Results 51 to 60 of about 77,152 (265)
Treatment of Lamellar Ichthyosis in a 10‐Year‐Old Child With Secukinumab [PDF]
Journal of Paediatrics and Child HealthRoberto Mazzetto +4 more
openalex +2 more sources
Dermatology Online Journal, 2005 A 6-year-old African boy with a history of a collodion membrane presented with scale in a generalized distribution and flexural accentuation. Large, brown, polygonal scales were present on the forehead, lateral aspects of the face, and extremities. The nature of the scales and the lack of erythroderma in this patient are consistent with a mild form of ...
Victor, Frank, Schaffer, Julie V
openaire +4 more sources
Complexity of dental management of a pediatric patient with lamellar ichthyosis: case report
Research, Society and Development, 2023 The purpose of this case report is to describe the complexity of dental management of a pediatric patient with lamellar ichthyosis. A 9-year-old male patient was referred by the pediatrician to the special needs’ clinic with a major complaint of "tooth ...
G. F. Rodrigues +5 more
semanticscholar +1 more source
ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis. [PDF]
Anim GenetAbstract 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 +5 more
europepmc +2 more sources
CEDNIK: Phenotypic and molecular characterization of an additional patient and review of the literature [PDF]
, 2017 Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In
Coughlin, Carrie C +6 more
core +3 more sources
Congenital bilateral ectropion in lamellar ichthyosis
Oman Journal of Ophthalmology, 2011 Chandana Chakraborti +3 more
doaj +3 more sources
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 +12 more
core +1 more source
Distinguishing ichthyoses by protein profiling.
PLoS ONE, 2013 To explore the usefulness of protein profiling for characterization of ichthyoses, we here determined the profile of human epidermal stratum corneum by shotgun proteomics.
Robert H Rice +7 more
doaj +1 more source
Collodion Baby: A Clinical Enigma [PDF]
Indian Journal of Neonatal Medicine and Research, 2019 Collodion baby is a term used for neonates in whom the body surface is covered by thick skin sheets, appearing like a translucent, tight parchment paper.
Sonam Singh +4 more
doaj +1 more source
Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review [PDF]
, 2015 Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article,
Cepeda-Valdés, Rodrigo +7 more
core +2 more sources