Asunto(s)
Calcinosis/diagnóstico , Enfermedades de la Piel/diagnóstico , Calcinosis/patología , Niño , Dermis/química , Dermis/patología , Diagnóstico Diferencial , Epidermis/patología , Femenino , Humanos , Queratosis , Miliaria/diagnóstico , Molusco Contagioso/diagnóstico , Enfermedades de la Piel/patologíaAsunto(s)
Errores Diagnósticos , Paniculitis/diagnóstico , Púrpura/diagnóstico , Niño , Diagnóstico Diferencial , Femenino , HumanosRESUMEN
We report a 28-year-old male with a voluminous growth of the tongue, present for 6 months. The histological examination revealed a squamous cell carcinoma. The patient was also affected by oral leukoplakia, nail dystrophy, reticulated poikiloderma of the neck and hyperkeratosis of palms and soles. On the basis of clinical features and histological findings, as well as findings from the family, the diagnosis of dyskeratosis congenita (DKC) was made.
Asunto(s)
Carcinoma de Células Escamosas/complicaciones , Disqueratosis Congénita/complicaciones , Neoplasias de la Lengua/complicaciones , Adulto , Carcinoma de Células Escamosas/patología , Disqueratosis Congénita/diagnóstico , Disqueratosis Congénita/patología , Humanos , Masculino , Neoplasias de la Lengua/patologíaRESUMEN
We report on a 14-year-old boy who presented with a 4-year history of acral pains and febrile episodes. On physical examination, numerous small reddish papules were present on his abdomen, located predominantly on the periumbelical region. Renal function was within normal limits. Ophthalmological examination revealed whorled opacities of the cornea (cornea verticillata) and dilated tortuous conjunctival vessels. Histopathological examination of one of the cutaneous papules showed several dilated blood vessels in the superficial dermis surrounded by collarettes of thickened rete ridges, consistent with a diagnosis of angiokeratoma. The electron-microscopic study of a skin specimen demonstrated the presence of dilated lysosomes with deposition of electron-dense bodies, some of which with laminated structure, in endothelial cells and fibroblasts. These findings were regarded as indicative of Fabry's disease. Subsequent biochemical analysis confirmed the presence of a alpha-galactosidase A deficiency in leukocytes. In conclusion, we described the clinical, histopathological and submicroscopic findings of a case of Fabry's disease, in which the combination of electron microscopic and biochemical approaches allowed the correct diagnosis.
Asunto(s)
Enfermedad de Fabry , Adolescente , Córnea/patología , Enfermedad de Fabry/diagnóstico , Enfermedad de Fabry/patología , Humanos , Masculino , Piel/patología , Piel/ultraestructuraAsunto(s)
Enfermedad de Fabry/genética , Adolescente , Adulto , Anciano , Enfermedad de Fabry/diagnóstico , Enfermedad de Fabry/epidemiología , Femenino , Glicoesfingolípidos/metabolismo , Humanos , Leucocitos/enzimología , Lisosomas/enzimología , Masculino , Persona de Mediana Edad , Linaje , alfa-Galactosidasa/genética , alfa-Galactosidasa/metabolismoRESUMEN
This paper reports the results of a series of light and electron microscopic, cytochemical, immunologic and cytogenetic investigations performed in a patient with Sézary syndrome. Fifty-two percent of the cerebriform cells were OKIa-1 positive and 55% were acid alpha-naphthyl-acetate esterase (ANAE) negative. Since activated T-lymphocytes are known to lose their peculiar ANAE activity while acquiring Ia-like antigens, it is conceivable that the ANAE-negative and OKIa-1-positive cells represent an in vivo activated subset. Thus, it appears that a typical Sézary cell population from a given individual can exhibit heterogeneous phenotypic profiles.