RESUMEN
Methylmalonic acidaemia (MMA) is an inborn error of amino acid metabolism that may be associated with cutaneous manifestations mimicking other diagnoses, including staphylococcal scalded skin syndrome (SSSS), psoriasis and acrodermatitis enteropathica. Whether this is due to the underlying metabolic disorder itself or occurs as a consequence of dietary restriction has yet to be elucidated. Skin biopsies typically show histological features shared by a number of other metabolic disorders and nutritional deficiency-associated diseases. Some presentations, especially SSSS-like eruptions, may be associated with acute metabolic decompensation. An underlying metabolic disorder, such as MMA, should be considered in a diagnosed adult or undiagnosed child presenting with skin eruptions that resemble those listed above, so that specialist management may be initiated early.
Asunto(s)
Acrodermatitis/etiología , Errores Innatos del Metabolismo de los Aminoácidos/complicaciones , Piel/patología , Acrodermatitis/diagnóstico , Acrodermatitis/patología , Adulto , Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Biopsia , Diagnóstico Diferencial , Femenino , HumanosRESUMEN
We report the case of a 27-year-old woman presenting with unilateral painless nodules of the left hand following trauma. Initially diagnosed as nontuberculous mycobacterium infection and treated with prolonged courses of antibiotics with little improvement, the condition was subsequently diagnosed histologically as erythema elevatum diutinum (EED). The lesion was treated with surgical excision, and the patient remained lesion-free at the 1-year follow-up. Although the lesion was otherwise asymptomatic, further investigation demonstrated an underlying IgA paraproteinaemia. This case should alert physicians to consider the diagnosis of EED in a unilateral presentation, and highlights the importance of investigation for underlying associated haematological disease.
Asunto(s)
Dermatosis de la Mano/diagnóstico , Inmunoglobulina A/análisis , Paraproteinemias/complicaciones , Vasculitis Leucocitoclástica Cutánea/diagnóstico , Adulto , Femenino , Dermatosis de la Mano/etiología , Humanos , Vasculitis Leucocitoclástica Cutánea/etiologíaAsunto(s)
Melanoma/epidemiología , Enfermedades de la Uña/patología , Uñas/patología , Neoplasias Cutáneas/epidemiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Biopsia , Niño , Preescolar , Dermoscopía , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Londres/epidemiología , Masculino , Melanoma/diagnóstico , Melanoma/patología , Persona de Mediana Edad , Enfermedades de la Uña/diagnóstico , Uñas/diagnóstico por imagen , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología , Adulto JovenAsunto(s)
Hipoplasia Dérmica Focal/diagnóstico , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Mosaicismo , Enfermedades Cutáneas Vasculares/congénito , Aciltransferasas/genética , Adulto , Biopsia , Análisis Mutacional de ADN , Dermoscopía , Diagnóstico Diferencial , Femenino , Hipoplasia Dérmica Focal/sangre , Hipoplasia Dérmica Focal/genética , Hipoplasia Dérmica Focal/patología , Mutación del Sistema de Lectura , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Enfermedades Genéticas Ligadas al Cromosoma X/patología , Humanos , Proteínas de la Membrana/genética , Piel/diagnóstico por imagen , Piel/patología , Enfermedades Cutáneas Vasculares/diagnóstico , Enfermedades Cutáneas Vasculares/genética , Enfermedades Cutáneas Vasculares/patologíaAsunto(s)
Anticuerpos Monoclonales Humanizados/efectos adversos , Antineoplásicos Inmunológicos/efectos adversos , Liquen Plano/inducido químicamente , Melanoma/tratamiento farmacológico , Antiinflamatorios/uso terapéutico , Clobetasol/uso terapéutico , Humanos , Liquen Plano/tratamiento farmacológico , Liquen Plano/patología , Masculino , Melanoma/secundario , Persona de Mediana Edad , Prednisolona/uso terapéuticoRESUMEN
We report a case of superficial granulomatous pyoderma (SGP) treated successfully with infliximab. A 71-year-old woman developed erythema, erosions and cribriform scarring in the right periorbital area following enucleation of the right eye. Histology showed three-layered granulomas typical of SGP. The patient's disease was unusual in that it failed to respond to a wide variety of immunosuppressants and this condition is rarely reported to affect the face. Eventually she was treated successfully with infliximab, enabling her to undergo extensive surgery despite the fact that her disease was pathergic in onset.