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.

Síndrome de Cowden: presentación de un caso infrecuente / Cowden syndrome: Presentation of an infrequent case

El síndrome de Cowden es una enfermedad hereditaria, de transmisión autosómica dominante, caracterizada por la presencia de múltiples hamartomas y nódulos en piel y mucosa oral, junto con anomalías en mama, tiroides y pólipos en el tracto gastrointestinal, tendiendo a malignizarse sobre todo en mama y tiroides. El diagnóstico precoz a partir de las lesiones en piel y alteraciones digestivas pueden redirigir el estudio buscando malignidades en tiroides y en caso que sea una fémina en mama. Se presenta un caso clínico que debuta por trastornos digestivos que se interpretan como un sangramiento digestivo alto, al realizar la endoscopia se observan múltiples pólipos duodenales que junto a las alteraciones de la piel hacen el diagnóstico. La presencia de pápulas faciales cutáneas y la papilomatosis de la mucosa oral son los criterios clínicos mayores para establecer el diagnóstico del síndrome de Cowden debiendo alertar al clínico ante la posibilidad de otras lesiones neoplásicas, a veces ocultas, sobre todo en mama, tiroides y tubo digestivo con carácter maligno(AU)

Cowden syndrome is an inherited disease, of dominant auto somatic transmission, characterized by the presence of multiple hamartomas and nodules in skin and oral mucosa, together with anomalies in breasts and thyroids, and polyps in the gastrointestinal tract; they tend to become malignant, above all in breast and thyroids. The precocious diagnosis after finding skin lesions and digestive disturbances should redirect the study, looking for malignancy in thyroids and, in cases of women patients, in breast. We presented a clinical case debuting with digestive disturbances interpreted as upper digestive bleeding. During the endoscopy, several duodenal polyps were observed that together with skin disturbances led to the diagnosis. The presence of skin facial papules and the oral mucosa papillomatosis are the bigger clinical criteria to stablish the Cowden syndrome diagnosis; they should raise the clinician alert toward the possibility of other neoplastic lesions, sometimes hidden, especially in the breast, thyroids and alimentary canal, with malignant character(AU)

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.

Pólipos del colon y recto / Polyps of colon and rectum

Polyp is a descriptive term used with reference to any mass of tisue that projects outward from the normal surface of th gastrointestinal tract. Morson and col. classified this disorder in 1962 in two categories: non-neoplasic (hamartomas) and neoplasic (tubular, villous and mixed). At preent, they are classified between polypoid formations termed serrated polyps, out of whom some can be assigned as potentially malignant. The author of this report describe successively the foloowing conditions: mlignant colorectal polyps, are those presenting an invasive carcinoma, that is with penetration through the muscularis mucosae, involving the regional lymph nodes. Other types: intestinal polyposis, familial adenomatous polyposis Turcot syndrome (malingnant tumors of the central nervous system associated with familial polyposis of the colon) juvenile polyposis; Cowden disease: described since the disease suffered by the patient Rachel Cowden (also termed as multiple hamartomas syndrome) hereditary and preneoplasic with autosomic and dominant transmission, Peutz-Jeghers syndrome: hereditary disease with autonomic and dominant transmission, characterized by a harmatous gastrointestinal polyposis with melanin pigmentation of the skin, and melanin spots of the bucal mucous membrane. Bleeding and anemia are frequent complications. Syndrome of De Ruvalcalva-Myre-Smith: associates hamartosus polyposis juvenile and other disorders as macrocephalia, psychomotor madurative delay and pigmentary changes of the genitalia, and Cronkhite-Canada syndrome, a generalized gastrointestinal polyposis, even those considered benign, can suffer by different causes, a malignant transformation. The author also refers the surgical manament, adenomas and malignant transformation and the development of carcinogenesis. The genetic of adenomas and colerectal cancer, are also considered.(AU)

Pólipos del colon y recto / Polyps of colon and rectum

Polyp is a descriptive term used with reference to any mass of tisue that projects outward from the normal surface of th gastrointestinal tract. Morson and col. classified this disorder in 1962 in two categories: non-neoplasic (hamartomas) and neoplasic (tubular, villous and mixed). At preent, they are classified between polypoid formations termed serrated polyps, out of whom some can be assigned as potentially malignant. The author of this report describe successively the foloowing conditions: mlignant colorectal polyps, are those presenting an invasive carcinoma, that is with penetration through the muscularis mucosae, involving the regional lymph nodes. Other types: intestinal polyposis, familial adenomatous polyposis Turcot syndrome (malingnant tumors of the central nervous system associated with familial polyposis of the colon) juvenile polyposis; Cowden disease: described since the disease suffered by the patient Rachel Cowden (also termed as multiple hamartomas syndrome) hereditary and preneoplasic with autosomic and dominant transmission, Peutz-Jeghers syndrome: hereditary disease with autonomic and dominant transmission, characterized by a harmatous gastrointestinal polyposis with melanin pigmentation of the skin, and melanin spots of the bucal mucous membrane. Bleeding and anemia are frequent complications. Syndrome of De Ruvalcalva-Myre-Smith: associates hamartosus polyposis juvenile and other disorders as macrocephalia, psychomotor madurative delay and pigmentary changes of the genitalia, and Cronkhite-Canada syndrome, a generalized gastrointestinal polyposis, even those considered benign, can suffer by different causes, a malignant transformation. The author also refers the surgical manament, adenomas and malignant transformation and the development of carcinogenesis. The genetic of adenomas and colerectal cancer, are also considered.

Diagnóstico de síndrome de Cowden a partir de papilomatosis oral / Diagnosis of Cowden's syndrome based on the identification of oral papillomatosis

El síndrome de Cowden o síndrome de hamartomas múltiples, es una rara genodermatosis de tipo autosómico dominante con expresividad variable. Los pacientes muestran una mezcla compleja de lesiones hamartomatosas de origen ectodérmico, mesodérmico y endodérmico, entre las que destacan pápulas en piel y mucosa oral, alteraciones en la tiroides, glándulas mamarias y tracto gastrointestinal. El diagnóstico temprano es de gran importancia, ya que los hombres afectados muestran alta susceptibilidad para desarrollar carcinoma de tiroides y las mujeres carcinoma de mamas. Este artículo describe las características de una paciente de 28 años de edad, cuyo diagnóstico de enfermedad de Cowden se estableció a partir del estudio clínico e histológico de pequeñas pápulas que representaba en encías y dorso de la lengua. Asimismo, a la lista de alteraciones que componen el síndrome se agrega la presencia de siringomas faciales.