Results 91 to 100 of about 19,609 (184)
Characteristic Morphologic Abnormality of Harlequin Ichthyosis Detected in Amniotic Fluid Cells [PDF]
, 1994 We have examined cells from amniotic fluid obtained at 17 and 21 weeks' gestation and fetal skin biopsy samples from a fetus at risk of harlequin ichthyosis by light and electron microscopy.
Otto, Carl E. +4 more
core +1 more source
ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids
, 2019 Harlequin ichthyosis (HI) is associated with high mortality. Early systemic retinoids are widely used, although their use remains debatable. We reported two neonates with homozygous mutations in ABCA12 consistent with harlequin ichthyosis who survived to
Sharma, Amit +6 more
core +1 more source
A Case of Harlequin Ichthyosis
Nishi Nihon Hifuka, 2011 在胎38週，女児。出生前の超音波検査にて，顔貌より道化師様魚鱗癬を疑われ，帝王切開にて出生した。全身の皮膚表面が厚い板状の角質に覆われており，著明な眼瞼外反，口唇突出開口，耳介の変形を認め，その特徴的な臨床像から道化師様魚鱗癬と診断した。組織所見では著明な角質増殖を認め，電子顕微鏡検査にて角層の細胞質内に多量の脂肪滴の蓄積を認めた。遺伝子検査では，父親はABCA 12 遺伝子にミスセンス変異をヘテロで2つ有しており，患児には同様の変異がホモで認められた。母親には明らかな変異を認めなかった。出生当日よりエトレチナートの投与を開始し，局所処置としてワセリン外用と，角質除去を行った。その後，徐々に角質は減少し，眼瞼の外反も改善した。生後2年9ヵ月となる現在，皮膚の潮紅を認めているが ...
ITO, Yukako +8 more
openaire +1 more source
Ichthyosis Prematurity Syndrome: A Systematic Review of the Literature
Pediatric Dermatology, Volume 42, Issue 4, Page 747-753, July/August 2025.ABSTRACT Background/Objectives Ichthyosis prematurity syndrome (IPS) is a rare autosomal recessive congenital disorder characterized by premature birth, neonatal respiratory distress, eosinophilia, and a thick, clay‐like vernix at birth. This review aims to summarize the available reported cases of IPS, including genetic etiology, clinical features ...
Grace X. Li +3 more
wiley +1 more source
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Edwin Cuperus +7 more
wiley +1 more source
Ichthyosis Fetalis in a Lacaune Lamb
Veterinary Medicine and Science, Volume 11, Issue 3, May 2025.The study was aimed at reporting the occurrence of ichthyosis in a lamb. A male Lacaune lamb was born alive but was unable to stand, remained in lateral recumbency and died 12 h after birth. Skin abnormalities included generalized hyperkeratosis. In histopathological investigation of the cutaneous lesions, there was moderate‐to‐severe thickening of the
Arman Shokri +2 more
wiley +1 more source
Harlequin Ichthyosis – Genetic and Dermatological Challenges: A Case Report and Literature Review
International Journal of BiomedicineHarlequin ichthyosis (HI) is an extremely rare and severe genetic skin disorder characterized by thick, diamond-shaped scales covering the body, often giving the appearance of a harlequin costume.
B. Elshani +3 more
semanticscholar +1 more source
Bullying in Children With Congenital Ichthyosis
Pediatric Dermatology, Volume 42, Issue 3, Page 499-505, May/June 2025.ABSTRACT Background/Objectives Bullying of children with chronic disorders is associated with an increased risk of depression, anxiety, poor self‐esteem, and suicidal ideation. Congenital ichthyoses are genodermatoses with extensive visible scaling and inflammation.
Andrea M. Rustad +6 more
wiley +1 more source
Harlequin ichthyosis: A case report Harlequin iktiyozis: Bir olgu sunumu
, 2007 Harlequin ichthyosis represents the most severe form of nonbullous ichthyosis. It is inherited in an autosomal recessive pattern and very rare. This disease destroys the skin's barrier system and severe cutaneous infections develop in affected newborns ...
Can, Önder +4 more
core
Quality of life in Swedish children with congenital ichthyosis
Dermatology Reports, 2010 Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their ...
Agneta Gånemo
doaj +1 more source