RESUMO
A 2-month-old white girl born to nonconsanguineous parents presented to the dermatology department with hair loss that had commenced a few months after birth. Although her hair loss later stabilized, it remained sparse. By the age of 2 years, she was noted to have developed focal keratoderma over pressure points of the soles. Aged 5 years, she was admitted to hospital with a chest infection, and investigations at that point revealed that she had a dilated cardiomyopathy. Subsequent genetic investigations identified compound heterozygous mutations in the 3' end of the desmoplakin (DSP) gene (7567delAAGA and 6577G>A), explaining the cardiocutaneous phenotype.
Assuntos
Alopecia/genética , Cardiomiopatia Dilatada/genética , Desmoplaquinas/genética , Mutação da Fase de Leitura , Folículo Piloso/anormalidades , Substituição de Aminoácidos , Evolução Fatal , Feminino , Dermatoses do Pé/genética , Heterozigoto , Humanos , Lactente , Ceratodermia Palmar e Plantar/genéticaRESUMO
A 43-year-old man with an 8-month history of swelling of the tongue is described. Biopsy of the tongue revealed numerous epithelioid cell granulomata. A positive Kveim test, elevated angiotensin converting enzyme level and bilateral hilar lymphadenopathy confirmed the diagnosis of sarcoidosis. Sarcoidosis presenting in the tongue is extremely rare.
Assuntos
Sarcoidose/patologia , Doenças da Língua/patologia , Adulto , Humanos , Teste de Kveim , Masculino , Língua/patologiaRESUMO
We describe the case of an elderly lady who presented with a severe crusting skin eruption, mainly affecting the flexural areas and trunk. A diagnosis of Langerhans cell histiocytosis was confirmed by electron microscopy, and her condition was eventually controlled with systemic prednisolone and short courses of etoposide. An unusual feature of this case was the development of severe pyogenic abscesses, particularly involving the cervical region. No underlying immunological defect has been found to explain this.
Assuntos
Abscesso/complicações , Histiocitose de Células de Langerhans/complicações , Infecções por Proteus/complicações , Infecções Estafilocócicas/complicações , Idoso , Idoso de 80 Anos ou mais , Feminino , Histiocitose de Células de Langerhans/diagnóstico , Humanos , Proteus/isolamento & purificação , Staphylococcus aureus/isolamento & purificaçãoRESUMO
We report elastosis perforans serpiginosa (EPS) arising in three patients with Ehlers-Danlos syndrome, osteogenesis imperfecta and Down's syndrome. These cases illustrate some of the rare but well-recognized disease associations with EPS. The other causes of EPS are reviewed.