Aeroallergens and food allergens are able to elicit eczematous skin reactions after epicutaneous application. As no gold standard for aeroallergen provocation in AE exists, the relevance of aeroallergens for AE flares may be evaluated by APT in addition to SPT and sIgE. The data may contribute to the international standardization of the APT.
Three children will be described who present recurrent episodes of pruritic papulopustular follicular lesions on the face, the extremities and the trunk. The episodes lasted for 1–3 months with intermittent remission. Each flare was accompanied by hypereosinophilia and an increased total IgE titer. RAST and prick tests were positive for Dermαtophagoides pteronyssinus (DPT). Laboratory tests disclosed no infectious or parasitic etiology. Histological examination showed eosinophilic pustular folliculitis (EPF) in each of the 3 cases. The lesions responded well to topical corticosteroids. The aim of this article is to underline the importance of hypersensitivity reactions (in these particular cases to DPT) in the pathogenesis of EPF.
We describe the natural history of the RTSII phenotype in a 7-year-old boy who developed intrauterine and postnatal growth retardation, failure to thrive and persisting diarrhoea. The growth hormone stimulation test identified an isolated growth hormone deficiency. Since infancy, the patient manifested skin lesions characterized by a very mild poikilodermic-like appearance on the cheeks only, widespread café-au-lait spots and the absence of eyebrows and eyelashes. There was no cataract. Orthopaedic and radiologic work-up identified the absence of thumb anomaly and radial head luxation and patellar hypoplasia. Neurologic, cognitive milestones and intelligence were normal. The cytogenetic work-up did not show any anomaly. Based on this clinical presentation, we carried out a sequencing analysis of the RECQL4 gene, which is responsible for Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes and found a splice site mutation (IVS10-1G>A) and a nucleotide substitution in exon 12 (L638P). The mother was identified as a carrier for the substitution in exon 12 and the father for the splice site mutation, respectively. An analysis of the transcripts focused on the RECQL4 helicase domain: in the proband only those generated from the maternal L638 allele were present. This case report emphasizes the clinical overlap between RAPADILINO and Rothmund-Thomson syndromes within a continuum phenotypic spectrum. The distinctive set of clinical signs displayed by the patient may be accounted for by his unique combination of two different RECQL4 mutations. The molecular findings provide information that enhances our comprehension of genotype-phenotype correlations in RECQL4 diseases, enables a more precise genetic counseling to the parents and facilitates a more appropriate long-term follow-up to the affected child.
A 68-year-old woman presents multiple keratoacanthoma of the Witten and Zak type associated with immunity disorders. A dramatic regression of the lesions is noticed while the patient is treated with an association of loratadine and ranitidine. Hypotheses are proposed in view of a possible role of ranitidine, an anti-H2 antihistaminic.
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