Harlequin-type ichthyosis

harlequin ichthyosisharlequin type ichthyosisharlequinismichthyosis congenita
Harlequin-type ichthyosis is a genetic disorder which results in thickened skin over nearly the entire body at birth.wikipedia
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Ectropion

The eyelids may be everted (ectropion), which leaves the eyes and the area around them very susceptible to infection.
It is one of the notable aspects of newborns exhibiting congenital Harlequin-type ichthyosis, but ectropion can occur due to any weakening of tissue of the lower eyelid.

ABCA12

Harlequin-type ichthyosis is due to mutations of the ABCA12 genes.
Several mutations in the ABCA12 gene are known to cause harlequin-type ichthyosis.

Isotretinoin

13-cis retinoic acid13-cis-retinoic acidAccutane
However, improved neonatal intensive care and early treatment with oral retinoids, such as the drug Isotretinoin (Isotrex), may improve survival.
It is used to treat harlequin-type ichthyosis, a usually lethal skin disease, and lamellar ichthyosis.

Hypoplasia

hypoplasticunderdevelopeddeformity
Hypoplasia is sometimes found in the fingers.
Fingers and ears in Harlequin type ichthyosis

Eclabium

and everted
The lips are pulled back by the dry skin (eclabium).
This deformation occurs in most babies born with Harlequin type ichthyosis.

Nusrit Shaheen

Nusrit "Nelly" Shaheen
Nusrit "Nelly" Shaheen (born in 1984) is possibly the oldest known survivor in England; she resides in Coventry, and was one of nine children in a Pakistani Muslim household. Four of her eight siblings also had the condition but died as young children.
Nusrit "Nelly" Shaheen (born 1984) is the longest-living survivor of harlequin-type ichthyosis in the United Kingdom and one of the longest-living in the world.

Lamellar ichthyosis

ichthyosis, lamellarcollodion membraneichthyosis lamellar
The condition can resemble but is different from harlequin type ichthyosis.

Genetic disorder

genetic diseasegenetic disordersgenetic diseases
Harlequin-type ichthyosis is a genetic disorder which results in thickened skin over nearly the entire body at birth.

Preterm birth

premature birthprematurepremature infants
Other complications can include premature birth, infection, problems with body temperature, and dehydration.

Infection

infectious diseaseinfectious diseasesinfectious
Other complications can include premature birth, infection, problems with body temperature, and dehydration.

Gene

genesnumber of genesgene sequence
Harlequin-type ichthyosis is due to mutations of the ABCA12 genes.

Heredity

hereditaryinheritedheritable
It is inherited from a person's parents in an autosomal recessive manner.

Genetic testing

genetic testgenetic screeningDNA testing
Diagnosis is often based on appearance at birth and confirmed by genetic testing.

Amniocentesis

ACamnioamniotic centesis
Before birth amniocentesis or ultrasound may support the diagnosis.

Ultrasound

ultrasonicultrasonicsultrasounds
Before birth amniocentesis or ultrasound may support the diagnosis.

Therapy

therapeutictreatmenttherapist
Early in life constant supportive care is typically required.

Etretinate

Treatments may include moisturizing cream, antibiotics, etretinate, or retinoids.

Hyperkeratosis

hyperkeratoticFollicular hyperkeratosishyperkeratoses
Newborns with harlequin-type ichthyosis present with thick, fissured armor-plate hyperkeratosis.

Human nose

nosenasalala of the nose
The ears may be very poorly developed or absent entirely, as may the nose.

Eyelid

eyelidspalpebralpalpebra
The eyelids may be everted (ectropion), which leaves the eyes and the area around them very susceptible to infection.

Lip

upper liplower liplips
The lips are pulled back by the dry skin (eclabium).

Polydactyly

polydactylsix-fingeredpolydactylism
Polydactyly has also been found on occasion.

Xerostomia

dry mouthhyposalivationMouth dryness
In addition, the fish mouth appearance, mouth breathing, and xerostomia place affected individuals at extremely high risk for developing rampant dental decay.

Temperature

temperaturesair temperaturewarm
Patients with this condition are extremely sensitive to changes in temperature due to their hard cracked skin, which prevents normal heat loss.

Skin fissure

fissuringcracked skinFissure
Patients with this condition are extremely sensitive to changes in temperature due to their hard cracked skin, which prevents normal heat loss.