PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria.

BACKGROUND: Acute hepatic porphyrias (AHPs) are a group of rare diseases that encompasses acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and 5-aminolaevulinic acid dehydratase deficiency porphyria. Symptoms of AHP are nonspecific which, together with its low prevalence, difficult the diagnosis and follow-up of these patients. MATERIAL AND METHODS: This project used DELPHI methodology to answer PICO questions related to management of patients with AHPs. The objective was to reach a consensus among multidisciplinary porhyria experts providing answers to those PICO questions for improving diagnosis and follow-up of patients with AHP. RESULTS: Ten PICO questions were defined and grouped in four domains: 1. Biochemical diagnosis of patients with AHP. 2. Molecular tests for patients with AHP. 3. Follow-up of patients with AHP. 4. Screening for long-term complications of patients with AHP. CONCLUSIONS: PICO questions and DELPHI methodology have provided a consensus on relevant and controversial issues for improving the management of patients with AHP.

Tumores de colisión sobre nevus sebáceo: claves para su diagnóstico dermatoscópico / Tumor Collision Over Sebaceous Nevus: Clues for Dermoscopic Diagnosis

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[The clinical spectrum of cutaneous neonatal lupus erythematosus]. / Espectro clínico del lupus eritematoso neonatal cutáneo.

BACKGROUND: Neonatal lupus erythematosus (NLE) is an uncommon disease described mainly through isolated case reports and a few published series. OBJECTIVE: To examine the clinical and serological spectrum, and course of the disease in neonates with NLE and cutaneous involvement. METHODS: A retrospective study was performed that included all children with NLE that came to the Dermatology Department between 1995 and 2006. RESULTS: Eight children with a diagnosis of NLE with cutaneous involvement were identified, with a male:female ratio of 3:1. Anti-Ro antibodies were found in all cases and no cases with anti-RNP antibodies were found. Facial lesions were observed in all cases and in 7 cases the skin eruptions cleared within 4.3 months; the remaining patient was still in follow up when the data were collected. The clinical course of patients who were followed up was satisfactory. CONCLUSIONS: In our series, NLE was three times more frequent in males. Involvement of sun-exposed areas, such as the face with annular lesions was the most common finding. We found one case of NLE with cutaneous involvement and persistent ductus arteriosus. Anti-Ro antibodies were found in all cases and skin eruptions cleared by 7 months of age, concurrent with the waning of the maternally derived antibodies. Four of the mothers were asymptomatic and unaware of their condition, emphasizing the importance of following up these patients due to the possibility of developing an autoimmune disease.

Espectro clínico del lupus eritematoso neonatal cutáneo / The clinical spectrum of cutaneous neonatal lupus erythematosus

Antecedentes: el lupus eritematoso neonatal (LEN) es una enfermedad poco frecuente descrita básicamente a través de casos aislados, con pocas series extensas publicadas. Objetivo: analizar las características clínicas, serológicas y el curso de la enfermedad en recién nacidos con LEN que consultaron por lesiones cutáneas. Métodos: se realizó un estudio retrospectivo, a partir de historias clínicas, de los niños con LEN que consultaron al servicio de dermatología en 1995–2006.Resultados: se estudió un total de 8 pacientes con una relación varón : mujer de 3:1. En todos los casos los niños presentaron anticuerpos anti-Ro y no se encontró ningún caso con anticuerpos anti-RNP. Las lesiones cutáneas afectaron a la cara en todos los casos y en 7 de los casos se resolvieron en una media de 4,3 meses; el caso restante continuaba en seguimiento cuando se recogieron los datos. La evolución de los pacientes en quienes se realizó seguimiento fue favorable. Conclusiones: en nuestra serie, el LEN ha sido 3 veces más frecuente en recién nacidos varones. La afectación de zonas fotoexpuestas, como la cara, con lesiones de morfología anular ha sido el hallazgo más frecuente. Hemos encontrado un caso de LEN con afectación cutánea y ductus arteriosus persistente. En todos los casos se han encontrado anticuerpos anti-Ro y las lesiones se han resuelto antes de los 7 meses de edad, coincidiendo con el aclaramiento de éstos. Debemos destacar que 4 de las madres estaban asintomáticas y desconocían su enfermedad y la importancia del seguimiento de estas pacientes ante el eventual desarrollo de una enfermedad autoinmunitaria (AU)

Background: Neonatal lupus erythematosus (NLE) is an uncommon disease described mainly through isolated case reports and a few published series. Objective: To examine the clinical and serological spectrum, and course of the disease in neonates with NLE and cutaneous involvement. Methods: A retrospective study was performed that included all children with NLE that came to the Dermatology Department between 1995 and 2006.Results: Eight children with a diagnosis of NLE with cutaneous involvement were identified, with a male : female ratio of 3:1. Anti-Ro antibodies were found in all cases and no cases with anti-RNP antibodies were found. Facial lesions were observed in all cases and in 7 cases the skin eruptions cleared within 4.3 months; the remaining patient was still in follow up when the data were collected. The clinical course of patients who were followed up was satisfactory. Conclusions: In our series, NLE was three times more frequent in males. Involvement of sun-exposed areas, such as the face with annular lesions was the most common finding. We found one case of NLE with cutaneous involvement and persistent ductus arteriosus. Anti-Ro antibodies were found in all cases and skin eruptions cleared by 7 months of age, concurrent with the waning of the maternally derived antibodies. Four of the mothers were asymptomatic and unaware of their condition, emphasizing the importance of following up these patients due to the possibility of developing an autoimmune disease (AU)