Results 101 to 110 of about 50,601 (205)

Triallelic Inheritance of TGM1 and ALOXE3 Mutations Associated with Severe Phenotype of Ichtyosis in an Iranian Family - A Case Report

Iranian Journal of Public Health, 2015
Lamellar ichthyosis is one form of congenital autosomal recessive ichthyosis. To date, seven causative genes for ARCI have been identified. To understand further the genetic spectrum of the disease, we analyzed a four-generation Iranian family with ARCI ...
Mohammad Taghi AKBARI, Mojgan ATAEI-KACHOUI   +1 more
doaj  

A Topic Diathesis In Hereditary Ichthyosis Patients Attending A Tertiary Health Care Center In Saudi Arabia

Indian Journal of Dermatology, 2004
The occurrence of atopic diathesis in hereditary ichthyosis (HI) has not been documented in Saudi patients. The atopic manifestations in histopathologically confirmed HI patients attending the dermatology clinic of king Fahad Hospital of the University ...
Al-Akloby Omar M Al-Amro
doaj  

A case of self-healing collodion baby

Przegląd Dermatologiczny, 2021
Aleksandra Kitowska, Piotr Brzeziński, Justyna Słomka, Mieczysława Karcz, Józef Jasonek   +4 more
doaj   +1 more source

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis Associated With Hirschsprung Disease and Bartter-Like Renal Manifestations. [PDF]

J Med Cases
Alqahtani JM.
europepmc   +1 more source

Real-World Effectiveness of Secukinumab in Congenital Ichthyoses: A Retrospective Monocentric Case Series. [PDF]

Antibodies (Basel)
Crespi O, Santaniello U, Cangialosi L, Bonvicino A, Ortoncelli M, Rosset F, Mastorino L, Ribero S, Quaglino P.   +8 more
europepmc   +1 more source

Dysregulated cholesterol metabolism in genodermatoses: implications for systemic disease and therapeutic strategies. [PDF]

Front Cell Dev Biol
Xiao Z, Kang Y, Li R, Tan Y.
europepmc   +1 more source

Novel Compound Heterozygous Variants in <i>TGM1</i> and <i>CYP4F22</i> in Two Newborns with Non-Syndromic Epidermal Differentiation Disorders (<i>TGM1</i>-nEDD and <i>CYP4F22</i>-nEDD). [PDF]

J Clin Med
Serra G, Barbera G, Antona V, Malizia D, Neri I, Perre E, Piccione M, Vetro A, Vancini A, Giuffrè M, Corsello G.   +10 more
europepmc   +1 more source

Ocular involvement in lamellar Ichthyosis

Indian Journal of Dermatology, Venereology, and Leprology, 2015
Amit, Gupta, Aniruddha, Agarwal, Jagat, Ram   +2 more
openaire   +2 more sources

Secukinumab for lamellar ichthyosis in an adolescent: a case report. [PDF]

Transl Pediatr
Li L, Wei F.
europepmc   +1 more source

Defining Histological Patterns in Inherited Ichthyoses: Toward a Diagnostic Algorithm Based on 66 Confirmed Cases. [PDF]

Dermatopathology (Basel)
Süßmuth K, Oji V, Bodes J, Jochum I, Muhs F, Komlosi K, Hausser I, Schmuth M, Traupe H, Fischer J, Metze D.   +10 more
europepmc   +1 more source