Harlequin ichthyosis (HI) is a rare congenital disease that primarily affects the skin. Its complications include syndactyly, which can cause severe constriction. Surgical release thought to be helpful, but details remain unclear due lack of data. We share our 5-year experience patient with HI successful outcomes from five syndactyly operations involving division, local flap interposition, and ...

Harlequin ichthyosis (HI) is a rare autosomal recessive congenital with an incidence of 1 in 300,000 live births. It lethal 44% cases and the baby usually prematurely born. These babies have thick, highly keratinized armor-like skin, which forms large diamond, trapezoid or rectangular plates separated by deep fissures. affect shapes eyelids, nose, mouth ears, also limit movement arms, legs ches...

The scaled skin of fish is a high-performance natural armor that represents a source of inspiration for novel engineering designs. In this paper, we present a biomimetic fish skin material, fabricated with a design and components that are simple, that achieves many of the advantageous attributes of natural materials, including the unique combination of flexibility and mechanical robustness. The...

Therapy for congenital ichthyoses remains unsatisfactory. Ichthyoses, characterized by barrier impairment with cutaneous erythema and scaling, share Th17 immune skewing, as in psoriasis, leading us to hypothesize that targeting IL-17A could reduce ichthyosis severity. Adults were randomized 1:1 receive 300 mg of secukinumab, an inhibitor, or placebo every 4 wks a 16-wk dual-center, double-blind...

Ichthyosis is a heterogeneous family of hereditary keratinisation disorders mostly characterized by variable erythema of the whole body and different scaling patterns. Although these disorders affect tissues of epidermal origin, there is little evidence regarding the oral and dental manifestations of Lamellar Ichthyosis. A case report of early childhood caries in lamellar ichthyosis is presente...

Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if int...

BACKGROUND Mutations in the gene encoding transglutaminase 1 (TG1) are responsible for various types of autosomal recessive congenital ichthyosis (ARCI), such as lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) and some minor variants of ARCI. A point mutation of R143C in the β-sandwich domain of TG1 has been often identified in patients with LI or CIE. OBJECTIVE To eluci...

Abstract Noncompact left ventricle is a rare congenital cardiomyopathy characterized by numerous ventricular trabeculae separated deep intertrabecular recesses. It can occur in isolation or association with neuromuscular disorders and heart defects. The cause not known but it thought to be due the arrest of normal maturation process myocardium. Among responsible mutations are taffazzine, ZASP d...