Results 141 to 150 of about 19,609 (184)

Harlequin Ichthyosis

Skinmed, 2011
A 2-hour-old newborn boy hospitalized in the neonatal intensive care unit was examined for unusual cutaneous lesions. He had firm plaques covering his body, with fissures especially in flexural areas. Other remarkable findings included edematous hands and feet, ectropion, eclabium, and contractures (Figure).
David P. Kelsell
exaly   +5 more sources

Harlequin Ichthyosis: A Case Study

Neonatal Network, 2004
The most severe manifestation of congenital ichthyosis presents itself in the form known as harlequin ichthyosis. Harlequin ichthyosis is characterized by a profound thickening of the fetal skin. Affected infants are born with a thick “horny shell” of dense, waxy, platelike scales with deep, irregular fissures covering the body.
Laura, Murphy-Brown, Judith A, Vella, Phylls, Lawlor-Klean   +2 more
openaire   +3 more sources

A Review of Harlequin Ichthyosis

Neonatal Network, 2005
Harlequin ichthyosis is an extremely rare and historically lethal congenital disorder of the skin caused by abnormal keratinization. This article reviews the embryology and currently understood pathophysiology of the disease, as well as current methods used to diagnose and treat these infants.
Lt. Jason Layton
openaire   +3 more sources

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Prenatal diagnosis of harlequin ichthyosis

Clinical Genetics, 1980
We report the successful prenatal diagnosis of ichthyosis in the fetus of a woman whose previous liveborn child was affected with “harlequin ichthyosis”. The fetal diagnosis was established through analysis of ultrasonographically guided fetoscopic skin biopsies.
Nancy B Esterly, Sherman Elias, S Elias
exaly   +3 more sources

Harlequin ichthyosis — A case report

Pathology, 1995
The Harlequin infant represents the most severe form of nonbullous ichthyosis. Although the clinical features of infants with Harlequin ichthyosis are generally similar, histological, ultrastructural, and biochemical analyses have not shown consistent findings.
Jane E. Dahlstrom, Sanjiv Jain, L Maxwell   +2 more
exaly   +3 more sources

Harlequin ichthyosis — difficulties in prenatal diagnosis

Journal of Applied Genetics, 2006
Ichthyoses belong to the group of genodermatoses, characterized by hyperkeratosis and desquamation of the epidermis. Clinical manifestation is heterogeneous and depends on the type of the disease. Harlequin foetus is the most severe form of congenital ichtyosis, inherited as an autosomal recessive trait.
Katarzyna, Zapałowicz, Grazyna, Wygledowska, Tomasz, Roszkowski, Alicja, Bednarowska   +3 more
exaly   +3 more sources

Improving outcomes for harlequin ichthyosis

Journal of the American Academy of Dermatology, 2013
Leonard Milstone, Keith A Choate
exaly   +3 more sources

Management of harlequin ichthyosis in low-income countries [PDF]

Annals of Tropical Paediatrics, 2011
Rossi, G, D Mesia, Mesia, D, G Rossi
exaly   +2 more sources

Harlequin Ichthyosis: A Surgical Perspective

Pediatric Dermatology, 2016
AbstractLimb constriction or encasement in patients with harlequin ichthyosis can cause tissue injury resulting in necrosis and auto‐amputation. Surgical release of constrictive plaques has been previously demonstrated, but the perioperative and intraoperative considerations surrounding this infrequent intervention have not been discussed in detail ...
Mitchell A, Pet, Deepti, Gupta, Raymond W, Tse   +2 more
openaire   +2 more sources

HARLEQUIN ICHTHYOSIS TWO CASE REPORTS OF A VERY RARE CASE FROM A RURAL TERTIARY CARE TEACHING CENTER OF SOUTH WEST BIHAR

Indian Journal Of Applied Research, 2023
Harlequin ichthyosis (HI) is a rare type of congenital ichthyosis.It is associated with poor survival. Although previously thought to be lethal, there are reports of prolonged survival, following improved 1 supportive care and judicious use of systemic ...
Piush Raj, Anupama Singh, B. Singh, O. P. Singh   +3 more
semanticscholar   +1 more source