RESUMEN
A 55-year-old woman presented with blistering on the back of her hands and shiny, thickened skin in her décolletage. Laboratory examination revealed increased urinary total and high carboxylated porphyrins and homozygosity for mutation C282Y in the HFE gene. Histopathology showed thickened collagen fibers in the presternal region. Based on these findings we made the diagnosis of porphyria cutanea tarda with pseudoscleroderma and hemochromatosis. Pseudoscleroderma is a rare complication of PCT but can also constitute the first cutaneous symptom of the disease, leading the way to diagnosis. Usually, adequate treatment of PCT with normalization of porphyrin values also results in improvement of pseudoscleroderma.
Asunto(s)
Cloroquina/uso terapéutico , Hemocromatosis/diagnóstico , Hemocromatosis/tratamiento farmacológico , Porfiria Cutánea Tardía/diagnóstico , Porfiria Cutánea Tardía/tratamiento farmacológico , Esclerodermia Difusa/diagnóstico , Esclerodermia Difusa/tratamiento farmacológico , Femenino , Hemocromatosis/genética , Proteína de la Hemocromatosis , Antígenos de Histocompatibilidad Clase I/genética , Humanos , Proteínas de la Membrana/genética , Persona de Mediana Edad , Mutación/genética , Porfiria Cutánea Tardía/genética , Esclerodermia Difusa/genéticaRESUMEN
BACKGROUND: Several surgical techniques are available for the treatment of stable leucoderma. The use of noncultured epidermal cellular grafting was introduced in 1992. Data on long-term follow-up regarding stability of the repigmented area, time to achieve the final repigmentation, colour matching, reaction to sun exposure and patient satisfaction with treatment have been reported only a few times previously. OBJECTIVES: To evaluate the long-term results of the noncultured epidermal cellular grafting technique in patients with different types of leucoderma, including segmental vitiligo (n = 33), generalized vitiligo (n = 33), mixed vitiligo (n = 6), halo naevi (n = 11), piebaldism (n = 3) and naevus depigmentosus (n = 1). METHODS: Patients were evaluated by examination and questionnaire in a retrospective setting after transplantation by autologous noncultured cellular grafting. Percentage of repigmentation was evaluated in 82 patients using a digital imaging analysis system (mean follow-up 15 months). Long-term results were evaluated by 54 patients using a questionnaire up to 7·7 years after treatment (mean 4 years). RESULTS: More than 75% repigmentation was achieved in 71% of patients. Best results were obtained in segmental vitiligo, halo naevi and piebaldism, whereas results in generalized or mixed vitiligo were inferior. According to the patients, final repigmentation was achieved after a mean of 10 months post-treatment. In 80% some colour mismatch (hyperpigmentation and hypopigmentation) was reported between the treated area and the surrounding skin, although this was not disturbing for the majority. This colour mismatch was reported significantly less after sun exposure (P = 0·012). During follow-up 7% of patients, all with generalized vitiligo, observed some loss of the achieved repigmentation. CONCLUSIONS: Autologous epidermal cellular grafting achieved a high percentage of repigmentation, which was maintained during follow-up in the majority of patients. Although it improved quality of life, a perfect colour match was seldom obtained.