Results 1 to 10 of about 4,149 (172)

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

Identification of Novel Mutation in the <i>ABCA12</i> Gene Causing Harlequin Ichthyosis. [PDF]

Clin Case Rep
ABSTRACT 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, Bayati Z, Soosanabadi M, Zamani A, Lotfi A, Gholami M.   +5 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

Multimodal Anterior Segment Imaging of Severe Mixed Exposure-Related Neurotrophic Keratopathy with Marked Corneal Thinning in Lamellar Ichthyosis [PDF]

Diagnostics
Lamellar ichthyosis is a rare congenital disorder of keratinization frequently associated with ocular complications, most commonly cicatricial ectropion and exposure keratopathy.
Wojciech Luboń, Małgorzata Luboń, Mariola Dorecka   +2 more
doaj   +2 more sources

Lamellar Ichthyosis in a Resource-Limited Setting: A Somaliland Case Report [PDF]

International Medical Case Reports Journal
Mohamed Osman Aw Hashi,1,2 Ahmed M Derie,3 Sadam Ismail Ahmed4 1College of medicine and surgery, University of Hargeisa, Hargeisa, Somaliland; 2Department of Dermatology and Venereology, Hargeisa Group Hospital, Hargeisa, Somaliland; 3Department of ...
Aw Hashi MO, Derie AM, Ahmed SI
doaj   +2 more sources

ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis. [PDF]

Vet Dermatol
ABSTRACT Background Ichthyosis fetalis (IF), also known as harlequin ichthyosis, is a rare and often fatal autosomal recessive congenital skin disorder. It is characterized by thickened, hard skin plaques and deep skin fissures that limit mobility and cause malformations of the eyes, lips and ears.
Blake JM, Swan MP, Ekenstedt KJ.
europepmc   +2 more sources

A Rare Familial Case of Harlequin Ichthyosis in an Infant of a Diabetic Mother: A Diagnostic and Management Challenge in Low and Middle Income Settings. [PDF]

Clin Case Rep
ABSTRACT Harlequin Ichthyosis (HI) is an extremely rare, autosomal recessive, and highly fatal condition in neonates. It is especially difficult to control in the low‐ and middle‐income countries (LMICs) due to the low rate of prenatal screening, cultural reluctance, and lack of access to neonatal intensive care.
Zaeem M, Hassan AHMU, Javaid MH, Usman M, Ahmed M, Naveed MU, Al Aboud MY.   +6 more
europepmc   +2 more sources

Genu Valgum and Lamellar Ichthyosis: Insights into a Rare Presentation [PDF]

Journal of Orthopaedic Case Reports
Introduction: The main way that the skin produces Vitamin D, which is necessary for calcium metabolism and skeletal health, is through exposure to ultraviolet B rays.
Ajay Dodeja, Kirtee Meshram, Sushil Pande, Yash Shewale, Ruchika Nevse   +4 more
doaj   +2 more sources

ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis. [PDF]

Anim Genet
Abstract Ichthyoses are a heterogenous group of inherited disorders that are characterized by excessive scale formation on the skin. We investigated a Chihuahua with severe scaling since age 12 weeks. The scaling was generalized and involved the entire body and legs. The paw pads were mildly hyperkeratotic.
Vinberg C, Rietmann SJ, Soto S, Jagannathan V, Åhman S, Leeb T.   +5 more
europepmc   +2 more sources

Lamellar ichthyosis: a case report

The Turkish Journal of Pediatrics, 2002
Ichthyoses are divided into four groups according to clinical, histopathologic and genetic findings. Lamellar ichthyosis is one of them. The incidence of lamellar ichthyosis is believed to be approximately 1 per 100,000 to 300,000 live births.
Hamit Ozyürek, Ayşe Kavak, Murat Alper
doaj   +3 more sources