Assuntos
Queratina-17/genética , Mutação , Paquioníquia Congênita/genética , Adulto , Fatores Etários , Diagnóstico Diferencial , Cisto Epidérmico/genética , Feminino , Humanos , Ceratodermia Palmar e Plantar/diagnóstico , Ceratodermia Palmar e Plantar/genética , Masculino , Pessoa de Meia-Idade , Unhas Malformadas/genética , Paquioníquia Congênita/diagnóstico , Paquioníquia Congênita/patologia , Paquioníquia Congênita/fisiopatologia , LinhagemRESUMO
A 12-year-old girl with a three-year history of right eye disease was referred to our service after enucleation of her right eye. Histology showed a pleomorphic high-grade rhabdomyosarcoma. As there was extrascleral extension, we elected to treat her with local radiotherapy and adjuvant vincristine, dactinomycin, cyclophosphamide, and adriamycin. She remains disease free 35 months from diagnosis. Notably, a younger sibling died in early childhood as a result of a cerebellar medulloepithelioma. Although there were no teratoid elements in the rhabdomyosarcoma, our patient's unusual disease course would be consistent with rhabdomyosarcomatous differentiation in a teratoid medulloepithelioma.
Assuntos
Neoplasias Cerebelares/genética , Neoplasias Oculares/diagnóstico , Tumores Neuroectodérmicos Primitivos/genética , Rabdomiossarcoma/diagnóstico , Criança , Terapia Combinada , Neoplasias Oculares/genética , Neoplasias Oculares/terapia , Feminino , Predisposição Genética para Doença , Humanos , Rabdomiossarcoma/genética , Rabdomiossarcoma/terapia , Irmãos , Resultado do TratamentoRESUMO
A 59-year-old woman undergoing narrowband UVB phototherapy for treatment of psoriasis presented suddenly with tense blisters on both hips. The blisters were asymptomatic and disappeared within 24 hours. Histopathology together with a negative porphyrin screen made the diagnosis of pseudoporphyria. Blood tests including a full blood count, urea and electrolytes, liver function tests and antinuclear autoantibodies were normal. The patient was otherwise healthy; there was no history of extensive sun exposure, sunbeds or medication with non-steroidal anti-inflammatory drugs. This presentation of pseudoporphyria secondary to narrowband UVB radiation is unusual, as UVB radiation is not known to be associated with pseudoporphyria.
Assuntos
Porfirias/diagnóstico , Psoríase/radioterapia , Raios Ultravioleta/efeitos adversos , Terapia Ultravioleta/efeitos adversos , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-Idade , Porfirias/etiologia , Porfirias/patologia , Psoríase/patologiaRESUMO
Idiopathic arterial calcification in infancy is usually fatal with death in early life and diagnosis at post mortem. This report describes a unique, late presentation with hypertension and cardiac failure in a child aged 33 months, found to have widespread arterial calcification at radiological imaging. The calcium-phosphate axis was normal and there was no other demonstrable cause for calcification. Additionally, the histological features of arterial calcification at renal biopsy paralleled the findings in infants with this disorder. The late presentation in this case is unusual and has not been previously reported. Ultrasound and CT are sensitive for calcification, and the disease should be suspected in children presenting with cardiac or respiratory manifestations and features of arterial calcification, where no metabolic cause is established.