Extensive acantholysis as the major histological feature of a severe case of Dowling Meara-epidermolysis bullosa simplex: a reappraisal of acantholysis in the newborn.

Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin disorders characterized by blistering and skin fragility secondary to mechanical trauma. Epidermolysis bullosa simplex (EBS) is the most frequent form of EB, with Dowling-Meara (DM-EBS) subtype being the most severe form in this group. Conventional histopathological evaluation is usually of low value in the diagnosis of EB, and significant histological features have rarely been reported in this group of diseases. We describe a case of severe DM-EBS in which acantholysis was observed in the histological examination. This finding led us to consider other diagnoses, such as neonatal pemphigus vulgaris or lethal acantholytic EB. Histological, immunological, ultrastructural and genetic tests were performed, leading to a final diagnosis of DM-EBS. Therefore, we believe that DM-EBS should be considered in the differential diagnosis of a newborn with blisters, where acantholysis is the main histological feature.

Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients.

Porphyria cutanea tarda is the most frequent porphyria and occurs in both sporadic and familial forms. We conducted the current study in a series of 152 consecutive patients with porphyria cutanea tarda attending the Porphyria Unit of the Hospital Clinic of Barcelona, Spain, to update the clinical manifestations of the disease and to study the sex differences, the proportion of familial forms, and the role of different risk factors in this population. Patients were classified as familial and sporadic cases according to erythrocyte uroporphyrinogen-decarboxylase activity and uroporphyrinogen-decarboxylase genotyping. In our cohort, skin fragility and blisters on the hands were the most frequent clinical manifestations. Women more frequently had facial hypertrichosis (84.8%; p = 0.004), affected areas other than the hands and face (33.3%; p = 0.008), and pruritus (27.3%; p = 0.041) compared with men. Of our patients, 11.8% did not present the typical clinical onset of the disease, with facial hypertrichosis and hyperpigmentation the more frequent complaints in these cases. Analysis of risk factors showed a high prevalence of hepatitis C virus infection (65.8%) and alcohol abuse (59.9%), both being more frequent in men (p < 0.001). Hepatitis C virus infection was the only risk factor that showed differences between the sporadic and familial forms in the logistic regression model (odds ratio, 0.05; 95% confidence interval, 0.006-0.46). In conclusion, atypical forms of presentation of porphyria cutanea tarda should be considered in order to prevent delayed diagnosis. We note the sustained role of hepatitis C virus infection in the precipitation of sporadic porphyria cutanea tarda. Therefore, in countries with a high prevalence of hepatitis C virus infection, the absence of such infection in a patient with porphyria cutanea tarda may suggest a possible familial case.