The authors assessed the clinical efficacy, tolerability and safety of acitretin in a patient with ichthyosis. A newborn infant with ichthyosis who presented at birth with collodion baby appearance, was treated with acitretin. A moderate response to acitretin therapy (1 mg/kg/day) administered for 6 months was observed, with improvement in cutaneous lesions. Clinical improvement was achieved shortly after treatment. The treatment resulted in a satisfactory improvement in the skin condition of the case. The tolerance to the drug was good. Side effects were not observed. The oral acitretin treatment is efficient in severe congenital ichthyosis.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Liver Transplant Outcome in Chanarin-Dorfman Syndrome: A Rare Lipid Storage Disease.
Exp Clin Transplant
December 2024
>From the Department of Anesthesia and Intensive Care, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Chanarin-Dorfman syndrome is a multisystem inherited metabolic disorder characterized by congenital ichthyosis and lipid droplet accumulation in various organs, including the liver, muscles, and skin. The accumulation of lipids in the liver can lead to cirrhosis, liver failure, and even hepatocellular carcinoma. Here, we present a 17-year-old girl who underwent a deceased donor liver transplant to treat uncompensated cirrhosis due to Chanarin-Dorfman syndrome.
View Article and Find Full Text PDFGenetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis.
Taiwan J Obstet Gynecol
January 2025
Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Medical Research, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taichung, Taiwan; Department of Medical Sciences, National Tsing Hua University, Hsinchu, Taiwan. Electronic address:
Objective: Ichthyosis are complex skin diseases, characterized by hyperkeratosis with various degrees of thickening, desquamation, and erythema. The prenatal diagnosis of ichthyosis is challenged due to the clinical and genetic heterogeneity and the late-onset of fetal features on ultrasound scan. Here, we reported two fetuses with Harlequin ichthyosis (HI), a severe subtype of autosomal recessive congenital ichthyosis (ARCI), who were diagnosed prenatally by images and genetic investigations.
View Article and Find Full Text PDFPrevalence of Malnutrition in Children With Congenital Ichthyoses in a Tertiary Care Centre in India.
Pediatr Dermatol
January 2025
Department of Dermatology, Lady Hardinge Medical College, New Delhi, India.
Malnutrition has been reported in congenital ichthyoses in several studies, but its prevalence in Indian children with congenital ichthyoses (CI) as compared to unaffected children is unknown. The objective was to assess the prevalence of malnutrition in 32 children with CI and matched healthy controls and to study the correlation between clinical severity of ichthyosis using visual ichthyosis index severity (VIIS) score with malnutrition, biochemical parameters (hemoglobin, vitamin D, protein and albumin). Malnutrition was detected in 46.
View Article and Find Full Text PDFNovel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma.
Acta Derm Venereol
January 2025
Infinity, University of Toulouse, CNRS, Inserm, UPS, Toulouse, France; CHU Toulouse, Purpan hospital, laboratory of cell biology and cytology, Federal Institute of Biology, Toulouse, France.
Suspect dyskeratotic neoformations in a 7-year-old child with keratitis-ichthyosis-deafness syndrome: diagnostic, surgical and wound care management.
Dermatol Reports
November 2024
Plastic Surgery Unit, Department of Neuroscience, University of Padua.
Keratitis-ichthyosis-deafness syndrome (KID) is a rare genetic disorder characterized by the triad of hyperkeratosis, ichthyosis, and congenital prelingual sensorineural deafness, with less than 100 cases described in the literature. In addition to many other extra-cutaneous manifestations, these patients are burdened by two principal increased risk factors involving the skin: the risk of developing infections and the risk of developing malignant skin tumors, especially Squamous Cell Carcinoma and Trichilemmal tumors. We present the case of a 7-year-old girl with a unique genetic variant described to date, who developed 4 dyskeratotic neoformation.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!