Results 41 to 50 of about 5,748 (201)
Harlequin Ichthyosis: a rare congenital dermatological disorder
, 2017 Harlequin Ichthyosis is the most severe form of congenital Ichthyosis presenting at birth. It is a very rare disorder with autosomal recessive inheritance. Perinatal mortality is high and the survivors develop severe erythroderma subsequently.
Mehrotra, Manju +3 more
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Romanian Journal of Laboratory Medicine, 2016 Introduction: Autosomal recessive congenital ichthyosis is a non-syndromic ichthyosis, with a genetic background of mutations in 9 genes. This case series presents clinical and paraclinical particularities of 3 Romanian ARCI patients with NIPAL4 mutation
Maier Dalila +4 more
doaj +1 more source
Harlequin ichthyosis newborn: A case report
SAGE Open Medical Case Reports, 2022 Harlequin ichthyosis is a rare and severe genetic skin disorder that occurs within the developing foetus. Harlequin ichthyosis is the most severe and devastating form of autosomal recessive congenital ichthyoses.
Maryam Nikbina, Masoumeh Sayahi
doaj +1 more source
JPGN Reports, EarlyView.Abstract Objective We sought to assess the impact of a novel central line securement vest on the rate of line complications (trauma, infections, and replacements), and measures of quality of life (QOL) in pediatric patients with intestinal failure. Methods We enrolled patients at a single tertiary pediatric center.
Ryan E. St. Pierre‐Hetz +6 more
wiley +1 more source
Ichthyosis as one of the forms of hereditary pathology of fetus and newborn
Медицинский вестник Юга России, 2020 A retrospective analysis of the course of pregnancy and childbirth during the birth of a child with a congenital pathology «ichthyosis» was carried out.
A. A. Borscheva +2 more
doaj +1 more source
Early Acitretin Therapy in a Patient With Harlequin Ichthyosis
JEADV Clinical Practice, EarlyView.ABSTRACT Harlequin ichthyosis (HI) is a rare, severe congenital disorder of keratinization caused by pathogenic variants in the ABCA12 gene resulting in thick, hyperkeratotic plates, deep fissures, and characteristic facial and limb abnormalities.
Orasa Sukmark +2 more
wiley +1 more source
Emerging Paediatric Uses of Dupilumab Beyond Approvals
Clinical &Experimental Allergy, EarlyView.Dupilumab, through IL‐4Rα blockade, shows promising efficacy beyond approved indications in paediatric diseases driven by T2 inflammation. Emerging evidence—mainly from small studies—supports improvements in disease severity and quality of life, highlighting its potential as a targeted, steroid‐sparing therapy while underscoring the need for ...
Simone Foti Randazzese +11 more
wiley +1 more source
Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]
, 2007 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
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Rare Secondary Neoplasms Arising in Epidermal Nevus: A Case Series and Literature Review
Journal of Cutaneous Pathology, EarlyView.ABSTRACT Malignant transformation is known to occur with many nevi, such as nevus sebaceus. However, cases of secondary tumors developing in an epidermal nevus (EN) are rare, with only a few case reports documented in the literature. We present three unique cases of syringocystadenoma papilliferum (SCAP), syringofibroadenoma, trichilemmoma, and basal ...
Haya A. Homsi +5 more
wiley +1 more source
Congenital Ichthyosis in Pediatric Age Group: A Clinical study [PDF]
, 2008 INTRODUCTION : Ichthyoses comprise of a heterogeneous group of disorders, due to defect in keratinization or cornification with abnormal differentiation and desquamation of epidermis. It is clinically characterized by dry rough skin with scaling over
Sivayadevi, P
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