Results 11 to 20 of about 1,092,052 (189)

Expedient Treatment of a Collodion Baby [PDF]

Case Reports in Dermatological Medicine, 2011
Only ~270 cases of collodion babies have been reported in the literature since 1892. As the name suggests, the term “collodion baby” refers to a phenotype that can be characterized by a yellow, shiny, tight parchment-like membrane stretched over the skin.
Michael Chung, Jaime Pittenger, Stuart Tobin, Andrew Chung, Nirmala Desai   +4 more
doaj   +2 more sources

Myelodysplastic Syndrome Presenting as Amegakaryocytic Thrombocytopenia in a Collodion Baby

Journal of Investigative Medicine High Impact Case Reports, 2015
We report a rare case of myelodysplastic syndrome that presented early as amegakaryocytic thrombocytopenia in a collodion baby, which is a rare congenital disorder characterized by thick, taut membrane resembling oiled parchment or collodion, which is ...
Mohammed Al Pakra MD, Abdullah Al Jabri MD, Ehab Hanafy MD   +2 more
doaj   +2 more sources

Acral self-healing collodion baby: A case series [PDF]

International Journal of Women's Dermatology, 2016
Collodion baby is a term used to describe a phenotype characterized by the presence of a tight, translucent membrane that covers the entire skin at birth.
Bruno Ferrari, MD, Juan Pablo Martínez, MD, Paula Carolina Luna, MD, Margarita Larralde, PhD   +3 more
doaj   +2 more sources

Collodion Baby with TGM1 gene mutation

International Medical Case Reports Journal, 2015
Deepak Sharma,1 Basudev Gupta,2 Sweta Shastri,3 Aakash Pandita,1 Smita Pawar4 1Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, 2Department of Pediatrics, Civil Hospital, Palwal, Haryana, 3Department of Pathology, NKP ...
Sharma D, Gupta B, Shastri S, Pandita A, Pawar S   +4 more
doaj   +1 more source

Three Novel Mutations in ALOX12B Gene in Patients with Autosomal Recessive Congenital Ichthyosis from Turkey [PDF]

Dermatology Practical & Conceptual
Özge Zorlu , Semih Aşıkovalı
doaj   +2 more sources

Video Demonstration of ABCA12-Related Harlequin Ichthyosis in a Low-Resource Setting: Case Report and Review of Early Management Challenges. [PDF]

Clin Case Rep
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, Amaechi DC, Elendu TC, Amaechi EC, Elendu ID, Okolo EH, Uyanwune MC.   +6 more
europepmc   +2 more sources

Early Neonatal Death in Harlequin Ichthyosis: A Case Report and Literature Review. [PDF]

Clin Case Rep
ABSTRACT 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, Alatefi D, Alkabazi M, Alsaleh B, Fouad A, Al Oraby I.   +5 more
europepmc   +2 more sources

Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype

Life, 2021
Collodion baby is a congenital, transient phenotype encountered in approximately 70–90% of autosomal recessive congenital ichthyosis and is an important entity of neonatal erythroderma.
Pálma Anker, Norbert Kiss, István Kocsis, Éva Czemmel, Krisztina Becker, Sára Zakariás, Dóra Plázár, Klára Farkas, Balázs Mayer, Nikoletta Nagy, Márta Széll, Nándor Ács, Zsuzsanna Szalai, Márta Medvecz   +13 more
doaj   +1 more source

Type III CD38 is present in the membrane of neurosecretory vesicles and has a cytosol-facing catalytic domain in primate oxytocin neurons. [PDF]

J Neuroendocrinol
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, Matsushima A, Otubo A, Song C, Murata K, Oti T, Sakamoto H.   +6 more
europepmc   +2 more sources

A Rare Case Report of a Collodion Baby with Severe Hypernatremia [PDF]

Iranian Journal of Neonatology, 2017
Background: Collodion baby is a rare condition (i.e., 1:300000 birth), which is referred to a neonate covered with a tight and shiny membrane desquamating within two weeks.
Ahmad Farhat, Shadi Noorizadeh, Ashraf Mohamadzadeh, Reza Saeedi   +3 more
doaj   +1 more source