ABSTRACT
La lentiginosis unilateral parcial es un desorden pigmentario raro caracterizado por múltiples lentigos agrupados sobre piel normal, que generalmente adquieren distribución segmentaria sin compromiso de la línea media. Se presenta un paciente de 57 años con múltiples lentigos en parte superior de dorso, hombro izquierdo, cara y esclerótica homolateral...
Subject(s)
Humans , Male , Adult , Lentigo/diagnosis , Lentigo/genetics , Lentigo/pathology , Skin/pathology , Pigmentation Disorders/pathologyABSTRACT
CONTEXT: Carney complex (CNC), a familial multiple neoplasm syndrome with dominant autosomal transmission, is characterized by tumors of the heart, skin, endocrine and peripheral nervous system, and also cutaneous lentiginosis. This is a rare syndrome and its main endocrine manifestation, primary pigmented nodular adrenal disease (PPNAD), is an uncommon cause of adrenocorticotropic hormone-independent Cushing's syndrome. CASE REPORT: We report the case of a 20-year-old patient with a history of weight gain, hirsutism, acne, secondary amenorrhea and facial lentiginosis. Following the diagnosing of CNC and PPNAD, the patient underwent laparoscopic bilateral adrenalectomy, and she evolved with decreasing hypercortisolism. Screening was also performed for other tumors related to this syndrome. The diagnostic criteria, screening and follow-up for patients and affected family members are discussed.
CONTEXTO: O complexo de Carney (CNC), uma síndrome de neoplasia múltipla familiar com transmissão autossômica dominante, caracteriza-se por tumores cardíacos, cutâneos, endócrinos e do sistema nervoso periférico, além de lentiginose cutânea. RELATO DE CASO: Devido à raridade da síndrome, bem como de sua principal manifestação endócrina, a doença adrenal nodular pigmentada primária (PPNAD), causa incomum de síndrome de Cushing ACTH-independente, relatamos o caso de uma paciente de 20 anos com história de ganho de peso, hirsutismo, acne, amenorréia secundária e lentiginose em face. Após estabelecido o diagnóstico de CNC e PPNAD, a paciente foi submetida a adrenalectomia bilateral via laparoscópica, evoluindo com melhora do hipercortisolismo. Também foi realizado rastreamento para os demais tumores relacionados à síndrome. Serão discutidos os critérios diagnósticos, o rastreamento e o acompanhamento dos pacientes e familiares afetados.
Subject(s)
Humans , Female , Adolescent , Adrenal Cortex Diseases/pathology , Cushing Syndrome/diagnosis , Lentigo/complications , Multiple Endocrine Neoplasia/diagnosis , Luminescent Measurements , Adrenal Cortex Diseases/blood , Adrenal Cortex Diseases/complications , Adrenal Cortex Diseases , Adrenalectomy , Cushing Syndrome/complications , Cushing Syndrome/etiology , Cushing Syndrome/surgery , Immunoassay , Lentigo/genetics , Multiple Endocrine Neoplasia/genetics , Tomography, X-Ray ComputedABSTRACT
This case report presents a patient with Leopard syndrome, with multiple lentigines all over the body and face, ocular hypertelorism, delayed secondary sexual characteristics, mild cardiac abnormalities and supernumerary teeth. Clinical relevance of this syndrome lies in its early recognition and precautions to be taken during any invasive dental procedure, which if not performed under antibiotic prophylaxis and premedication, could lead to infective endocarditis. Additionally, a multidisciplinary approach with pediatric and medical consultants is mandatory during the management of such cases.