Results 31 to 40 of about 5,662 (212)

Congenital bilateral ectropion in lamellar ichthyosis

Oman Journal of Ophthalmology, 2011
Chandana Chakraborti, Partha Tripathi, Gautam Bandopadhyay, Dayal Bandhu Mazumder   +3 more
doaj   +3 more sources

A Rare Familial Case of Harlequin Ichthyosis in an Infant of a Diabetic Mother: A Diagnostic and Management Challenge in Low and Middle Income Settings. [PDF]

Clin Case Rep
ABSTRACT Harlequin Ichthyosis (HI) is an extremely rare, autosomal recessive, and highly fatal condition in neonates. It is especially difficult to control in the low‐ and middle‐income countries (LMICs) due to the low rate of prenatal screening, cultural reluctance, and lack of access to neonatal intensive care.
Zaeem M, Hassan AHMU, Javaid MH, Usman M, Ahmed M, Naveed MU, Al Aboud MY.   +6 more
europepmc   +2 more sources

The pH of the skin surface and its impact on the barrier function [PDF]

, 2006
The `acid mantle' of the stratum corneum seems to be important for both permeability barrier formation and cutaneous antimicrobial defense. However, the origin of the acidic pH, measurable on the skin surface, remains conjectural.
Abeck D, Barel AO, Blank HI, Bouwstra JA, Braun-Falco O, Chao SC, Dikstein S, Elias P, Elsner P, Epprecht R, Francomano MA, Gfatter R, Gfatter R, Hartmann AA, Heuss E, Keining E, Korting HC, Korting HC, Korting HC, Korting HC, Krien PM, Menon GK, Mucke H, Naissan O, Ohmann H, Rippke F, Runeman B, Schade H, Schirren CG, Schnyder UW, Schreiner V, Seidenari S, Sparavigna A, Talbert GA, Turner RB, Vahlquist A, Wickett RR, Wilhelm KP, Yosipovitch G, Yosipovitch G, Yosipovitch G, Zlotogorski A   +41 more
core   +1 more source

ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis. [PDF]

Anim Genet
Abstract Ichthyoses are a heterogenous group of inherited disorders that are characterized by excessive scale formation on the skin. We investigated a Chihuahua with severe scaling since age 12 weeks. The scaling was generalized and involved the entire body and legs. The paw pads were mildly hyperkeratotic.
Vinberg C, Rietmann SJ, Soto S, Jagannathan V, Åhman S, Leeb T.   +5 more
europepmc   +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

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan [PDF]

, 2019
Background Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified,
Ahmad, Jamil, Alabdulkareem, Adnan S., Alakloby, Omar Mohammed, Alawbathani, Salem, Alnutaifi, Kholood Abdulaziz, Altmüller, Janine, Borck, Guntram, Cunha, Dulce Lima, Eckl, Katja, Gruber, Robert, Hennies, Hans Christian, Kakar, Naseebullah, Krabichler, Birgit, Nurnberg, Peter, Plank, Roswitha, Schmuth, Matthias, Zschocke, Johannes   +16 more
core   +4 more sources

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

The importance of the lipoxygenase-hepoxilin pathway in the mammalian epidermal barrier [PDF]

, 2014
This review covers the background to discovery of the two key lipoxygenases (LOX) involved in epidermal barrier function, 12R-LOX and eLOX3, and our current views on their functioning.
Brash, Alan R., Keeney, Diane S., Muñoz-Garcia, Agustí, Thomas, Christopher P., Zheng, Yuxiang   +4 more
core   +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