Research progress of ocular choristoma / 中国医师杂志

Ocular choristoma is composed of ectopic tissues with normal structures. The pathogenesis still remains uncertain. Histopathologically, it is a dense connective tissue mixed with epidermal appendages, smooth muscle cells, mature adipose tissue, lacrimal glands, lymph nodes, skeletal muscle fibers, cartilage and bone. Because of its low incidence, most of published literature are case reports. The clinical manifestations are non-specific and we need to distinguish it from other ocular masses. The choice of surgical resection depends on the ocular symptoms, the effect on appearance, and the need for clinical confirmation. This paper reviews the epidemiology, etiology, pathogenesis, clinical manifestations, diagnosis, differential diagnosis and treatment of ocular choristoma.

Nevu agminado en síndrome de nevus displásico / Agminated nevus in dysplastic nevus syndrome

Los nevus melanocíticos agminados (NMA) son poco reportados en la bibliografía mundial. El nevus agminado (NA), puede presentar varios orígenes, dependiendo de ello pueden desarrollar características displásicas, con riesgo potencial de desarrollar melanoma y entrar a formar parte del Síndrome de Nevus Displásico (SND) de acuerdo a su diagnóstico clínico, dermatoscópico, histológico e historia familiar. El objetivo del presente trabajo es presentar y discutir el caso clínico de un paciente masculino de 26 años de edad sin antecedentes patológicos, evaluado en la Clínica Dermatológica Skinlaser en Quito Ecuador en mayo 2020, que presentó múltiples nevus en la superficie corporal, especialmente en la espalda a nivel posterior e interescapular. El estudio enfatiza la importancia de los controles dermatoscópicos y el seguimiento para hacer el reconocimiento de signos de atipia y cambios que hacen sospechar de malignización(AU)

Agminate melanocytic nevus (AMN) are little reported in the world literature. The agminated nevus (NA) can have various origins, depending on it, they can develop dysplastic characteristics, with a potential risk of developing melanoma and become part of Dysplastic Nevus Syndrome (SND) according to its clinical, dermoscopic, histological and history diagnosis. family. The objective of this work is to present and discuss the clinical case of a 26-year-old male patient with no pathological history, evaluated at the Clinica Dermatologica Skinlaser in Quito Ecuador in May 2020, who presented multiple nevi on the body surface, especially in the back at posterior and interscapular level. The study emphasizes the importance of dermoscopic controls and follow-up are essential to recognize signs of atypia and changes that lead to suspicion of malignancy(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.

Melanoma infantil: diagnóstico precoce pelo mapeamento corporal total em síndrome do nevo displásico / Infantile melanoma: early diagnosis by total body mapping in dysplastic nevus syndrome total em síndrome do nevo displásico

O melanoma é uma neoplasia rara na população pediátrica, sendo ainda mais rara em crianças menores de 10 anos. O mapeamento corporal total constitui método não invasivo e de baixo custo, capaz de aumentar a acurácia diagnóstica na avaliação de lesões pigmentadas, principalmente em pacientes de alto risco. Relatamos um paciente de nove anos de idade com síndrome do nevo displásico, no qual uma lesão apresentou mudança sutil (assimetria de estruturas) no seguimento de seis meses. A exérese da lesão resultou em melanoma com Breslow 1mm e linfonodo-sentinela negativo. O mapeamento corporal total reduz o número de exéreses desnecessárias e permite o diagnóstico de melanomas em estágios iniciais e potencialmente curáveis, especialmente em crianças e pacientes com fatores de risco como síndrome do nevo displásico. O caso foi reportado devido à raridade da neoplasia na faixa etária e para demonstrar a importância da dermatoscopia digital seriada no diagnóstico precoce de melanoma nessa população.

Melanoma is a rare neoplasm in the pediatric population, and it is even rarer in children under 10 years of age. Total body mapping constitutes a low-cost and non-invasive method that increases diagnostic accuracy in evaluating pigmented lesions, especially in high-risk patients. We reported the case of a 9-year boy with dysplastic nevus syndrome, in which one lesion presented a subtle change (asymmetry of structures) within a 6-months follow-up. Its excision resulted in melanoma with a Breslow thickness of 1 mm and a negative sentinel lymph node. Total body mapping reduces the number of unnecessary excisions. It allows diagnosis of melanomas in early and potentially curable stages, especially in children and patients with risk factors such as dysplastic nevus syndrome. We report this case due to the rarity of the neoplasia in this age group and also to demonstrate the importance of sequential digital dermoscopy in early diagnosis of melanoma in this population.

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.

Agminated atypical melanocytic nevus associated with Langerhans cell histiocytosis

Abstract: Agminated nevus refers to the presence of multiple nevi grouped in a circumscribed skin area; it is rarely reported in the literature. This report presents the case of a 10-year-old female patient with a history of Langerhans cell histiocytosis, who presents multiple nevi in the lumbar and inguinal region. In the histopathological study, an atypical melanocytic nevus was reported. Wood's lamp examination discarded the presence of nevus spilus, and the diagnosis of agminated nevus was reached. The association of this type of nevus with Langerhans cell histiocytosis is rare, and only four cases were found reported in the indexed literature. The reason for this association is unknown, thus a new theory about its origin is presented here.

One case of blue rubber bleb nevus syndrome with intestinal intussusception / 中华内分泌外科杂志

Blue rubber bleb nevus syndrome (BRBNS) is a rare disease, which is characterized by multiple hemangiomas of the skin and gastrointestinal tract. We once treated a case with intussusception requiring surgery. The purpose of this article is to improve our understanding of this disease.

One case of blue rubber bleb nevus syndrome with intestinal intussusception / 中华内分泌外科杂志

Blue rubber bleb nevus syndrome(BRBNS)is a rare disease, which is characterized by multiple hemangiomas of the skin and gastrointestinal tract. We once treated a case with intussusception requiring surgery. The purpose of this article is to improve our understanding of this disease.

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.

A case of malignant melanoma after repeated recurrent dysplastic nevi

Dysplastic nevus is common and affects about 10% of the northern European-descendent population. Studies over the past several decades have identified dysplastic nevi as a risk factor for malignant melanoma. Furthermore, in rare cases, they confirmed that dysplastic nevi have progressed to melanoma. Cases in which dysplastic nevi progressed to malignant melanoma in multiple studies are not uncommon. A 35-year-old woman presented with the major symptom of multiple itchy brown nodules (2.0 cm× 1.3 cm) in the left cheek that had first appeared 20 years earlier. Complete excision was performed at the first visit; subsequent biopsy confirmed that they were dysplastic nevi. They recurred three times over 3 years at the same site, all of which were histologically diagnosed as dysplastic nevi. Five years after the final excision, a brownish nodule developed in the left cheek, with others at the left temporal region, right retroauricular region, and left shoulder at the same time. These lesions were histologically diagnosed as malignant melanoma. We experienced a case of malignant melanoma that occurred at the same site after three recurrences of dysplastic nevi. Although rare, the possibility of malignant melanoma should be considered in follow-ups in cases involving repeatedly recurrent dysplastic nevi.

Atypical proliferative nodule in congenital melanocytic nevus with dural invasion: a case report

Here we report a case of a focal atypical proliferative nodule (PN) arising from a congenital melanocytic nevus (CMN). Diagnosis was challenging because it had both benign and malignant clinical features. Unusual histopathology, immunohistochemistry, and intraoperative findings of this atypical PN are discussed. A 5-year-old girl was admitted for a congenital 5× 5 cm sized scalp mass. This hemangioma-like soft mass showed biphasic characteristics such as a slow, gradual, and benign increase in size but worrisome dural invasion with cranial bone defect. We removed the scalp mass with clear resection margins. Interoperatively, we found that the cranial bone defect had already filled. Histopathologic examination showed CMN with focal atypical PN. The nodule showed sharp demarcation and cellular pleomorphism. However, in immunohistochemical study, Ki-67 proliferation index and expression levels of protein S-100 and Melan-A were very low. These were unusual findings of atypical PNs. Despite her worrisome preoperative radiologic features, she showed an indolent clinical course compatible with previously reported biologic behavior. The patient underwent follow-up inspection with magnetic resonance imaging every 6 months for up to 3 years. The nodule appeared to be stationary at the last visit.

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.

Síndrome de schimmelpennig. a propósito de un caso / Schimmelpennig syndrome. report of a case

RESUMEN El síndrome de Schimmelpenning es un desorden neurocutáneo sistémico raro caracterizado por nevo sebáceo extendido, de ubicación primordialmente craneofacial, y compromiso de diferentes órganos neuroectodérmicos. Los principales desórdenes del sistema nervioso central (SNC) comprenden retraso mental, convulsiones y hemimegalencefalia. Otras anomalías asociadas incluyen oculares, osteoesqueléticas, cardiovasculares y genitourinarias. Reportamos el caso de una paciente femenina de 4 meses de edad con lesiones cutáneas y sistémicas compatibles con Syndrome de Schimmelpenning - Feuerstein - Mims y RMN que muestra compromiso del SNC.

SUMMARY Schimmelpenning syndrome is a rare congenital neurocutaneous disorder characterized by extensive nevus sebaceous, mainly craniofacial, and abnormalities in different neuroectodermal organ systems. The most common central nervous system disorders are intellectual disability, seizures and hemimegalencephaly. Other associated anomalies include ocular, skeletal, cardiovascular and genitourinary. We report a four month old female patient with cutaneous and systemic lesions compatible with Schimmelpenning - Feuerstein - Mims syndrome and MRI showing central nervous system compromise. system compromise include seizures, mental retardation and anatomic alterations that include cranial asymmetry, hemimegalencephaly with asymmetric and dilated ventricles, and calcium deposit. We report the case of a four month old female patient with skin and systemic lesions compatible with Schimmelpenning syndrome and MRI showing its central nervous system compromise.

Histogenetic categorization of atypical melanocytic tumor of uncertain biological malignant potential

Abstract: Several reports have demonstrated difficulties and lack of agreement in the histopathological diagnosis of particular melanocytic lesions, with problems in their management. A histogenetic approach to the study of these lesions originated the following classification: 1. superficial atypical proliferation significance; 2. melanocytic tumor of uncertain potential; 3. pigmented epithelioid melanocitoma of uncertain potential; 4. microinvasive radial growth phase of uncertain potential. The terminology remains controversial, reflecting the uncertainty of the diagnosis and the biological potential of these atypical melanocytic lesions.

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.

Review of the treatment for BRBNS by Sirolimus / 中华整形外科杂志

Hemorrhagic anaemia caused by chronic gastrointestinal bleeding is a common complication of BRBNS that has the greatest impact on the patient′s quality of life, even life-threatening. Traditional treatments cannot slow down the overall progress of the disease. The curative effect is limited and has certain limitations. Sirolimus can effectively treat vascular malformations of the soft tissues, and it can control gastrointestinal lesions to correct iron deficiency anemia caused by bleeding, improve quality of life, and can inhibit disease progression and improve prognosis. This new emerging medication may become one of the powerful treatments for BRBNS in the future.

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

Becker's Nevus Syndrome with Ipsilateral Limb Hyperplasia / 대한피부과학회지

No abstract available.

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.