harlequin ichthyosis


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ichthyosis

 [ik″the-o´sis]
any in a group of skin disorders characterized by increased or aberrant keratinization, resulting in dryness, roughness, and scaliness of the skin. Many different metaphors such as alligator, collodion, crocodile, fish, and porcupine skin have been used to describe the various types and stages of ichthyosis. Most ichthyoses are genetically determined, but some may be acquired and develop in association with systemic diseases or may be a prominent feature in certain genetic syndromes. The term is commonly used alone to refer to ichthyosis vulgaris. (See Atlas 2, Part L.) adj., adj ichthyot´ic.
ichthyosis conge´nita (congenital ichthyosis) lamellar exfoliation of newborn.
harlequin ichthyosis the ichthyosis affecting a harlequin fetus.
ichthyosis hys´trix a rare form of epidermolytic hyperkeratosis marked by generalized, dark brown, linear, wartlike ridges somewhat like porcupine skin.
lamellar ichthyosis a congenital, chronic form of ichthyosis present at birth, inherited as an autosomal recessive trait, in which the affected infant is born encased in a collodionlike membrane (see collodion baby) that is soon shed, the skin then becoming covered with large, coarse scales with involvement of all of the flexures as well as the palms and soles. Universal erythroderma and pruritus are characteristic, and ectropion of variable degree is usually present. Formerly called congenital ichthyosiform erythroderma (nonbullous type). (See Atlas 2, Part K.)
lamellar ichthyosis of newborn lamellar exfoliation of newborn.
ichthyosis linea´ris circumflex´a a congenital autosomal recessive disorder present at birth, characterized by the presence of generalized redness and scaling of the skin associated with migratory lesions and hyperhidrosis of the palms and soles.
ichthyosis vulga´ris the most common form of ichthyosis, inherited as an autosomal dominant trait, having an onset sometime after the first year of life, especially near puberty. There is prominent fine scaling, principally on the extensor surfaces of the extremities and back (the flexures are spared and there is little scaling of the abdomen and face), together with accentuated markings and creases on the palms and soles; atopy is often present.
X-linked ichthyosis a chronic form of ichthyosis affecting only males, transmitted as an X-linked recessive trait, that may be present at birth or appear in early infancy. It is characterized by the presence of prominent, very adherent scales, often brown, especially on the neck, extremities, trunk, and buttocks.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

har·le·quin ich·thy·o·sis

[MIM*242500]
a fetal form of ichthyosis thought to be distinct from lamellar ichthyosis, with plaques having a diamondlike shape resembling the suit of a harlequin character; the keratinocytes contain increased amounts of tonofibrils, which are fibrillar structural proteins; autosomal recessive inheritance.
Farlex Partner Medical Dictionary © Farlex 2012
A rare autosomal recessive [MIM 242500] disease of infants in which the baby is encased in a hyperkeratotic ‘coccoon’ with deep fissures, accompanied by ectropion. Harlequin ichthyosisis a severe dyskeratosis, caused by defective lipid metabolism; the stratum corneum is up to 30-fold thicker than the stratum malpighii; the stratum granulosa is decreased to a one-cell layer or absent
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Mui added: "Sometimes I feel like having Harlequin ichthyosis is a bit of a burden because sometimes I do wish I had ordinary skin.
Determining ineffective coping family due to family's not fulfilling the roles and responsibilities regarding the newborn with harlequin ichthyosis, it was targeted to support the family for the family members to be involved in the newborn's care process and for the parents to express their emotions about the situation.
Harlequin ichthyosis (HI) is a severe variant of autosomal recessive congenital ichthyosis resulting from loss-of-function mutations in the ABCA12 gene on chromosome 2q35.
Harlequin ichthyosis is also known as Harlequin baby syndrome/Harlequin fetus syndrome/ichthyosis congenita.
Patients with harlequin ichthyosis should be followed up in full-fledged intensive care units and with a multidisciplinary approach.
Most collodion babies survive to adulthood while few, if any, babies affected with harlequin ichthyosis survive the neonatal period.
MANY babies born with Harlequin ichthyosis do not survive beyond the womb.
Lucy had been born with Harlequin Ichthyosis, an extremely rare genetic skin condition that meant she was covered in thick plates of skin that caused deep cracks across her body and distorted her face and limbs.
Now aged just 32 she is the oldest person in the UK to have Harlequin Ichthyosis, a condition which sees her skin grow at ten times the normal rate.
With these findings clinically diagnosis of harlequin ichthyosis was made.
The term Harlequin Ichthyosis derives from newborns facial expression and the triangular and diamond shaped pattern of hyperkeratosis.