Results 11 to 20 of about 77,663 (151)

Harlequin ichthyosis: Case report

Journal of Research in Medical Sciences, 2013
Harlequin fetus is a rare and the most severe form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births.
Shahrbanoo Salehin, Ahmad Azizimoghadam, Abdolghani Abdollahimohammad, Mohammad Babaeipour-Divshali   +3 more
doaj   +1 more source

Harlequin Fetus

Annals of Saudi Medicine, 1991
Ichthyosiform dermatazlar klinik olarak kuru ve soyulan deri ile karakterli bir deri hastalığı grubudur. Harlequin fetus tüm ichthyosislerden en ağır şeklidir, nadir görülür ve otosomal resesif geçer.
M, Shuja, A, Abanamy, A K, Rashid, D, Roy   +3 more
openaire   +3 more sources

Harlequin Ichthyosis in a Preterm Neonate: A Rare Case Report. [PDF]

Clin Case Rep
ABSTRACT A condition known as harlequin ichthyosis appears rarely, marked by intense abnormalities in skin development due to inherited changes in the ABCA12 gene. This leads to major issues with the outer layer of skin, forming hard, plate‐like coverings split by wide cracks.
Ali T, Javaid MH, Siddique MW, Abebe HT, Ul Haq I, Ali E, Ali Z, Afridi NA, Iqbal M.   +8 more
europepmc   +2 more sources

Hypoxylon howeanum (Harlequin Woodwart)

, 2020
Hypoxylon howeanum (Harlequin Woodwart) 6/22/2020 Group: Fungi Type: Ascomycota Family: Hypoxylaceae Notes Common Name: Harlequin Woodwart Years Noted: 2018; 2020; 2022 Identified and First Noted By: Nur Ritter Comments: Note: the common name was ...
Ritter, Nur
core   +11 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

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

Harlequin Ichthyosis: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Harlequin ichthyosis (HI) is a genetic disorder caused by ABCA12 gene mutations, presenting with thick, scaly skin and deep fissures. Early recognition, intensive neonatal care, and multidisciplinary management are crucial for improving survival and quality of life. Treatment focuses on skin hydration, infection prevention, and supportive care
Akhtar S, Anwaar A, Haq IU, Mukhtar H, Jamal S, Muzammil M, Akilimali A.   +6 more
europepmc   +2 more sources

Defying the Odds: A Case of Successfully Treated Harlequin Ichthyosis in Lebanon. [PDF]

Clin Case Rep
ABSTRACT Harlequin ichthyosis is a rare skin disorder affecting newborns characterized by a scaly skin, flexed limbs, ectropium, and eclabium. The overall incidence of HI is 1 in 300,000 births, with approximately only 200 cases reported worldwide. Some studies uncovered a TH17 immune skewing in patients with HI, which is also seen in psoriasis.
Hamam B, Saleh S, Yaacoub M, Chebbo H, Jalloul S, Karam K, Houmani R.   +6 more
europepmc   +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

Clinical Diagnosis and Management Challenges of Harlequin Ichthyosis in a Preterm Neonate: A Case Report From Uganda. [PDF]

Case Rep Dermatol Med
Introduction: Harlequin ichthyosis is a rare autosomal recessive genetic disorder resulting from mutations in the ABCA12 gene. It is marked by distinctive skin abnormalities, including armor‐like thickened scales separated by deep fissures. This condition is infrequently reported in the African population.
Turyasiima M, Mohamed DM, Yusuf HM, Nakalema G, Akot BG, Kyoshabire J, Mutagamba S, Kimono GG, Duca JE, Makongwa I.   +9 more
europepmc   +2 more sources