RESUMO
The L.E.O.P.A.R.D. syndrome is an autosomal, dominant disorder with characteristic features that include: multiple lentigines, café au lait spots, electrocardiographic conduction abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonary stenosis, abnormal (male) genitalia, retardation of growth, and deafness. Patients do not usually present all the clinical features traditionally associated with the disorder. Indeed, several features are not present until late in life and do not become clinically manifest until puberty. It has been observed that this syndrome is caused by a "missense" mutation in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located on chromosome 12q22. A diagnosis of LEOPARD syndrome may be established exclusively on the basis of clinical criteria. In our case, the patient was diagnosed with the syndrome late in his life when he was already exhibiting all its distinctive clinical features. We have reported the case of a LEOPARD syndrome patient exhibiting extremely elongated vertebral and basilar arteries previously undescribed in the literature.
Assuntos
Síndrome LEOPARD/diagnóstico , Idoso , Artéria Basilar/patologia , Humanos , Síndrome LEOPARD/genética , Lentigo/patologia , Masculino , Mutação de Sentido Incorreto , Reação em Cadeia da Polimerase , Prognatismo/patologia , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Artéria Vertebral/patologiaRESUMO
INTRODUCTION: Neurofibromatosis type 1 (NF1), known as von Recklinghausen's disease, is characterized by presence of café au lait spots, and neurofibromas in the skin or along the course of peripheral nerves. Diagnosis, despite extreme clinical variability, is defined by established diagnostic criteria. Clinical status is frequently complicated by systemic disorders and neoplasias. CASE REPORT: A case of a patient affected by NF1, with hypertension due to adrenal pheochromocytoma and with jejunal neurofibroma, is reported. DISCUSSION AND CONCLUSIONS: Variability in clinical presentation of NF1 with possible manifestation of severe systemic benign and malignant diseases requires strict follow-up and specific screening of extra-cutaneous lesions.
Assuntos
Neoplasias das Glândulas Suprarrenais , Neoplasias do Jejuno , Neoplasias Primárias Múltiplas , Neurofibromatose 1 , Feocromocitoma , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/cirurgia , Adulto , Humanos , Neoplasias do Jejuno/diagnóstico , Neoplasias do Jejuno/cirurgia , Masculino , Neoplasias Primárias Múltiplas/diagnóstico , Neoplasias Primárias Múltiplas/cirurgia , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/cirurgia , Feocromocitoma/diagnóstico , Feocromocitoma/cirurgiaRESUMO
Pachyonychia congenita is a rare syndrome in which the main and most common clinical sign is onychodystrophy of all finger and toe nails. The most frequent type of transmission seems to be autosomal dominant, but recessive forms have also been described. Typical onychodystrophy can be associated with other clinical manifestations. The most recent literature refers to descriptions of about 250 cases up until 1993. Numerous classifications of pachyonychia congenita have been suggested by several authors over the years. We report two cases of pachyonychia congenita in association with steatocystoma multiplex in a mother and son.