Results 71 to 80 of about 10,016 (183)

Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother

SAGE Open Medical Case Reports
We present the cases of two brothers with ichthyosis, born to consanguineous parents, with the eldest having extracutaneous manifestations in the form of microphthalmia and corneal opacities causing complete blindness.
Rachel L Aubry, A. Micheil Innes, Richard M Haber   +2 more
doaj   +1 more source

ASPRV1R208M in a patient with a nonsyndromic epidermal differentiation disorder/ichthyosis

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Wei Wang, Hiram Larangeira de Almeida, Kilian Eyerich, Cristina Has   +3 more
wiley   +1 more source

Bullae and Scales in a Newborn

JEADV Clinical Practice, Volume 5, Issue 2, Page 719-721, June 2026.
Hamad El Hajj, Dima Jeha, Andre Megarbane, Hala Megarbane   +3 more
wiley   +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

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

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  

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

Topical N-acetylcysteine treatment in neonatal ichthyosis

The Turkish Journal of Pediatrics, 2003
Unpredictable trancutaneous absorption of topically administered drugs and potential teratogenicity and toxicity of systemic drugs would make it mandatory to innovate more efficacious and less toxic drugs for the treatment of ichthyosis, which is ...
S Umit Sarici, Murat Sahin, Murat Yurdakök   +2 more
doaj  

First successful treatment of epidermolytic Ichthyosis with Vunakizumab: A Case Report

Frontiers in Immunology
Ichthyoses, a group of skin cornification disorders caused by protein and lipid abnormalities that disrupt epidermal functions, are mainly characterized by generalized scaling.
Wenjie Cheng, Wenjie Cheng, Wenjie Cheng, Chaolan Pan, Chaolan Pan, Chaolan Pan, Zhe Sun, Zhe Sun, Zhe Sun, Peiyi Sun, Peiyi Sun, Peiyi Sun, Jiawen Li, Jiawen Li, Jiawen Li, Zhirong Yao, Zhirong Yao, Zhirong Yao, Xiaoxiao Wang, Xiaoxiao Wang, Xiaoxiao Wang, Jia Zhang, Jia Zhang, Jia Zhang   +23 more
doaj   +1 more source

Spontaneous corneal perforation in a patient with lamellar ichthyosis and dry eye

Clinical Ophthalmology, 2009
Burak Turgut1, Orhan Aydemir1, Murat Kaya1, Peykan Türkçüog? lu2, Tamer Demir1, Ülkü Çeliker11Firat University School of Medicine, Department of Ophthalmology, Elazig, Turkey; 2Inonu University ...
Burak Turgut, Orhan Aydemir, Murat Kaya, et al   +3 more
doaj