COVID-10 revealing a new type of mask

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Sweet's syndrome with arthritis in an 8-month-old boy

Sweet's syndrome was diagnosed in a 4-month-old boy. He was successfully treated with systemic corticosteroids. At the age of 8 months, he developed acute arthritis in his right knee. The synovial fluid was analyzed and revealed a very high neutrophil count and neutrophil activation with a detectable level of intraarticular granulocyte-monocyte colony stimulating factor (GM-CSF). Prednisone injection into the knee led to dramatic improvement. No recurrence occurred. Although arthritis and/or arthralgia are common features in adult patients with Sweet's syndrome, this is the first reported case of Sweet's arthritis in a child

Dermatologie néonatale

Nous rapportons le résumé de la PEAU’se dermatologique du 15 mai 2017 des Cliniques universitaires Saint-Luc concernant la dermatologie néonatale. Le Dr Karine Despontin, dermatologue pédiatrique aux Cliniques universitaires UCL de Mont-Godinne et le Dr Valérie Dekeuleneer, permanente dans le service de Dermatologie des Cliniques universitaires Saint-Luc, ont présenté à tour de rôle une multitude de cas cliniques, aussi bien des éruptions néonatales fréquentes que des affections beaucoup plus rares et plus complexes. Le Dr Aurélie Coutellier, assistante au sein du service de Dermatologie des Cliniques universitaires Saint-Luc, a quant à elle exposé divers cas cliniques de pustuloses néonatales et a rappelé les différentes étiologies possibles. Un algorithme diagnostique de ce type d’éruption a été proposé.We herein report on the “PEAU’se dermatologique” meeting of the Cliniques universitaires Saint-Luc held on May 15, 2017, focused on neonatal dermatology . Doctor Karine Despontin, resident pediatric dermatologist at the UCL Mont-Godinne university hospital, and Doctor Valérie Dekeuleneer, dermatologist at the dermatology department of the Cliniques universitaires Saint-Luc, presented a variety of clinical cases ranging from common neonatal skin rashes to more complex and rare diseases . Doctor Aurélie Coutellier, resident physician at the Cliniques universitaires Saint-Luc, reported on several clinical cases of neonatal pustulosis, whilst discussing the potential differential diagnoses . A diagnostic algorithm was additionally proposed in order to adequately manage this type of skin eruption

Overlap between linear scleroderma, progressive facial hemiatrophy and immune-inflammatory encephalitis in a paediatric cohort

Linear scleroderma en coup the sabre (LSCS), progressive facial hemiatrophy (PFH) and autoimmune encephalitis are distinct clinical entities, although patients with overlapping features have been reported. We performed a multicenter retrospective review of a series of children with LSCS and/or PFH to explore the relation between these entities. The files of 16 children were reviewed, 11 presented with LSCS, 5 with PFH, with time overlapping cutaneous features were seen. Extracutaneous signs were found in both groups. ANA were present in more than 50 % of patients. Almost half of our patients presented with CNS manifestations comprising unilateral headache, migraine and epilepsy with or without abnormalities on MRI. Brain biopsy in one patient was consistent with Rasmussen encephalitis. In two other children, associated autoimmune manifestations were present.status: publishe

Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype

Shwachman–Diamond syndrome (SDS) is a recessive ribosomopathy, characterized by bone marrow failure and exocrine pancreatic insufficiency (ePI) often associated with neurodevelopmental and skeletal abnormalities. The aim of this report is to describe a SDS patient with early ichthyosis associated with dermal and epidermal intracellular lipid droplets (iLDs), hypoglycemia and later a distinctive clinical SDS phenotype. At 3 months of age, she had ichthyosis, growth retardation, and failure to thrive. She had not cytopenia. Ultrasonography (US) showed pancreatic diffuse high echogenicity. Subsequently fasting hypoketotic hypoglycemia occurred without permanent hepatomegaly or hyperlipidemia. Continuous gavage feeding was followed by clinical improvement including ichthyosis and hypoglycemia. After 14 months of age, she developed persistent neutropenia and ePI consistent with SDS. The ichthyotic skin biopsy, performed at 5 months of age, disclosed iLDs in all epidermal layers, in melanocytes, eccrine sweat glands, Schwann cells and dermal fibroblasts. These iLDs were reminiscent of those described in Dorfman–Chanarin syndrome (DCS) or Wolman's disease. Both LIPA and CGI-58 analysis did not revealed pathogenic mutation. By sequencing SBDS, a compound heterozygous for a previously reported gene mutation (c.258 + 2T>C) and a novel mutation (c.284T>G) were found. Defective SBDS may hypothetically interfere as in DCS, with neutral lipid metabolism and play a role in the SDS phenotype such as ichthyosis with dermal and epidermal iLDs and hypoglycemia. This interference with neutral lipid metabolism must most likely occur in the cytoplasm compartment as in DCS and not in the lysosomal compartment as in Wolman's disease. © 2016 Wiley Periodicals, Inc.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Embryotoxicity of human sera from patients treated with isotretinoin

Sera of 20 patients treated with 20-40 mg isotretinoin/day were tested for embryotoxicity potential. For each patient, the first sample was taken before treatment (control sample) and the second was taken 2 months after the start of treatment (treated sample). Six embryos displaying six or seven pairs of somites were cultured for 26 hr in each serum sample, when sufficient serum was available. No deaths were observed in the control sample, whereas dead embryos (6%) were observed in the treated sample. The rates of malformed embryos were 13 and 81% in the control and in the treated sample, respectively. The most frequent abnormalities affected the cephalic neural tube, the branchial bars, the yolk sac circulation and the caudal neural tube. Growth and differentiation were significantly decreased in the treated sample. The concentrations of isotretinoin and of two metabolites (trans-retinoic acid and 4-oxo-isotretinoin) were measured in 12 sera. A correlation between embryotoxicity and concentration was established for two of the chemicals. Modulation of the embryotoxicity by drug-induced changes in the serum cannot be excluded