Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.

Neonatal ichthyosis and sclerosing cholangitis (NISCH) syndrome is an extremely rare entity with only 19 patients described in the literature. We report an extended family with the disorder and investigate the association of neurodevelopmental symptoms. Patients with CLDN1 mutations, and specifically « the Moroccan¼ c.200_201delTT deletion, may be an increased risk for neurodevelopmental symptoms such as learning disabilities, mental retardation, and language delay.

Acne fulminans induced by a low dose isotretinoin: case report and review of the literature.

Acne fulminans is a rare complication of classic acne. Less than 200 cases have been reported. It usually affects adolescent males with pre-existing acne vulgaris. It is characterized by an acute eruption of numerous and large inflammatory nodules, plaques, erosions, and ulcers covered by hemorrhagic crusts. The disorder may occur spontaneously or may be triggered by isotretinoin. We report a young boy who developed acne fulminans after isotretinoin therapy at a dose of 0.1mg/kg/day. A systematic literature review gathering previously reported cases on PubMed revealed that one similar case has been reported. Regarding therapeutic strategies, there are no randomized clinical trials to identify the best treatment for acne fulminans. Recommendations are based on case series and case reports. We share this case to raise awareness of the induction of acne fulminans by a very low dose of isotretinoin.

Asymptomatic Scalp Carriage among Household Contacts of Children Affected by Tinea Capitis: A Prospective Study in the Metropolitan Area of Brussels, Belgium.

Introduction: Tinea capitis (TC) is a superficial fungal infection affecting the scalp. The existence of asymptomatic carriers (ACs) could represent a potential reservoir responsible of (re)contamination and failure of treatment. No prospective studies on ACs in household contacts of TC patients in Europe have been published to date. Objectives: The aim of this study was to assess the prevalence of ACs in a cohort of household contacts of children who were diagnosed with TC in the metropolitan area of Bruxelles, Belgium. Methods: This prospective observational study was conducted from October 2015 to April 2016 at the Dermatology Department of the University Hospitals Brugmann, Saint-Pierre, Queen Fabiola Children Hospital. Results: Ninety-nine cases of TC from 95 different family circles were included. The main infectious agent identified was Microsporum audouinii in 53 cases. The mean age of TC patients was 5.8 years. Male/female ratio was 2.8. Eighty-one household contacts of TC patients were enrolled in the study. Two cases of ACs (5%) were identified. Conclusions: M. audouinii was the most common pathogen identified. The prevalence of ACs we report is on average higher compared to other European large cities. Larger prospective studies including all close contacts of affected patients are required in order to establish guidelines regarding identification and management of ACs.

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.

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.