Chantal Dangoisse

The prevalence of positive reactions in the atopy patch test with aeroallergens and food allergens in subjects with atopic eczema: a European multicenter study

Background:  The atopy patch test (APT) was proposed to evaluate IgE‐mediated sensitizations in patients with atopic eczema (AE).

Eosinophilic pustular folliculitis in three atopic children with hypersensitivity to Dermatophagoides pteronyssinus

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 Dermatophagoides 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.

Treatment of Epidermolysis bullosa with Human Cultured Epidermal Allografts

Junctional epidermolysis bullosa letalis type Herlitz Pearson is a genetically determined, life-threatening disease. Effective therapy has been lacking to date. Therefore any therapy that improves wound healing would be beneficial for these patients. Cultured epidermal grafts are known to enhance wound epithelialization and have been used with success in some epidermolysis bullosa disorders. Encouraged by these reports, we grafted cultured allogeneic keratinocytes to an infant with a junctional epidermolysis bullosa letalis type.

Multiple Eruptive Keratoacanthoma and Immunity Disorders

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.

Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes

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.

Oral ulceration: an unusual manifestation of Churg–Strauss syndrome

Churg–Strauss Syndrome (CSS) is a relatively rare entity characterized by asthma, transient pulmonary infiltrates, eosinophilia and systemic vasculitis. Oral ulceration is a possible clinical manifestation of some systemic vasculitides, such as Wegeners granulomatosis (WG) or giant cell arteritis, but has never been reported with Churg–Strauss syndrome. We report the first observation of a palatine ulceration in a 15‐year‐old girl with Churg–Strauss syndrome.

Congenital disseminated juvenile xanthogranuloma with unusual skin presentation and renal involvement

We present a case of congenital juvenile xanthogranuloma (JXG) with both cutaneous and renal involvement. Skin lesions consisted of bluish papules and nodules (blueberry muffin baby) located on the head, trunk and proximal extremities. Subsequent investigations revealed a renal mass. Histopathology of both cutaneous and renal specimens was consistent with JXG. Both clinical presentation and extracutaneous localization were remarkable.

Granulomatose cutanée chez un enfant immunodéficient

BACKGROUND The development of systemic and/or cutaneous granulomas associated with immunodeficiency is well established, particularly with common variable immunodeficiency (CVID). We report the case of an immunocompromised child presenting with cutaneous granulomas, predominantly on the face. PATIENTS AND METHODS A boy aged 6 years and 9 months presenting complex and incompletely defined immunodeficiency presented with gradually worsening cutaneous lesions of granulomatous aspect on his face and right foot. Extensive laboratory tests showed no infectious or neoplastic processes. Biopsies of the lesions confirmed the presence of granulomas. Systemic corticosteroids produced no satisfying improvement and were changed to anti-TNFα. The lesions had completely disappeared after 6 months. Treatment was continued for 6 months, with no relapse 6 months after discontinuation. CONCLUSION The originality of our case lies in the presentation of cutaneous granulomas, appearing in the context of an undefined immunodeficiency other than CVID, as well as in the therapeutic aspect, with the successful use of biotherapies in such a clinical setting.