of both knee joints, deformity of the left auricle, syndactyly of the middle and ring fingers of the right hand as well as the great and second toes of the right foot, and lobster-claw deformity of the left foot. Genetic testing showed that a fragment TCCTTCCA was inserted at position 514-521 in exon 4 of the PORCN gene of the patient (c.514_521dupTCCTTCCA) , resulting in the substitution of serine by proline at amino acid position 175 (p.S175Pfs*14) , followed by translation termination at the 14th codon. This heterozygous mutation was not found in her parents. The patient was diagnosed with Goltz syndrome. Conclusions:There are various phenotypes of Goltz syndrome, and a confirmed diagnosis of Goltz syndrome can be made based on PORCN gene mutations and clinical manifestations. The heterozygous mutation c.514_521dupTCCTTCCA is a novel mutation.

Gorlin Goltz syndrome: a rare case report

Gorlin-Goltz syndrome is uncommon multisystemic disease with an autosomal dominant trait, with complete penetrance and variable expressivity, though sporadic cases have been described. We report a case of 18 years old male patient having features of Gorlin Goltz syndrome. Gorlin-Goltz syndrome is characterized by multiple basal cell nevi or carcinomas, odontogenic keratocysts, palmar and/or plantar pits, calcification of the falx cerebri, and is associated with internal malignancies. It is important to know the major and minor criteria for the diagnosis and early preventive treatment of this syndrome.

Síndrome de Gorlin-Goltz. Diagnóstico molecular, nuevos tratamientos / Gorlin-Goltz syndrome. Molecular diagnosis, new treatments

Introducción: El síndrome de Gorlin-Goltz o síndrome de carcinoma de nevo basocelular es un desorden hereditario autosómico dominante que predispone principalmente a la proliferación de múltiples carcinomas basocelulares, queratoquistes odontogénicos y defectos del desarrollo, causados por la mutación del gen Patched localizado en el cromosoma 9. Presentación del caso: Se reporta un paciente con características de este síndrome, en la clínica de COMF de la UNAM. El diagnóstico fue basado en los estudios clínicos, imagenológicos y moleculares. Conclusiones: El conocimiento de esta enfermedad puede orientarnos a la sospecha diagnóstica de lesión quística o premaligna en forma oportuna, lo que permite prevenir complicaciones y brindar un tratamiento integral para así mejorar la calidad de vida de este tipo de pacientes (AU)

Introduction: Gorlin-Goltz syndrome or cell-based nevus carcinoma syndrome is an autosomal dominant inherited disorder that predisposes mainly to the proliferation of multiple basal cell carcinomas, maxillary keratocysts and developmental defects, caused by the mutation of the Patched gene located on chromosome 9. Case presentation: A patient with specific characteristics compatible with this syndrome was reported in the COMF Department of the UNAM. The diagnosis was based on clinical studies, radiology and genetic studies. Conclusions: Knowledge of this problem can guide us to the diagnostic suspicion in a timely manner, thus preventing complications, and to provide an improved integral treatment of the quality of life of this type of patients (AU)

Queratoquiste odontogenico recurrente en paciente con sindrome de Gorlin-Goltz / Recurrent odontogenic keratocyst in patient with Gorlin-Goltz Syndrome

RESUMEN El Síndrome de Gorlin-Goltz (SGG) es un desorden autosómico dominante, se caracteriza por presentar anomalías esqueléticas, Queratoquistes Odontogénicos (QQOs) múltiples y carcinoma de células basales. Se han realizado estudios comparativos de los QQOs asociados y no asociados al SGG, y se encontró la presencia de mayor número de quistes satélites, proliferaciones sólidas del epitelio, inflamaciones, calcificaciones, más intensa ac-tividad mitótica de las células epiteliales, y mayor recurrencia de los QQOs asociados al SGG. El propósito de este reporte de caso es proporcionar una base objetiva para el manejo terapéutico de los QQOs en pacientes con SGG y una revisión de la literatura científica. Se presenta el caso de una paciente de 63 años, con antecedentes de SGG, sometida a múltiples intervenciones quirúrgicas, incluida exéresis de QQOs en ambos maxilares, que acudió a la consulta nueve años después de su última intervención para un control por la especialidad, donde se evidenció recurrencia de la lesión en maxilar superior derecho, realizándose enucleación, ostectomia periférica y aplicación de solución de Carnoy.

SUMMARY Gorlin-Goltz syndrome (GGS) is an autosomal dominant disorder characterized by skeletal abnormalities, multi-ple Keratocysts Odontogenic (KCOs) and basal cell carcinoma. Comparative studies of the associated KCOs and those not associated with the GGS have been performed, and the presence of a greater number of satellite cysts, solid proliferations of the epithelium, inflammations, calcifications, more intense mitotic activity of the epithelial cells, and greater recurrence of the KCOs associated with the GGS. The purpose of this case report is to provide an objective basis for the therapeutic management of KCOs in patients with GGS and a review of the scientifi c literature. We present the case of a 63-year-old patient, with a history of GGS, who underwent multiple surgical interventions, including exeresis of KCOs in both jaws, who came to the consultation, nine years after her last intervention, for an Odontostomatological check-up, finding KCO recurrent in upper right maxilla, performing enucleation, peripheral ostectomy and application of carnoy solution.

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.

Síndrome de Goltz o Hipoplasia dérmica focal / Goltz Syndrome or focal dermal hypoplasia

RESUMEN Introducción: El síndrome de Goltz o hipoplasia dérmica focal es una enfermedad genética rara del grupo de las displasias ectodérmicas con un mecanismo de herencia dominante ligado al cromosoma X. Objetivo: Describir las características clínicas del síndrome de Goltz, su diagnóstico y tratamiento. Presentación del caso: Paciente femenina de 4 años de edad diagnosticada con síndrome de Goltz. Se valora en equipo multidisciplinario con las especialidades de genética, cirugía maxilofacial, estomatología, dermatología, oftalmología, ortopedia y el servicio de otorrinolaringología. Conclusiones: El síndrome de Goltz se caracteriza principalmente por afectación cutánea; anomalías oculares, dentales, faciales y esqueléticas; afectación del aparato gastrointestinal, urinario, cardiovascular y sistema nervioso central con grado variable de severidad. Su diagnóstico es clínico. La atención interdisciplinaria es fundamental para el adecuado diagnóstico y tratamiento; su pronóstico depende del grado de afectación(AU)

ABSTRACT Introduction: Goltz syndrome also known as focal dermal hypoplasia is a rare genetic disease in the ectodermal dysplasia´s group and with a mechanism of dominant inheritance linked to the X chromosome. Objectives: To describe the clinical characteristics of the Goltz syndrome, its diagnosis and treatment. Case presentation: Case of a 4 year-old female patient diagnosed with Goltz syndrome. She was studied by a multidisciplinary team including Genetics, Maxillofacial Surgery, Stomatology, Dermatology, Ophthalmology, Orthopedics and ORL specialists. Conclusions: Goltz syndrome or focal dermal hypoplasia is mainly characterized by skin affectations; eyes, dental, skeletal, and face anomalies; gastrointestinal tract, urinary, cardiovascular and central nervous systems´ affections with varying degrees of severity. The diagnosis is clinical. A multidisciplinary approach is essential for a proper diagnosis and treatment; and prognosis depends on the grade of severity(AU)

Basal cell nevus syndrome in a 56-year old Filipino female: A case report

Introduction@#Basal cell nevus syndrome (BCNS) (Gorlin-Goltz syndrome or Nevoid basal cell carcinoma syndrome) is a rare inherited multisystem and tumor-predisposing disorder caused by the patched tumor suppressor gene mutations and suppressor of fused gene. Its diagnosis follows a set of criteria based on specific cutaneous features and radiologic findings. Although an autosomal dominant disorder with a high degree of penetrance, BCNS has variable expression making its diagnosis difficult. The limited epidemiologic data among Asians especially in the Philippines hamper early detection or cause frequent misdiagnosis of the condition.@*Case report@#A 56-year-old Filipino female with Fitzpatrick skin type V presented with early onset multiple basal cell carcinomas and bilateral palmoplantar pits. Radiologic investigation reveals odontogenic keratocyst, calcification of the falx cerebri, bridging of the sella turcica, bifid/splayed ribs and vertebral anomalies. The patient exhibits coarse facial features and bilateral cataracts. Cranial computed tomography scan shows cerebrocerebellar atrophy with ventricular dilatation. Management included wide excision of the nodular basal cell carcinomas (BCC), application of 5-flourouracil cream on the superficial BCC and electrodessication and curettage of the smaller lesions. Oral acitretin was also prescribed.@*Conclusion@#This is a case that highlights the approach to diagnosis, clinical features and management of BCNS in a Filipino patient. Since various phenotypic presentations may exist among dark-skinned individuals, early diagnosis poses a challenge among physicians. Epidemiologic and prevalence studies among Filipinos may be done to aid in the diagnosis and early management of this rare genodermatosis.

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.

Hipoplasia dérmica focal (síndrome de Goltz) / Focal dermal hypoplasia (Goltz syndrome)

Resumen: Introducción: La hipoplasia dérmica focal o síndrome de Goltz es una rara genodermatosis de herencia dominante ligada al X, que afecta al tejido proveniente de las placas del ectodermo y del mesodermo. El cuadro clínico se caracteriza por alteraciones cutáneas, oftálmicas, neurológicas, dentales, ungueales, bucales, de tejidos blandos y esqueléticas. El diagnóstico se realiza por los hallazgos clínicos en un individuo con alteraciones ectodérmicas y malformaciones características en las extremidades. El manejo es multidisciplinario y, al igual que el pronóstico, depende de las alteraciones específicas que presente cada paciente. Caso clínico: Se presenta el caso de un recién nacido de sexo femenino, de 15 días de vida, con zonas de alopecia en piel cabelluda, herniación de tejido celular subcutáneo en varias áreas de todos los segmentos corporales, escotadura en ala nasal, hendidura en encía superior, defecto grave de extremidad superior izquierda con rizomelia (acortamiento de segmento proximal) y aplasia de radio, así como ectrodactilia de miembro pélvico derecho. Todos los hallazgos son compatibles con hipoplasia dérmica focal de acuerdo con los criterios diagnósticos. Conclusiones: Se presenta el caso de una paciente recién nacida con síndrome de Goltz.

Abstract: Background: Focal dermal hypoplasia or Goltz syndrome is a rare X-linked dominant inherited genodermatosis, affecting both the ectodermal and mesodermal tissue. Clinical manifestations include skin abnormalities, defects in eyes, teeth, nails, mouth, soft tissues and skeleton. The diagnosis is based on clinical findings and is suspected in individuals with ectodermal abnormalities and characteristic malformations in the extremities. The management is multidisciplinary and, like the prognosis, depends on the specific alterations that each patient presents. Case report: We report the case of a 15-day-old female newborn with alopecic areas on the scalp, herniation of subcutaneous cellular tissue at the lumbar level, nasal wing notch, severe left superior limb defect with rhizomelia (proximal segment shortening) and radio aplasia, as well as right leg ectrodactyly, areas of atrophy compatible with focal dermal hypoplasia according to diagnostic criteria. Conclusions: We present a case of female newborn patient with Goltz syndrome.

Multicystic Lesion in Jaws: A Rare Case Report on Gorlin-Goltz Syndrome

Background and Objectives: Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenickeratocysts (OKC) and basal cell carcinomas, skeletal, dental, ophthalmic and neurological abnormalities.Material and Methods: Thirteen years old male patient came with swelling of left maxilla obliterating buccal vestibule with pus discharge for 1 month. The orthopantomograph and computed tomography scan demonstrated multiple lytic lesions in maxilla and mandible.  Incisional biopsy was suggestive of odontogenickeratocyst (OKC). Besides multiple OKCs; bifid ribs, palmer pits and hypertelorism were present supporting for the diagnosis as Gorlin-Goltz Syndrome.Results: The classical treatment of KCOT with enucleation with curettage or resection would have resulted in significant morbidity. Therefore we first decompressed and then enucleated the cysts.Conclusion: Gorlin-Goltz syndrome is a rare entity and the multiple KCOT can be managed with decompression followed by enucleation.

Carcinoma escamocelular de labio superior en paciente con síndrome nevoide basocelular. Reporte de caso clínico / Upper-Lip Squamous Cell Carcinoma in Patients with Nevoid Basal Cell Carcinoma Syndrome. A Clinical Case Report

Antecedentes: El síndrome de Gorlin-Goltz, o síndrome nevoide de células básales (SNCB), es un trastorno autosómico dominante de baja incidencia. Su etiología se relaciona con una mutación en el gen PTCH y afecta los sistemas esquelético, oftalmológico y neurológico. Su prevalencia es de 1:60.000 y las mutaciones de novo se presentan aproximadamente en un 20 % a 30 % de los casos. Objetivo: Describir el proceso diagnóstico y manejo de un caso de esporádica presentación de una paciente con SNCB con carcinoma escamocelular (CEC) en labio superior. Descripción del caso: Se trató de una mujer de 58 años, quien asistió a consulta odontológica por motivos estéticos y funcionales. Se encontró un CEC (confirmado por inmunohistoquímica) asintomático delimitado en el lado izquierdo del labio superior, con erosiones de color rojizo y costra. No se encontraron linfoadenopatías asociadas. También evidenció fisuras palmoplantares y múltiples carcinomas basocelulares en la espalda y el dorso de la mano izquierda (con antecedentes familiares similares). Radiográficamente, no se observaron queratoquistes mandibulares que usualmente se asocian con el síndrome de Gorlin-Goltz. Conclusiones: Se diagnosticó SNCB en la paciente, pues presentaba dos criterios mayores (dos o más CBC y piqueteado palmoplantar) y dos menores (calcificación laminar de la hoz del cerebro y antecedente de fibromas ováricos). El tratamiento odontológico se planeó y se remitió a la paciente a la institución pertinente para manejar su condición sistémica.

Background: Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder with low incidence. The etiology' is associated with a PTCH gene mutation and affects the skeletal, ophthalmic and neurological systems. The prevalence is 1:60,000 and de novo mutations occur approximately in 20% to 30% of the cases. Objective: To describe the diagnosis and management process for a rare case of a NBCCS patient who developed squamous cell carcinoma (SCC) in the upper lip. Case Description: The patient is a 58 year-old woman who attended to the dental office for aesthetic and functional reasons. An asymptomatic SCC was found (confirmed after immunohistochemical evidence) with defined limits to the left of the upper lip. It showed reddish erosions and some scab. No associated lymphadenopathies were found. The patient had some plantar foot fissures and multiple carcinoma basal cells in the back and in the left hand dorsum (with similar family previous cases). No maxillary keratocyst were observed in the radiographs, notwithstanding they are always associated with the Gorlin-Goltz syndrome. Conclusions: The patient was diagnosed with NBCCS based on two main criteria (two or more SCC lesions and plantar foot fissures) and two mild criteria (laminar calcification in the cerebral falx and family background of ovarian fibromas). A dental treatment was designed, and the patient was referred to another institution for a systemic treatment of her disease.

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.

Síndrome Gorlin-Goltz asociado a fisura labiopalatina bilateral / Gorlin-Goltz syndrome associated with bilateral cleft lip and palate

El síndrome de Gorlin-Goltz corresponde a un trastorno de herencia autosómica dominante. Uno de los criterios menores de este síndrome es la fisura labiopalatina. Si bien esta corresponde a la anomalía congénita maxilofacial más prevalente, un porcentaje variable está asociado a síndromes. Presentar un caso de un paciente con síndrome de Gorlin-Goltz y fisura labiopalatina bilateral asociada constituye el propósito de esta presentación. Se trata de un paciente de 12 años de edad, con diagnóstico de síndrome de Gorlin-Goltz remitido por genetista. Clínicamente presenta anomalías cutáneas, óseas, dentarias, neurológicas, tumores, hoyuelos palmoplantares, prognatismo mandibular y fisura labiopalatina bilateral operada. Es importante reconocer las características asociadas no solo al área craneofacial, sino también a otras partes del cuerpo. Se requiere de la atención de un equipo multidisciplinario en el que el odontólogo también debe participar. La mayoría de las publicaciones se enfocan solo en el manejo quirúrgico de los quistes y no en el de otras secuelas asociadas, como lo es la fisura labiopalatina(AU)

Gorlin-Goltz syndrome is an autosomal dominant inheritance disorder. Cleft lip and palate is one of the minor criteria for this syndrome. Cleft lip and palate is the most prevalent congenital maxillofacial anomaly, and a varying percentage is associated with syndromes. Present the case of a patient with Gorlin-Goltz syndrome and associated bilateral cleft lip and palate. A 12-year-old male patient was referred by the geneticist with a diagnosis of Gorlin-Goltz syndrome. Clinical examination revealed skin, bone, dental and neurological anomalies, as well as tumors, palmoplantar pits, mandibular prognathism and operated bilateral cleft lip and palate. It is important to examine not only features associated with the craniofacial region, but also with other parts of the body. An interdisciplinary team is required of which the odontologist should be a member. Most publications only refer to the surgical management of cysts and not to associated sequels, such as cleft lip and palate(AU)

Síndrome de carcinoma basocelular nevoide con agenesia de cuerpo calloso, mutación en PTCH1 y ausencia de carcinoma basocelular

El síndrome del carcinoma basocelular nevoide (SCBCN) o de Gorlin-Goltz es un raro desorden autosómico dominante con un amplio espectro de manifestaciones clínicas. El signo cardinal es la presencia de múltiples carcinomas basocelulares (CBCs) y su ausencia demora el diagnóstico. Presentamos un adolescente de 14 años con diagnóstico de SCBCN por la presencia de queratoquistes odontogénicos, hiper­telorismo, macrocefalia y agenesia del cuerpo calloso pero sin lesiones cutáneas. La madre, de 43 años, tiene diagnóstico de SCBCN y no presenta CBCs. Para completar el estudio se realizó secuenciación bidireccional y Multiplex Ligation dependent Probe Amplification (MLPA) en sangre periférica para buscar mutaciones en PTCH1, principal gen responsable del síndrome. Se encontró una mutación germinal novel en el paciente y la madre: una duplicación de 25 pb en el exón 10 (c.1375dupl25bp). El análisis bioinformático predijo un corrimiento del marco de lectura y un codón stop prematuro, que produciría una proteína trunca más corta que lo normal. Nuestros resultados sugieren que el estudio clínico y genealógico completo con análisis genético es fundamental para la detección temprana de casos como el presente.

Nevoid Basal Cell Carcinoma Syndrome (NBCCS) or Gorlin-Goltz syndrome is a rare autosomal dominant disorder, mainly due to PTCH1 gene mutations, that comprises a broad spectrum of clinical manifestations. The presence of multiple basal cell carcinomas (BCCs) is a cardinal sign in NBCCS, therefore cases in which BCCs are absent entails a delay in the diagnosis.We present a 14 years old boy with a clinical diagnosis of NBCCS by the presence of odontogenic cysts, hypertelorism, macrocephaly, and corpus callosum agenesia, but with absence of skin lesions. His 43 years old mother has NBCCS diagnosis and no history of BCCs. For a deeper study, PTCH1 mutation screening from peripheral blood samples were performed by both bidirectional sequencing and multiplex ligation dependent probe amplification (MLPA) techniques. The proband and his mother carry 25 pb duplication in exon 10 (c.1375dupl25bp) that causes a reading frameshift with a premature stop codon. Bioinformatics analysis predicted that this mutation results in a truncated protein shorter than normal. Our results suggest that complete clinical and genealogical studies accompanied by genetic analysis are essential in the early detection of the NBCCS cases such the one presented here.

Gorlin-Goltz syndrome: case report and review of literature

Description of a case report of Gorlin-Goltz Syndrome diagnosed in a male newborn who presented increased head circumference and bifid ribs. Mother and grandmother presented typical physical findings of the syndrome, including palmar pits, odontogenic cysts, and history of multiple skin cancer resections. The diagnosis was based on clinical findings of three relatives. A literature review is also presented.