Video Demonstration of ABCA12-Related Harlequin Ichthyosis in a Low-Resource Setting: Case Report and Review of Early Management Challenges. [PDF]
ABSTRACT Harlequin ichthyosis is a rare, life‐threatening neonatal dermatologic emergency that can be confidently diagnosed clinically at birth. Prompt recognition and early supportive management—including thermoregulation, fluid balance, infection prevention, and intensive skin care—are crucial determinants of survival, especially in low‐resource ...
Elendu C +6 more
europepmc +2 more sources
Acute management of constriction bands in a newborn with collodion membrane with early manual release [PDF]
Ania Stolarczyk, BS +3 more
doaj +2 more sources
Background: Digital pathology has been increasingly implemented for primary surgical pathology diagnosis. In our institution, digital pathology was recently deployed in the gynecologic (GYN) pathology practice.
Iny Jhun +11 more
doaj +1 more source
A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma. [PDF]
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Cuperus E +7 more
europepmc +2 more sources
Dupilumab for Trichothiodystrophy-Case Report and Review of the Literature. [PDF]
ABSTRACT Trichothiodystrophy (TTD) arises from pathogenic changes in several genes, most of which participate in DNA repair or transcriptional and translational processes. Atopic dermatitis may accompany TTD in a minority of cases. Dupilumab can offer a safe and effective treatment option for severe atopic dermatitis in this population.
O'Mahony J, O'Connor C.
europepmc +2 more sources
Type III CD38 is present in the membrane of neurosecretory vesicles and has a cytosol-facing catalytic domain in primate oxytocin neurons. [PDF]
Abstract CD38, an ADP‐ribosyl cyclase that generates cyclic ADP‐ribose (cADPR), is essential for Ca2+‐dependent oxytocin release. However, its subcellular localisation and membrane topology within oxytocin neurones have remained unclear. We investigated the distribution and orientation of CD38 in oxytocin‐producing neurones of Japanese macaques (Macaca
Miyamoto T +6 more
europepmc +2 more sources
Three Novel Mutations in ALOX12B Gene in Patients with Autosomal Recessive Congenital Ichthyosis from Turkey [PDF]
Özge Zorlu , Semih Aşıkovalı
doaj +2 more sources
Collodion baby with polydactyly
Iffat Hassan +2 more
doaj +3 more sources
Lamellar ichthyosis or non-bullous congenital ichthyosis is an inherited autosomal recessive genodermatosis with a prevalence of 1 in 300,000 live births. The affected child is born with a tight, clear sheath covering their skin called a collodion membrane, that usually dries and peels off during the first few weeks of life, and then it becomes obvious
Vinoth Kumar Perumal +1 more
openaire +3 more sources

