Enfermedad de Lhermitte-Duclos y síndrome de Cowden. Reporte de un caso / Lhermitte-Duclos Disease and Cowden Syndrome. A Case Report

Presentación del caso. Se trata de una paciente femenina de 45 años con antecedentes de hipertensión arterial y múltiples cirugías por cáncer, entre ellas, cáncer de tiroides, carcinoma de parótida, cáncer de mama y cáncer endometrial. De manera incidental se identificó una lesión en el hemisferio cerebeloso derecho en una tomografía de senos paranasales, que fue confirmada a través de una resonancia magnética cerebral. La lesión presentaba una apariencia estriada, característica de gangliocitoma displásico del cerebelo o enfermedad de Lhermitte-Duclos. Considerando los antecedentes de diversos tipos de cáncer y los criterios de diagnóstico propuestos por el Consorcio Internacional Cowden y la Red Nacional Integral del Cáncer, se estableció el diagnóstico de síndrome de Cowden que había pasado desapercibido hasta el momento. Intervención terapéutica. Posteriormente, la paciente fue hospitalizada debido al crecimiento de una masa metastásica en el hemicuello derecho con afectación del plexo braquial, adenopatías cervicales, infraclaviculares y axilares derechas. Evolución clínica. En la actualidad, se encuentra recibiendo tratamiento paliativo con el objetivo de controlar los síntomas y mejorar su calidad de vida, ya que expresó su negativa a someterse a una intervención quirúrgica de resección tumoral

Case presentation. The report is of a 45-year-old female patient with a history of high blood pressure and multiple surgeries for cancer, including thyroid cancer, parotid carcinoma, breast cancer, and endometrial cancer. Incidentally, a lesion in the right cerebellar hemisphere was identified in a tomography of the paranasal sinuses, which was later confirmed in a brain magnetic resonance. The lesion had a striated appearance, characteristic of dysplastic gangliocytoma of the cerebellum or Lhermitte-Duclos disease. Considering the history of various types of cancer and the diagnostic criteria proposed by the International Cowden Consortium and the National Comprehensive Cancer Network, the diagnosis of Cowden syndrome, which had gone unnoticed until now, was established. Treatment. Subsequently, the patient was hospitalized due to the growth of a metastatic mass in the right hemicollar with involvement of the brachial plexus, cervical, infraclavicular, and right axillary lymph nodes. Outcome. She is receiving palliative treatment to control the symptoms and improve her quality of life, since she expressed her refusal to undergo tumor resection surgery

A case of nevoid basal cell carcinoma syndrome dominated by facial basal cell carcinoma / 中南大学学报(医学版)

Nevus-like basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by the occurrence of multiple maxillofacial keratocysts, basal cell carcinoma, child medulloblastoma, and various skeletal and soft tissue dysplasia. In 2020, a patient with NBCCS dominated by facial basal cell carcinoma was admitted to Xiangya Hospital of Central South University. The patient was an elderly woman. Ten years ago, the systemic mass appeared, especially on the face, but it was not treated. Later, these masses gradually increased in volume and number, and showed invasive properties. The nasal mass was broken and suppurated, seriously affecting the patient's life quality. The patient came to the hospital to improve the symptoms. Staphylococcus aureus and Providencia rettgeri were cultured in the patient's nasal secretions. Nasal sinus enhanced MRI showed that the subcutaneous soft tissue of the right cheek and the anterolateral mucosa of the left nasal cavity were invaded, indicating multiple malignant skin lesions. After admission, local anesthesia was performed and some masses were removed. Pathological examination of the mass showed basal cell carcinoma. After general anesthesia, multiple masses were resected. The postoperative pathological examination showed that multiple basal cell carcinoma invaded the deep dermis near subcutaneous fat layer. Combined with the results of clinical and immunohistochemical examination, the patient was diagnosed as NBCCS. There were no clear tumor thrombus in the vessel and no nerve invasion. No recurrence or new tumor was found after 1 year follow-up. The incidence rate of NBCCS is low and clinical symptoms are different. The patient's life quality is poor and the patient needs long-term individualized treatment.

Hamartomatosis biliar múltiple / Multiple biliary hamartomatosis

Introducción: La hamartomatosis biliar múltiple o también llamada enfermedad de los complejos de von Meyenburg fue descrita por este autor en 1955. Tiene un origen disembriogénico con un curso evolutivo benigno y asintomático, con pruebas funcionales hepáticas normales. Por los estudios de imágenes se puede confirmar el diagnóstico, pero igualmente ante un hígado multinodular pueden diagnosticar una hepatopatía crónica sin precisar su etiología, por lo que es imprescindible el diagnóstico histológico con biopsia hepática translaparoscópica dirigida. No se necesita ningún tratamiento específico y su seguimiento es ecográfico semestral o anual. Objetivo: Presentar el valor de la biopsia hepática dirigida por laparoscopia a las lesiones por hamartomatosis biliar múltiple. Desarrollo: Se presenta un paciente de 53 años con antecedentes de ser un bebedor social con frecuencia semanal. Ingresa por fiebre asociada a una sepsis urinaria, en el que aparece un fortuito hallazgo ecográfico de un hígado multinodular, sin precisar un diagnóstico etiológico por otros estudios de imágenes. Esto motivó a realizarle una laparoscopia con toma de biopsia hepática dirigida a las lesiones observadas. Se confirma el diagnóstico histológico de esta entidad. Conclusiones: Se demostró la importancia y vigencia del valor diagnóstico de la laparoscopia, al igual que la biopsia hepática dirigida para lograr el diagnóstico histológico de certeza en esta entidad(AU)

Introduction: Multiple biliary hamartomatosis or von Meyenburg complex disease was described by this author in 1955. Its origin is dysembryogenic with a benign and asymptomatic evolutionary course, with normal liver function tests. Imaging studies can confirm the diagnosis, but likewise, when it is a multinodular liver, chronic liver disease can be diagnosed without specifying its etiology, which is why it is essential a histological diagnosis with a directed overlaparoscopic liver biopsy. No specific treatment is needed and its follow-up is semi-annual or annual ultrasound. Objective: To present the value of laparoscopically directed liver biopsy for multiple biliary hamartomatosis lesions. Case report: A 53-year-old patient with a history of being a social drinker with a weekly frequency is reported. He was admitted for fever associated with urinary sepsis, in which a fortuitous ultrasound finding of a multinodular liver appeared, without requiring an etiological diagnosis by other imaging studies. This led to a laparoscopy with a liver biopsy aimed at the observed lesions. The histological diagnosis of this entity is confirmed. Conclusions: The importance and validity of the diagnostic value of laparoscopy, as well as directed liver biopsy to achieve a certain histological diagnosis in this entity, was demonstrated(AU)

Síndrome de Bannayan-Riley-Rubalcaba en pediatría / Bannayan-Riley-Rubalcaba syndrome in pediatrics

Resumen Introducción: El síndrome de Bannayan-Riley-Ruvalcaba (SBRR) forma parte de la enfermedad de PTEN tumor-hamartoma, que comprende los síndromes de Cowden, Proteus y similar a Proteus, los cuales presentan un espectro de lesiones cutáneas, mucosas, de mama, tiroides y tracto gastrointestinal, así como polipomatosis hereditaria autosómica dominante. El SBRR se caracteriza por macrocefalia, lipomatosis, hemangiomatosis, pólipos intestinales, lentiginosis genital y discapacidad intelectual. El diagnóstico clínico y de variantes patogénicas en el gen PTEN, detectables en el 60% de los afectados, brinda la oportunidad de un manejo adecuado y de asesoramiento genético. Caso clínico: Se reporta el caso de un paciente en edad escolar que fue enviado a valoración inicial a dermatología por presentar antecedente de macrocefalia al nacimiento, lentiginosis genital, retraso en el desarrollo psicomotor y posteriormente rectorragia secundaria a polipomatosis intestinal. Se le realizó el diagnóstico clínico y molecular de SBRR. Conclusiones: El SBRR es poco frecuente, lo que puede retrasar el diagnóstico para los pacientes y los familiares en riesgo, por lo que es importante conocer sus características clínicas en el paciente pediátrico para lograr un diagnóstico y un manejo oportunos.

Abstract Background: Bannayan-Riley-Ruvalcaba syndrome (BRRS) is part of the PTEN tumor-hamartoma disease, which includes the Cowden, Proteus and Proteus-like syndromes, which present a spectrum of skin, mucosal, breast, thyroid, and gastrointestinal tract lesions, as well as autosomal dominant hereditary polypomatosis. BRRS is characterized by macrocephaly, lipomatosis, hemangiomatosis, intestinal polyps, genital lentiginosis, and intellectual disability. Clinical diagnosis and diagnosis of pathogenic variants in the PTEN gene, detectable in 60% of those affected, provides the opportunity for appropriate management and genetic counseling. Case report: We report the case of a school-age patient who was sent to an initial dermatological evaluation for presenting a history of macrocephaly at birth, genital lentiginosis, delayed psychomotor development and later rectal bleeding secondary to intestinal polypomatosis. A clinical and molecular diagnosis of BRRS was carried out. Conclusions: BRRS is rare, which can delay the diagnosis for patients and relatives at risk, so it is important to know its clinical characteristics in pediatric patients to achieve a timely diagnosis and management.

Lhermitte-Duclos disease: A case report and literature review / 中南大学学报(医学版)

Lhermitte-Duclos disease (LDD) is a type of rare brain tumor located in posterior fossa. A patient with LDD located in the left cerebellum and vermis was admitted by the Department of Neurosurgery, Xiangya Hospital, Central South University. MRI scan showed slightly heterogeneous enhancement at the region close to vermis. The patient underwent partial resection on August 11, 2016 without postoperative chemoradiotherapy. The progress free survival was 11 months and the overall survival was 17 months. What the case reveals is that the partial resection is not beneficial to these patients with LDD as the residual lesion probably recurs in a short term after operation. The pathogenesis, diagnosis and treatment of LDD are explored and summarized in combination with relevant literature.

Cerebellar Dysplastic Gangliocytoma: Case Report

Lhermitte-Duclos disease (LDD), or cerebellar dysplastic gangliocytoma, is a rare type of cerebellar tumor, from unknown origin. Patients can be asymptomatic for several years, but there are usually imprecise neurological signs for long periods.

A Rare WHO Grade I Lesion of the Posterior Fossa with Recurrence Biological Behavior ­ Dysplastic Gangliocytoma of the Cerebellum: Case Report

Dysplastic gangliocytoma of the cerebellum (DGC) or Lhermitte-Duclos Disease is a rare lesion (World Health Organization [WHO] grade I) characterized by thickened folia and replacement of the internal granular layer by abnormal ganglion cells. More commonly, the compromised patients are young adults presenting ataxia, seizures, obstructive hydrocephalus, and increased intracranial pressure. Dysplastic gangliocytoma of the cerebellum is intimately associated with Cowden syndrome, a hereditary disorder caused by a germline mutation in the PTEN tumor suppressor gene on chromosome 10q23. Large neurons of DCG show vesicular nuclei with prominent nucleoli. Expansion of the internal granular layer determines vacuolization of the molecular layer and white matter, which can be related to the bright stripes identified on T2-weighted magnetic resonance imaging. Herein, the authors report a female patient who developed long- time recurrence of DGC and discuss pathological findings and differential diagnosis of this rare cerebellar lesion.

Lhermitte-Duclos Disease and Cowden Syndrome: A Case Report and Literature Review

Lhermitte-Duclos disease (LDD), also known as dysplastic gangliocytoma of the cerebellum, is a rare, usually benign, slow-growing tumor, that commonly affects patients aged 30 to 50 years-old. The manifestations of dysplastic cerebellar gangliocytoma are nonspecific and are related both to the mass effect produced by its growth and to the location of the lesion. Cerebellar symptoms such as ataxia are often present. In 40% of cases, the tumor is associated with Cowden syndrome, which is part of a group ofgenetic disorders called polypoid hamartoma complex. In this case report, the patient presented expansive lesion in the posterior fossa, compatible with LDD, associated with macrocephaly. These findings are consideredmajor criteria for Cowden syndrome. When together, they confirm the diagnoses. To our knowledge, this is the first report of the association of LDD and Cowden syndrome in Brazil.

PTEN Mutation Identified in Patient Diagnosed with Simultaneous Multiple Cancers / Journal of the Korean Cancer Association, 대한암학회지

PTEN hamartoma tumor syndrome is a spectrum of disorders characterized by unique phenotypic features including multiple hamartomas caused by mutations of the tumor suppressor gene PTEN. Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome are representative diseases, and both have several common clinical features and differences. Because PTEN mutations are associated with an increased risk of malignancy including breast, thyroid, endometrial, and renal cancers, cancer surveillance is an important element of disease management. We report a germline mutation of the PTEN (c.723dupT, exon 7) identified in a young woman with a simultaneous occurrence of breast cancer, dermatofibrosarcoma protuberans, and follicular neoplasm. This case suggests that it is critical for clinicians to recognize the phenotypic features associated with these syndromes to accurately diagnose them and provide preventive care.

Síndrome de Cowden / Cowden syndrome

El síndrome de Cowden es una enfermedad hereditaria, de transmisión autosómica dominante, caracterizada por la presencia de múltiples hamartomas y nódulos en la piel y la mucosa oral, junto con anomalías en mamas, tiroides y pólipos en el tracto gastrointestinal, con un riesgo incrementado de tumores malignos. Se reporta un caso de una paciente con diagnóstico de bocio tóxico nodular, y que presentaba -por los antecedentes y estudios realizados- manifestaciones compatibles con el síndrome de Cowden. El síndrome de Cowden es el síndrome hamartomatoso tumoral del phosphatase and tensinhomolog mejor descrito hasta el momento. Los pacientes con él tienen lesiones mucocutáneas características y un elevado riesgo de cáncer de mama, tiroides, endometrio, colorrectal y renal, así como varias manifestaciones benignas como macrocefalia y gangliocitomadisplásico del cerebelo. Es importante el diagnóstico precoz de este síndrome y el seguimiento a largo plazo, dado el alto riesgo de desarrollar tumores malignos(AU)

Cowden syndrome is a hereditary disease, of autosomal dominant transmission, and characterized by the presence of multiple hamartomas and nodules in the skin and oral mucosa, and also with abnormalities in the breast, thyroid, and polyps in the gastrointestinal tract with an increased risk of malignant tumors. It is reported a case of a patient with a diagnosis of toxic nodular goiter, and who presented -due to the antecedents and studies carried out- manifestations compatible with the Cowden syndrome. Cowden syndrome is the hamartomatous tumor syndrome of phosphatase and tensin homolog which is better described so far. Patients having it present characteristic mucocutaneous lesions and a high risk of breast, thyroid, endometrial, colorectal and renal cancers, as well as several benign manifestations such as macrocephaly and gangliocytoma of the cerebellum. Early diagnosis of this syndrome and long-term follow-up are important given the high risk of developing malignant tumors(AU)

Synchronous Bilateral Breast Carcinoma in a Patient with Cowden Syndrome with PTEN Mutation: A Case Report

Cowden syndrome (CS), also known as multiple hamartomas syndrome, is a rare hereditary autosomal dominant disorder caused by a germline mutation in the phosphatase and tensin homolog (PTEN) gene mapped on chromosome 10. The clinical features of CS are variable, primarily presenting as mucocutaneous lesions (99%). A mucocutaneous lesion, such as trichilemmoma of the face or keratosis of the extremities, is an important diagnostic marker for CS. CS has been reported to increase the incidence of benign and malignant neoplasms in the breast, thyroid, and gastrointestinal tract. The risk of developing malignancy in individuals with CS is up to 10 times higher than general population throughout an entire life time.

Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report / 대한소아소화기영양학회지

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay. Diagnosing this syndrome is important, because it may represent the pediatric phenotype of Cowden syndrome, in which there is an increased risk for malignant tumors in children. Until now, the prevalence of BRRS is unknown. Several dozen cases have been reported in the medical literature, but no case has been reported in Korea. Here we report a case of a 19-year-old girl who was diagnosed with BRRS because of macrocephaly, intellectual disability, and intestinal polyps. Her mother had similar findings and a PTEN mutation. Neither patient had mutations detected by conventional mutation-detection techniques, but a PTEN gene deletion was demonstrated by chromosomal microarray analysis.

A Case of Cowden Syndrome Associated with Tumor of the Follicular Infundibulum / 대한피부과학회지

Cowden Syndrome (CS) is a rare genodermatosis of autosomal-dominant inheritance, with variable expressivity and multiple types of hamartomas. The most consistent features of CS are small wart-like papillomatous papules on the face, hands, and mouth. A 31-year-old woman presented with a history of pearly papules on the face, hand, and foot for several years. The lesions were initially diagnosed as warts, and treated accordingly, but they did not subside. There was a history of endometrial cancer, breast cancer, and thyroid nodule, and her father had a history of thyroid cancer. A biopsy specimen from the facial papule showed plate-like growth of anastomosing epithelial cords, extending parallel to the epidermis. It was diagnosed as a tumor of the follicular infundibulum (TFI). The patient refused further treatment. Here, we report a rare case of CS presenting with TFI.

The importance of the dentist in the diagnosis of cowden syndrome – Case report

Cowden Syndrome is an autosomal dominant disorder characterized by the development of several hamartomas in a variety of tissues, including the skin, gastrointestinal tract, adipose tissue, and bone and connective tissues. This syndrome is associated with a high risk of developing malignancies, especially breast, thyroid and endometrium cancers. This report presents a case of a 53-year-old patient who sought assistance at the Dentistry Department of the University Hospital of Brasilia (HUB) to receive basic dental treatment. The current and past medical history and oral and facial manifestations led to the diagnosis of Cowden syndrome. This case report aims to highlight the importance of a dental surgeon in the diagnosis of this syndrome, based on the observation of oral manifestations and medical history.

A Síndrome de Cowden é uma desordem hereditária autossômica dominante, caracterizada pelo desenvolvimento de diversos hamartomas em vários tipos de tecidos, incluindo a epiderme, trato gastrointestinal, tecido adiposo e tecidos ósseo e conjuntivo. Essa síndrome é associada a um risco elevado de desenvolvimento de malignidades, especialmente câncer de mama, tireoide e endométrio. Esse relato apresenta o caso de um paciente de 53 anos de idade que procurou o Departamento de Odontologia do Hospital Universitário de Brasília (HUB) para tratamento dental básico. História médica atual e passada e manifestações orais e faciais levaram ao diagnóstico de síndrome de Cowden. Este relato de caso apresenta a importância do cirurgião-dentista no diagnóstico desta síndrome, com base na observação das manifestações orais e história médica.

Complejo Esclerosis Tuberosa: diagnóstico en la edad adulta / Tuberous sclerosis complex diagnosed during adulthood

El complejo esclerosis tuberosa es una genodermatosis de herencia autosómico dominante, producido por mutaciones en dos genes supresores tumorales llamados TSC1 y TSC2. Se caracteriza por el desarrollo de múltiples hamartomas en distintos órganos de la economía, entre ellos la piel. El diagnóstico es clínico, pero puede verse demorado debido a la variedad fenotípica entre pacientes, incluso dentro de un mismo grupo familiar, ya que muchas veces las manifestaciones de la enfermedad son sutiles. Se presenta un caso clínico diagnosticado en la edad adulta, donde los angiofibromas faciales alertaron sobre esta condición. Posteriormente se sumaron otros signos dermatológicos y sistémicos que permitieron confirmarla...

Síndromes lentiginosos familiares / Family lentiginous syndromes

Los síndromes lentiginosos familiares (SLF)involucran un amplio espectro fenotípico, que abarcadesde una predisposiciónhereditaria a desarrollar lentigos sinenfermedad sistémica hasta un riesgo incrementado en la formación de hamartomas, hiperplasias y otras neoplasias.El prototipo de SLF es el síndrome de Peutz-Jeghers, pero también se incluyen dentro de este grupo de patologías el complejo de Carney, el síndrome LEOPARD, el síndrome de Bannayan-Riley-Ruvalcaba, la enfermedad de Cowden, el síndrome de Laugier-Hunziker, la disección arterial con lentiginosis y las lentiginosis benignas (lentiginosis unilateral parcial y centrofacial).La presencia de lentigos es uno de los hallazgos semiológicos más prominentes en estos cuadros y probablemente, más que una característica clínica asociada, sea el reflejo de la convergencia entre vías de señalización de importancia crucial para la embriogénesis, la diferenciación de la cresta neural, el crecimiento de los órganos diana y el funcionamiento de una amplia gama de tejidos.En el presente trabajo se realiza una descripción detallada de cada uno de los SLF, incluyendo el mecanismo molecular involucrado, las manifestaciones clínicas, la metodología diagnóstica, el seguimiento y el tratamiento.

Familial lentiginosis syndromes involve a broad phenotypic spectrum that includesfrom hereditary predisposition to presentlentigines without systemic disease to the increased risk of hamartomas, hyperplasia and other malignancies development.The prototype is Peutz-Jeghers syndrome, but Carney complex, LEOPARD syndrome, Bannayan-Riley-Ruvalcaba syndrome, Cowden's disease, Laugier-Hunziker syndrome, arterial dissection with lentigines and benign lentiginosis (partial and unilateral centrofaciallentigines) are also included in this group.The presence of lentigines is the most relevant finding and probably more than a clinical feature associated represents a reflection of the convergence of crucial signaling pathways that are important to embryogenesis, differentiation of the neural crest, target organs growth and funcional of a wide range of tissues.In this paper we perform a detailed description of these syndromes, including the molecular mechanisms involved, clinical manifestationsdiagnostic procedures, monitoring, and treatment.

Storiform collagenoma: case report / Colagenoma estoriforme: relato de caso

Storiform collagenoma is a rare tumor, which originates from the proliferation of fibroblasts that show increased production of type-I collagen. It is usually found in the face, neck and extremities, but it can also appear in the trunk, scalp and, less frequently, in the oral mucosa and the nail bed. It affects both sexes, with a slight female predominance. It may be solitary or multiple, the latter being an important marker for Cowden syndrome. It presents as a painless, solid nodular tumor that is slow-growing. It must be considered in the differential diagnosis of other well-circumscribed skin lesions, such as dermatofibroma, pleomorphic fibroma, sclerotic lipoma, fibrolipoma, giant cell collagenoma, benign fibrous histiocytoma, intradermal Spitz nevus and giant cell angiohistiocytoma.

O colagenoma estoriforme é um tumor raro originado a partir da proliferação de fibroblastos com produção aumentada de colágeno tipo I. É encontrado mais frequentemente na face, pescoço e extremidades, podendo aparecer no tronco, couro cabeludo e, raramente, na mucosa oral e leito subungueal. Afeta ambos os gêneros, com discreta predominância em mulheres. Pode ser solitário ou múltiplo, sendo que, neste caso, é um importante indicador da presença de síndrome de Cowden. Apresenta-se como tumor sólido, nodular, de crescimento lento e indolor. Deve constar como diagnóstico diferencial de tumores cutâneos bem delimitados, como dermatofibroma, fibroma pleomórfico, lipoma esclerótico, fibrolipoma, colagenoma de células gigantes, histiocitoma fibroso benigno, nevo de Spitz intradérmico e angioistiocitoma de células gigantes.

Syndrome In Question

The authors describe a case of Cowden´s syndrome in a female patient with classic cutaneous lesions, plus papillomatous lesions in the gastrointestinal tract and a previous history of thyroid carcinoma. Mucocutaneous lesions occur in 90% of Cowden's syndrome cases and are characterized by facial trichilemmomas, oral mucosal papillomas and benign acral keratoses. Sites of extracutaneous involvement include: the thyroid, gastrointestinal tract, breast and endometrial tissue. There is risk of malignancies in these organs and they need to be monitored with imaging tests. The early diagnosis of the syndrome by a dermatologist through mucocutaneous lesions enables the investigation and diagnosis of extracutaneous involvement. .

Síndrome de Proteus: relato de casos / Proteus Syndrome: case reports

INTRODUÇÃO: A síndrome de Proteus é uma doença complexa e rara, classificada nos grupo das hamartoses. Foi primeiramente descrita em dois pacientes, em 1979, por Cohen e Hayden. Existe dificuldade no diagnóstico, sendo comum a confusão com síndromes de Klippel-Trenaunay-Weber, neurofibromatose ou Stuge-Weber. Apresentamos dois casos tratados no Serviço de Cirurgia Plástica e Reparadora da Universidade Federal do Paraná. MÉTODO: Paciente masculino (caso 1), que chegou ao serviço aos 6 anos de idade, tendo como principais apresentações lipomatoses e assimetrias. A segunda paciente (caso 2) deu entrada no serviço com 20 anos de idade e diagnóstico de síndrome de Klippel-Trenaunay-Weber, que posteriormente mostrou se tratar de síndrome de Proteus. CONCLUSÃO: A hipótese etiológica mais aceita para a doença é genética. Acredita-se que exista mosaicismo somático e que a doença seja letal no estado não mosaico. Morte prematura é bastante frequente. Entretanto, a sequela mais comum é a ocorrência de tumores incomuns. O cuidado dos pacientes portadores da síndrome é um desafio devido às suas consequências médicas e psicossociais.

INTRODUCTION: Proteus syndrome is a complex and rare disorder classified as a hamartomatous disease. It was first described in two patients in 1979, by Cohen and Hayden. Proteus syndrome is difficult to diagnose, and is often confused with Klippel-Trenaunay-Weber syndrome, neurofibromatosis, or Sturge-Weber syndrome. In this study we describe two patients who were treated at the Plastic and Reconstructive Surgery Service of the Federal University of Paraná. METHOD: A 6-year-old male patient (case 1) presented to the Service with lipomatosis and asymmetry, as the primary findings. A 20-year-old (case 2) was admitted to the Service with a diagnosis of Klippel-Trenaunay-Weber syndrome, which later was shown to be Proteus syndrome. CONCLUSION: The etiological hypothesis that is most accepted for this disease is genetic. It is believed that somatic mosaicism may occur during pathogenesis, which can be lethal in the mosaic state. Premature death is common. However, the most common sequelae are the occurrence of unusual tumors. The care of patients with this syndrome is a challenge due to medical and psychosocial consequences.