Results 51 to 60 of about 19,609 (184)
Harlequin ichthyosis, prenatal diagnosis: the ultrasound recognition. [PDF]
BMJ Case RepHarlequin ichthyosis (HI) is an extremely rare disease with a prevalence of less than 1/300 000 live newborns and no more than 100 cases reported worldwide.
González RA +3 more
europepmc +2 more sources
Harlequin Ichthyosis: a rare congenital dermatological disorder [PDF]
, 2017 Harlequin Ichthyosis is the most severe form of congenital Ichthyosis presenting at birth. It is a very rare disorder with autosomal recessive inheritance. Perinatal mortality is high and the survivors develop severe erythroderma subsequently.
Mehrotra, Manju +3 more
core +1 more source
Prenatal Ultrasound Diagnosis of Harlequin Ichthyosis. [PDF]
J Obstet Gynaecol IndiaAggarwal S +4 more
europepmc +2 more sources
Ichthyosis (concept, pathohistology, clinical picture, treatment)
Vestnik Dermatologii i Venerologii, 2021 Ichthyosis is a skin disease that is hereditary, has pronounced symptoms in the form of a violation of the skin, and the presence of formations resembling fish scales.
Tatyana Gennadyevna Takhtarova +3 more
doaj +1 more source
A Unique Preparation and Delivery Method for Acitretin for Neonatal Harlequin Ichthyosis. [PDF]
J Pediatr Pharmacol Ther, 2018 Harlequin ichthyosis is a rare form of congenital ichthyosis with a distinct phenotypic appearance. We describe a case of a newborn baby with harlequin ichthyosis who was treated with an oral formulation of acitretin.
Damodaran K, Bhutada A, Rastogi S.
europepmc +2 more sources
Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling
Acta Dermato-Venereologica, 2021 Data on vitamin D status of patients with inherited ichthyosis in Europe is scarce and unspecific concerning the genetic subtype. This study determined serum levels of 25-hydroxyvitamin D3 (25(OH)D3) in 87 patients with ichthyosis; 69 patients were ...
Mi-Ran Kim +12 more
doaj +1 more source
Collodion Baby: A Clinical Enigma [PDF]
Indian Journal of Neonatal Medicine and Research, 2019 Collodion baby is a term used for neonates in whom the body surface is covered by thick skin sheets, appearing like a translucent, tight parchment paper.
Sonam Singh +4 more
doaj +1 more source
Harlequin fetus: A case report
Indian Journal of Pathology and Microbiology, 2022 Harlequin ichthyosis (HI) is the most severe type of congenital ichthyosis. It is extremely rare with very few cases reported in India. It is inherited in an autosomal recessive fashion. The importance of antenatal diagnosis by ultrasonography, DNA-based
Mangesh Machindra Londhe +2 more
doaj +1 more source
Harlequin ichthyosis: a rare genetic dermatosis in Nigeria
PAMJ Clinical Medicine, 2020 Harlequin ichthyosis (HI) is a rare genetic skin disorder characterized by dry, thickened, scaly, fish-like skin with an autosomal recessive inheritance pattern. It is the severest form of ichthyosis and is associated with poor survival. We report a case
Blessing Kene-Udemezue +7 more
doaj +1 more source
Ichthyosis congenita, harlequin type: A case report and a brief review of literature
Indian Journal of Paediatric Dermatology, 2016 Harlequin ichthyosis (HI) is the most severe type of congenital ichthyosis, and it is extremely rare. It is inherited in an autosomal recessive fashion.
Veeresh V Dayavannavar +3 more
doaj +1 more source