Results 21 to 30 of about 50,601 (205)
Identification of Novel Mutation in the <i>ABCA12</i> Gene Causing Harlequin Ichthyosis. [PDF]
Clin Case RepABSTRACT Harlequin ichthyosis (HI) is an uncommon and extremely severe hereditary condition that primarily affects the skin. Infants born with this disorder display dense skin and prominent diamond‐shaped plates that cover a significant portion of their bodies.
Soltani N +5 more
europepmc +2 more sources
Early Neonatal Death in Harlequin Ichthyosis: A Case Report and Literature Review. [PDF]
Clin Case RepABSTRACT Harlequin ichthyosis is a rare, life‐threatening neonatal disorder often mistaken for collodion baby. We report a 37‐week neonate with severe ectropion, eclabium, and thick fissured scales who died on Day 2 despite optimal care. This case highlights the diagnostic challenges, intensive management needs, and poor prognosis of Harlequin ...
Alanzi A +5 more
europepmc +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
Lamellar Ichthyosis with Bilateral Ectropion [PDF]
, 2016 Lamellar ichthyosis is a rare congenital disorder with ocular manifestation resulting from the cicatrization of anterior lamella of eyelids. Early diagnosis and management of ectropion can prevent the most severe complications such as severe dry eyes ...
Sharma, Reena +4 more
core +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 +2 more
openaire +2 more sources
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
Familial Lamellar Ichthyosis in 6 Years Old and 2 Years Old Children: A Rare Case Report [PDF]
, 2023 Background: Lamellar ichthyosis (LI) is a rare non-syndromic congenital ichthyosis and is autosomal recessive. LI patients are generally born with abnormalities of keratinization, then develop into lamellar scales and persist into adulthood.
Suci Widhiati +2 more
core +1 more source
Oral Manifestation of Autosomal Recessive Congenital Ichthyosis in a 2-Year-Old Patient
Case Reports in Dentistry, 2014 Ichthyosis is a heterogeneous family of hereditary keratinisation disorders mostly characterized by variable erythema of the whole body and different scaling patterns.
Kavitha Ramar +5 more
doaj +1 more source
Lamellar Icthyosis – A case Report [PDF]
Journal of Clinical and Diagnostic Research, 2014 Autosomal recessive congenital ichthyosis is a heterogenous group of disorders that are present at birth with generalized involvement of skin and lack of other organ systems.
Pranitha V +3 more
doaj +1 more source