Infantile hemangioma (IH) is the most common vascular tumor in infancy, and its physiopathology is not fully understood. Nevertheless, a hypoxic insult may be an essential element for the formation of an IH. Herein, we describe a case of a 25-week premature newborn who developed an IH after a post-burn scar and its evolution.
View Article and Find Full Text PDFCoronavirus disease-2019 in children has been linked to various clinical presentation, from paucisymptomatic cutaneous eruptions, to multisystemic inflammatory syndrome. We report the case of an 8-year-old boy who presented with persistent fever and pancytopenia, associated to a skin rash. An extensive etiological workup showed a positive serology for severe acute respiratory syndrome coronavirus 2 and Epstein-Barr virus.
View Article and Find Full Text PDFIFAP syndrome is a rare genetic disorder characterized by ichthyosis follicularis, atrichia, and photophobia. Previous research found that mutations in MBTPS2, encoding site-2-protease (S2P), underlie X-linked IFAP syndrome. The present report describes the identification via whole-exome sequencing of three heterozygous mutations in SREBF1 in 11 unrelated, ethnically diverse individuals with autosomal-dominant IFAP syndrome.
View Article and Find Full Text PDFPregnancy can influence the development and progression of congenital arteriovenous malformations (AVM) and thus lead to life-threatening complications for the mother and fetus like high output cardiac failure and premature delivery. The simultaneous presence of a capillary malformation and AVM strongly suggests a RASA1 related disorder. Arteriovenous malformations, capillary malformation-arteriovenous malformation, capillaries/abnormalities, port-wine stain, pregnancy, RASA1 protein.
View Article and Find Full Text PDFCongenital arteriovenous malformations (AVM) represent a rare clinical entity. They are present at birth but can remain silent for many years. Due to their potential severity and their complex and specific management, the general practitioner should know when to suspect the presence of an AVM.
View Article and Find Full Text PDFIsothiazolinone is known to be a sensitizer and a frequent cause of contact dermatitis in adults. Cases of contact dermatitis have also recently been reported in children. Derivatives of isothiazolinone, such as methylisothiazolinone (MI) and methylchloroisothiazolinone (MCI), are commonly used in the care products of babies and children.
View Article and Find Full Text PDFFucosidosis is a rare lysosomal storage disease. A 14-year-old girl is presented, with recurrent infections, progressive dystonic movement disorder and mental retardation with onset in early childhood. The clinical picture was also marked by mild morphologic features, but absent dysostosis multiplex and organomegaly.
View Article and Find Full Text PDFDifficult to control atopic dermatitis (AD) presents a therapeutic challenge and often requires combinations of topical and systemic treatment. Anti-inflammatory treatment of severe AD most commonly includes topical glucocorticosteroids and topical calcineurin antagonists used for exacerbation management and more recently for proactive therapy in selected cases. Topical corticosteroids remain the mainstay of therapy, the topical calcineurin inhibitors tacrolimus and pimecrolimus are preferred in certain locations.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
July 2011
Aim: Aplasia cutis congenita (ACC) has been observed after fetal exposure to the antithyroid drug methimazole (MMI), but not reported after propylthiouracil (PTU), the current antithyroid drug of choice during pregnancy. This occurrence has implications for patient information and causal research.
Case Report: We describe a surviving term co-twin to a mother with hyperthyroidism exposed to PTU from conception to 34 weeks of gestation presenting with ACC at birth.
Angiomas are heterogenous vascular abnormalities, in terms of anatomy, biology and clinical course. Patients and families are often emotionally concerned. For all these reasons, a multidisciplinary approach is necessary in order to structure diagnostic and therapeutic work-up, and to ensure proper advice.
View Article and Find Full Text PDFBullous pemphigoid (BP) is an autoimmune blistering disorder that may very rarely occur in childhood. We describe a 9-month-old child who developed bullous pemphigoid while she was being treated for presumptive atopic eczema with a homeopathic regimen comprising sulfur, mercury, cantharides, and Rhus (Toxicodendron). She had generalized bullae and a progressive worsening of her general condition with asthenia, dehydration, malnutrition.
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