Results 31 to 40 of about 5,713 (219)

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis [PDF]

, 2012
Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be due to mutations, deletion or insertions. In this study,
Annicchiarico-Petruzzelli, M, Bui, L, Campione, E, Candi, E, Codispoti, A, Didona, B, Melino, G, Palombo, R, Serra, V, Sette, M, Talamonti, E, Terrinoni, A, Zambruno, G   +12 more
core   +1 more source

Dermatodendrosophy and dermatokarposophy – A bird's eye view

Clinical Dermatology Review, 2022
Dermatodendrosophy is defined to describe the relation between dermatology and the trees whereas Dermatokarposophy describes the connection between dermatology and fruits.
Anil Harishchandra Patki, Paras Choudhary   +1 more
doaj   +1 more source

Resolution of Pseudoainhum with Acitretin in Lamellar Ichthyosis

Nepal Journal of Dermatology, Venereology & Leprology
Lamellar ichthyosis is an autosomal recessive type of ichthyosis characterized by abnormal skin scaling, ectropion and ear abnormalities. Pseudoainhum is the appearance of constriction bands around digits which can lead to autoamputation of digits. Here
Srisukhirthi Sukumar, Nithiyaa Pavadai, Sheela Kuruvila   +2 more
doaj   +1 more source

Ocular complications of lamellar ichthyosis

Archives of Medicine and Health Sciences, 2018
Ichthyosis is a rare heterogeneous cutaneous disorder characterized by hyperkeratinization of the skin. They may be inherited or acquired following malnutrition, malignancy, or autoimmune disorders. Common forms of ichthyosis include lamellar ichthyosis (
Ibrahim Aliyu
doaj   +1 more source

Successful Treatment of Grade III Ectropion with Oral Acitretin in an Infant with Lamellar Ichthyosis: A Case Report

Indian Journal of Paediatric Dermatology
Lamellar ichthyosis, a severe form of congenital ichthyosis, is often complicated by ectropion that, if unmanaged, can result in permanent vision loss. We report a 5-month-old infant of lamellar ichthyosis with bilateral grade III ectropion treated with ...
Shreshthangsha Sayan Biswas, Rashid Shahid, Swetalina Pradhan   +2 more
doaj   +1 more source

Combined medical and surgical management for cicatricial ectropion in lamellar ichthyosis: A report of three cases

Indian Journal of Ophthalmology, 2020
Ichthyosis is a rare inherited skin disorder characterized by abnormal keratinization of the epidermis. Cicatricial ectropion is the most common ophthalmic feature of congenital ichthyosis.
Nirmala Subramanian, Pratheeba Devi Nivean, Md Shahid Alam   +2 more
doaj   +1 more source

Lamellar Ichthyosis with Rickets

Pakistan Journal of Medical Sciences, 2013
Lamellar ichthyosis (LI) is a rare genetic disorder with autosomal recessive inheritance. It is equally seen in both sexes and usually manifests at birth. The child presents as a collodion baby. The erythema is minimal or absent; but when present, it is maximum on the face. The scaling is generalized, accentuated on lower extremities and flexural areas.
Raafia, Ali, Shahbaz, Aman, Muhammad, Nadeem   +2 more
openaire   +2 more sources

Proteomic analysis of a filaggrin-deficient skin organoid model shows evidence of increased transcriptional-translational activity, keratinocyte-immune crosstalk and disordered axon guidance [PDF]

, 2019
Background: Atopic eczema is an itchy inflammatory disorder characterised by skin barrier dysfunction. Loss-of-function mutations in the gene encoding filaggrin ( FLG) are a major risk factor, but the mechanisms by which filaggrin haploinsufficiency ...
A Fabregat, A Naeem, A Sandilands, A Sandilands, B Kim, C Cole, C Cole, C Finan, C Flohr, C Hausmann, C He, C Lefèvre, C Palmer, C von Mering, D Szklarczyk, D Tobin, E Hoste, E Leclerc, E Rodriguez, E van den Bogaard, E van den Bogaard, F Smith, G Denecker, G McIlroy, H Alexander, H Baurecht, H Han, H Niehues, J Bergboer, J Folch, J Silverberg, J Timmerman, K Vávrová, L Paternoster, M Elias, M Elias, M Ferreira, M Kamsteeg, M Kretz, M Visser, N Novak, P Arkwright, P Di Meglio, P Gao, R Gruber, R Gruber, R Mateu, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Johansson, S Smith, S Weidinger, T Elango, T Gil, T Matsui, V Rothhammer, V van Drongelen, W Damsky, Y Dou, Y Lee, Y Perez-Riverol, Z Xie, Z Zhu   +69 more
core   +2 more sources

A distal region of the human TGM1 promoter is required for expression in transgenic mice and cultured keratinocytes [PDF]

, 2004
BackgroundTGM1(transglutaminase 1) is an enzyme that crosslinks the cornified envelope of mature keratinocytes. Appropriate expression of the TGM1 gene is crucial for proper keratinocyte function as inactivating mutations lead to the debilitating skin ...
CS Greenberg, S Jeon, M Huber, L Parmentier, LJ Russell, PM Elias, E Petit, BA Jessen, NL Parenteau, AM Jetten, MA Phillips, A Medvedev, K Yamada, BA Jessen, L Mariniello, RL Eckert, MA Phillips, JF Couse, MM Bradford, GF Murphy, RH Rice, RH Rice, JG Rheinwald, R Heimann, JG Rheinwald, BL Allen-Hoffmann, BA Jessen, CM Gorman, JD Dignam, MA Phillips, DA Tagle, B Lenhard, OM Mazina, RL Eckert, H van Bokhoven, H-J Song, D DiSepio, JF Crish, SM Thacher, EB Banks, DM Prowse, GT Park, S-I Jang, T-T Chen, D Apt, A Maatta   +45 more
core   +1 more source

Bilateral Congenital Upper Eyelid Eversion in Neonates with Lamellar Ichthyosis

TNOA Journal of Ophthalmic Science and Research
Background: Bilateral congenital upper eyelid eversion is a rare but visually alarming condition that presents at birth and is often associated with systemic disorders such as lamellar ichthyosis.
Sangameshwarayya B. Salimath, Saket Rajesh Gandhi, T. M. Poonam   +2 more
doaj   +1 more source