A Newborn with Icthyosis, Corpus Callosum Hypoplasia, Microcephaly, Atrichia and Intra Uterine Growth Retardation (IUGR): AVariant of Icthyosis Follicularis Atrichia Photophobia (IFAP) or Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Deformities, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate, Cryptorchidism (BRESHECK)? [PDF]
Journal of Krishna Institute of Medical Sciences University, 2017 A full term newborn small for gestational age Intra Uterine Growth Retardation (IUGR) admitted with congenital dysmorphic features with icthyosis, atrichia, microcephaly and eye abnormalities, when explored further for other congenital malformations,
Gurudutt S. Joshi +2 more
doaj
Paraparesia espástica como manifestação inicial da ataxia espinocerebelar do tipo 7 [PDF]
, 2008 Conselho Nacional de Pesquisa (CNPq)(FAEPA) Fundação de Apoio ao Ensino, Pesquisa e Assistência do Hospital das Clínicas da Faculdade de Medicina de Ribeirão ...
CASTRO, José Daniel Vieira +5 more
core +2 more sources
Characterization of Two Distinct Structural Classes of Selective Aldehyde Dehydrogenase 1A1 Inhibitors. [PDF]
, 2015 Aldehyde dehydrogenases (ALDH) catalyze the irreversible oxidation of aldehydes to their corresponding carboxylic acid. Alterations in ALDH1A1 activity are associated with such diverse diseases as cancer, Parkinson?s disease, obesity, and cataracts ...
Hurley, Thomas D., Morgan, Cynthia A.
core +1 more source
Oral Manifestation of Autosomal Recessive Congenital Ichthyosis in a 2‐Year‐Old Patient
Case Reports in Dentistry, Volume 2014, Issue 1, 2014., 2014 Ichthyosis is a heterogeneous family of hereditary keratinisation disorders mostly characterized by variable erythema of the whole body and different scaling patterns. Although these disorders affect tissues of epidermal origin, there is little evidence regarding the oral and dental manifestations of Lamellar Ichthyosis.
Kavitha Ramar +6 more
wiley +1 more source
Hypothyroidism Presenting As Sever Icthyosis and Acanthosis Nigricans
Journal of Medical Science and Clinical Research, 2017 exaly +2 more sources
Clinical and Translational Medicine, Volume 2, Issue 1, December 2013., 2013 Abstract Background Previous studies of epidermal kinetics in psoriasis have relied on invasive biopsy procedures or the use of radioactive labels. We previously developed a non‐invasive method for measuring keratin synthesis in human skin using deuterated water labeling, serial collection of tape strips and measurement of deuterium enrichment in ...
Claire L Emson +7 more
wiley +1 more source
Indian Dermatology Online Journal, 2013 The present report describes the condition in a three day old male child with bilateral ,linear, hyperpigmented and hyperkeratotic verrucous plaques and patchy alopecia over scalpe without any nail and skeletal abnormalities.
Surajit Nayak +2 more
doaj +1 more source
Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis. [PDF]
, 2016 Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the mouse Abca12 gene that leads to the loss of a 5' splice donor site and truncation of the ...
Chen, J. +12 more
core +4 more sources
International Journal of Hepatology, Volume 2011, Issue 1, 2011., 2011 Chanarin‐Dorfman syndrome is a rare, inherited metabolic disorder of neutral lipid storage characterized by ichthyosis, lipid vacuoles in leukocytes, and involvement of several internal organs, mostly the liver. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported, and the majority were from Middle East countries ...
Özdal Ersoy +5 more
wiley +1 more source
Harlequin ichthyosis in an African child: Case report [PDF]
, 2012 Severe congenital skin abnormalities are a rare event. This case is unique in that it is a case of harlequin ichthyosis in sub-sahara Africa in a child of African origin and elaborates the challenges faced in its management.
Gatinu, BW +8 more
core +2 more sources