Results 31 to 40 of about 248,586 (158)

Case report of two brothers with a novel homozygous mutation in ALOX12B leads to autosomal recessive congenital ichthyosis: Which type and which subtype? Two siblings with a novel homozygous mutation in ALOX12B

Dermatologica Sinica, 2019
Ichthyosis is a heterogeneous group of rare genetic skin disorders characterized by furfuraceous and dry skin. The classification of ichthyosis has always been a challenging process as genodermatoses.
Evren Gumus
doaj   +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

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 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, G. M. Pertseva, V. V. Simrok   +2 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

Oral Lichenoid Lesions in Patients With Dyskeratosis Congenita: A Retrospective Case Series

Oral Diseases, EarlyView.
ABSTRACT Background Dyskeratosis congenita (DKC) is a rare inherited multisystem disorder primarily affecting the mucocutaneous and hematopoietic systems. Classically, it presents with the ectodermal triad of reticulate skin pigmentation, nail dystrophy, and oral leukoplakia.
Yehuda Zadik, Ori Finfter, Tevel Amiel, Amina Massarwa, Refael Cohen, Jawad Abu Tair, Anna Novikov, Polina Stepensky, Irina Zaidman, Ehud Even‐Or   +9 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
core  

Congenital Recessive Ichthyosis Unlinked to Loci for Epidermal Transglutaminases [PDF]

, 1996
Congenital recessive ichthyosis has a broad range of clinical presentations, which may be considered a spectrum of phenotypes with classic lamellar ichthyosis at one pole and classic congenital ichthyosiform erythroderma at the other.
Compton, John G., Lee, Minjoo L., DiGiovanna, John J., Russell, Laura J., Bale, Sherri J.   +4 more
core   +1 more source

Congenital Skin Sloughing in the Setting of Hydrops Fetalis Secondary to Congenital Diffuse Lymphangiectasia Mimicking Epidermolysis Bullosa

Pediatric Dermatology, EarlyView.
ABSTRACT We present a case where the combination of severe hydrops fetalis, lymphangiectasia, and skin desquamation created a clinical picture that masqueraded as epidermolysis bullosa (EB). A neonate presented at birth with severe hydrops fetalis and extensive skin sloughing.
Sophia Rafferty, Kate L. Wilson, Jennifer B. Mancuso, Nicole Larsen, Grace A. Osborne, Jacqueline Meadow   +5 more
wiley   +1 more source

New developments in the molecular treatment of ichthyosis: review of the literature

Orphanet Journal of Rare Diseases, 2022
Ichthyosis covers a wide spectrum of diseases affecting the cornification of the skin. In recent years, new advances in understanding the pathophysiology of ichthyosis have been made.
M. D. W. Joosten, J. M. K. Clabbers, N. Jonca, J. Mazereeuw-Hautier, A. H. Gostyński   +4 more
doaj   +1 more source