RESUMEN
Granulomatous mycosis fungoides (MF) is a rare subtype of MF, characterized by the histological presence of a granulomatous reaction, but distinct clinical characteristics are not present. A 41-year-old healthy man presented with poikiloderma, ichthyosis and erythematous scaly plaque. Histological examination of a biopsy taken from poikilodermic skin showed a granulomatous reaction to epidermotropic atypical lymphocytes. However, in other areas there were only findings of conventional MF without granuloma. Granulomatous MF may be associated with poikiloderma.
Asunto(s)
Micosis Fungoide/patología , Síndrome Rothmund-Thomson/patología , Piel/patología , Adulto , Biopsia , Diagnóstico Diferencial , Humanos , Masculino , Micosis Fungoide/tratamiento farmacológico , Recurrencia , Síndrome Rothmund-Thomson/tratamiento farmacológicoRESUMEN
BACKGROUND: Subacute cutaneous lupus erythematosus (SCLE) is a distinct subset of lupus erythematosus with unique clinical, immunological and genetic features. Among the unusual variants of SCLE, there is a poikilodermic presentation. However, to date, only 1 case of poikilodermatous SCLE has been reported. OBJECTIVE: Our goal was to summarize the clinical characteristics and course as well as the pathological, laboratory and immunofluorescence findings of 4 patients with poikilodermatous SCLE. METHODS: A retrospective study was conducted including 54 patients diagnosed as having SCLE between 1980 and 2002. RESULTS: Four patients (7.4%) had SCLE. All patients were alive, and none developed severe systemic involvement in up to 36 years (median, 24 years) after the onset of disease. The most noteworthy laboratory finding was the cutaneous deposition of amyloid. CONCLUSION: Poikilodermatous SCLE represents an uncommon variant within the clinicopathological spectrum of SCLE following a favorable course, in spite of extensive cutaneous involvement. Photosensitivity is the pathomechanism explaining, theoretically, the development of both poikiloderma and cutaneous amyloidosis in such cases.
Asunto(s)
Lupus Eritematoso Cutáneo/patología , Síndrome Rothmund-Thomson/patología , Adulto , Distribución por Edad , Anciano , Antimaláricos/uso terapéutico , Biopsia con Aguja , Quimioterapia Combinada , Femenino , Técnica del Anticuerpo Fluorescente Indirecta , Estudios de Seguimiento , Humanos , Inmunohistoquímica , Incidencia , Italia/epidemiología , Lupus Eritematoso Cutáneo/tratamiento farmacológico , Lupus Eritematoso Cutáneo/epidemiología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Medición de Riesgo , Síndrome Rothmund-Thomson/tratamiento farmacológico , Síndrome Rothmund-Thomson/epidemiología , Índice de Severidad de la Enfermedad , Distribución por Sexo , Esteroides/uso terapéutico , Resultado del TratamientoRESUMEN
El síndrome de Rothmund-Thomson es una rara genodermatosis autosómica recesiva, descrita por primera vez en 1868. Se caracteriza por cambios poiquilodérmicos (atrofia, telangiectasias, despigmentación), cataratas juveniles y anormalidades esqueléticas. Presentamos dos pacientes portadores de éste síndrome, justificando ésta publicación en la baja frecuencia de la entidad, destacando las calcificaciones cutáneas como una asociación inusual en uno de los casos
Asunto(s)
Humanos , Adulto , Femenino , Cromosomas Humanos Par 8 , Síndrome Rothmund-Thomson/diagnóstico , Trisomía , Catarata , Hipogonadismo , Osteosarcoma , Trastornos por Fotosensibilidad , Síndrome Rothmund-Thomson/complicaciones , Síndrome Rothmund-Thomson/patología , Síndrome Rothmund-Thomson/tratamiento farmacológico , TelangiectasiaRESUMEN
El síndrome de Rothmund-Thomson es una rara genodermatosis autosómica recesiva, descrita por primera vez en 1868. Se caracteriza por cambios poiquilodérmicos (atrofia, telangiectasias, despigmentación), cataratas juveniles y anormalidades esqueléticas. Presentamos dos pacientes portadores de éste síndrome, justificando ésta publicación en la baja frecuencia de la entidad, destacando las calcificaciones cutáneas como una asociación inusual en uno de los casos (AU)
Asunto(s)
Humanos , Adulto , Femenino , Síndrome Rothmund-Thomson/diagnóstico , Trisomía , Cromosomas Humanos Par 8 , Trastornos por Fotosensibilidad/etiología , Osteosarcoma/complicaciones , Catarata/complicaciones , Catarata/etiología , Hipogonadismo/complicaciones , Hipogonadismo/etiología , Telangiectasia/etiología , Síndrome Rothmund-Thomson/patología , Síndrome Rothmund-Thomson/complicaciones , Síndrome Rothmund-Thomson/tratamiento farmacológicoRESUMEN
Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder characterized by skin abnormalities that appear in infancy, skeletal abnormalities, juvenile cataracts and other manifestations of premature aging, and a predisposition to malignancy. The diagnosis is made on clinical grounds as no consistent laboratory test has been identified. Chromosome studies have been reported for only three patients with RTS and in two of these three, trisomy 8 mosaicism was found. We performed a variety of cytogenetic and molecular genetic studies on two siblings with RTS and on their phenotypically normal parents. Two chromosomally abnormal clones involving either trisomy 8 or i(8q) were found in both patients with RTS. These clones were present in vivo, as they were seen in interphase buccal smears and lymphocytes from unstimulated preparations using both conventional cytogenetic studies and fluorescence in situ hybridization (FISH) with a centromere probe for chromosome 8. These results suggest that RTS is associated with in vivo clonal chromosomal rearrangements causing an acquired somatic mosaicism.