Results 91 to 100 of about 18,146 (216)

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification

Journal of Investigative Dermatology, 2017
In this paper, we report three patients with severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness. Biallelic mutations were found in VPS33B, encoding VPS33B, a Sec1/Munc18 family protein that interacts with Rab11a and ...
R. Gruber, C. Rogerson, C. Windpassinger, B. Banushi, A. Straatman-Iwanowska, J. Hanley, F. Forneris, R. Strohal, Peter Ulz, D. Crumrine, G. Menon, S. Blunder, M. Schmuth, T. Müller, Holly Smith, K. Mills, P. Kroisel, A. Janecke, P. Gissen   +18 more
semanticscholar   +1 more source

Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma

Clincal and Experimental Dermatology, 2018
Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell‐fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due
F. Smith, I. Kreuser‐Genis, C. Jury, N. Wilson, A. Terron-Kwiatowski, M. Zamiri   +5 more
semanticscholar   +1 more source

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.

Acta Dermato-Venereologica, 2016
Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4th subtype
M. Pigg, A. Bygum, A. Gånemo, M. Virtanen, F. Brandrup, A. Zimmer, A. Hotz, A. Vahlquist, J. Fischer   +8 more
semanticscholar   +1 more source

NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis

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, Florea Adrian, Tilinca Mariana Cornelia, Zazgyva Ancuța, Cosgarea Rodica   +4 more
doaj   +1 more source

Annular epidermolytic ichthyosis: An exceptional mild subtype of epidermolytic ichthyosis without genotype and phenotype correlation

JAAD Case Reports, 2019
AEI: annular epidermolytic ichthyosis EI: epidermolytic ichthyosis KRT: keratin PPK: palmoplantar keratoderma INTRODUCTION Annular epidermolytic ichthyosis (AEI) is a rare subtype of epidermolytic ichthyosis (EI) characterized by recurrent flares of ...
A. Reolid, L. Carrasco, L. Noguera‐Morel, A. Torrelo, I. Colmenero, N. Ortiz-Cabrera, Á. Hernández-Martín   +6 more
semanticscholar   +1 more source

Spontaneous subconjunctival abscess in congenital lamellar ichthyosis

Indian Journal of Ophthalmology, 2018
Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids.
Shivanand C Bubanale, Linda Maria Genoveva De Piedade Sequeira, Bhagyajyothi B Kurbet   +2 more
doaj   +1 more source

Ichthyosis

Buffalo medical journal
Citation: 'ichthyosis' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10835 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
  +5 more sources

Oral acitretin treatment in severe congenital ichthyosis of the neonate

The Turkish Journal of Pediatrics, 2002
Two newborn infants with ichthyosis, one with lamellar ichthyosis and one with nonbullous ichthyosis form erythroderma, who presented at birth with a collodion baby appearance, were treated with acitretin (1 mg/kg/day).
Z Nurhan Saraçoğlu, Neslihan Tekin, Selim M Urer, Ilham Sabuncu, Arif Akşit   +4 more
doaj  

Ichthyosis Congenita [PDF]

Proceedings of the Royal Society of Medicine, 1950
C H, Whittle, A, Lyell
openaire   +2 more sources

Case Report: Dental treatment under general anesthesia and dental management of a child with congenital ichthyosis

Frontiers in Dental Medicine
Congenital ichthyosis is a disease in which the stratum corneum on the surface of the skin becomes thick from the time of the fetus and the barrier function of the skin is impaired.
Ryoko Hino, Yuta Chiba, Yuriko Maruya, Manami Tadano, Shinji Otake, Seira Hoshikawa, Yoji Sasahara, Kan Saito   +7 more
doaj   +1 more source