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Doctor insights on: Harlequin Ichthyosis

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Dr. Michael Kleerekoper
3 doctors shared insights

Harlequin Ichthyosis (Overview)

The most severe form of congenital ichthyosis, causing severe thickening of the stratum corneum (topmost layer), which then fractures into inflexible diamond-shaped plates of skin. Associated deformities involving the eyelids, ears, nose, mouth, and genitalia may be seen. Recent advances in treatment have led to survival to adulthood for some patients.


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What is harlequin ichthyosis?

What is harlequin ichthyosis?

Infant skin disorder: Harlequin ichthyosis is a genetic disorder which causes babies to be born with hard, thick skin (like plates). It limits mobility and can lead to respiratory failure. Most often newborns die for the condition. ...Read more

Dr. Michael Kleerekoper
3 doctors shared insights

Harlequin Ichthyosis (Overview)

The most severe form of congenital ichthyosis, causing severe thickening of the stratum corneum (topmost layer), which then fractures into inflexible diamond-shaped plates of skin. Associated deformities involving the eyelids, ears, nose, mouth, and genitalia may be seen. Recent advances in treatment have led to survival to adulthood for some patients.


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What is x-linked ichthyosis?

What is x-linked ichthyosis?

Steroid sulfatase : Deficiency.Manifests with dry, scaly skin and is due to deletions or mutations in the sts gene. Xli can also occur in the context of larger deletions causing contiguous gene syndromes. Treatment is largely aimed at alleviating the skin symptoms. Corneal opacities, cryptorchidism and mental retardation have reported. ...Read more

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What is incontinentia pigmenti - rare genetic condition?

What is incontinentia pigmenti - rare genetic condition?

Incontinentia: pigmenti is an uncommon inherited disorder of an incomplete IKBKG gene that causes increased tendency for certain body cells to self-destruct. It is more common in women and primarily affects the skin, eyes, nails and teeth. Most people are spared neurologic involvement, but delayed development, intellectual impairment and seizure may occur. ...Read more

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What is harlequin ichthyosis?

Infant skin disorder: Harlequin ichthyosis is a genetic disorder which causes babies to be born with hard, thick skin (like plates). It limits mobility and can lead to respiratory failure. Most often newborns die for the condition. ...Read more

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What are the symptoms of harlequin ichthyosis?

What are the symptoms of harlequin ichthyosis?

The worst form: The features of the sufferers are severe cranial and facial deformities. The ears may be very poorly developed or absent, also the nose. The eyelids are severely everted , which leaves the eyes and the area around them very susceptible to infection. They often bleed upon birth. The lips, pulled by the dry skin, are fixed into a wide grimace .Arms, feet, and fingers are almost always deformed ...Read more

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Why are people with harlequin type ichthyosis disease born with red eyes?

Why are people with harlequin type ichthyosis disease born with red eyes?

The eyelids...: The eyelids of these children often are rolled out and pulled away for the eyes. This exposes the inside surface of the eyelids which is very vascular and causes the eyes to be exposed and become irritated. In addition, the eyes can often bleed. It is a very difficult situation. ...Read more

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What is xeroderma pigmentosum?

What is xeroderma pigmentosum?

Xeroderma pigmentosu: Xeroderma pigmentosum is a condition which makes people very sensitive to the sun (uv rays). It can cause severe sun burning & freckling of skin. It is called xeroderma because it can dry the skin out and pigmentosum because there is added skin pigment. It can affect the eyes and may be associated with a number of other symptoms. ...Read more

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Is eczema hereditary?

Is eczema hereditary?

Sometimes: Eczema is in the same group of conditions as allergies and asthma, and can run in families the way they do. It can occur without a family history, though. Also, similar rashes can be caused by contact with irritants or certain metals if you're allergic to them. Use sensitive skin cleanser, avoid bathing in very hot water, and use sensitive skin lotion at least 3 times daily.See your doc if you need. ...Read more

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Is eczema hereditary?

Is eczema hereditary?

Yes, it can be.: Eczema or atopic dermatitis is a type of skin allergy or sensitivity. The atopic dermatitis triad includes asthma, allergies (hay fever), and eczema. There is a known hereditary component of the disease, and it is seen more in some families. The hallmarks of the disease include skin rashes and itching. It can occur in any age, most often it affects infants and young children. ...Read more

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Is eczema hereditary?

Is eczema hereditary?

Blame your parents?: Sometimes yes, sometimes no. I blame my parents whenever i get the chance, that's what they are there for! ...Read more

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Is keratosis pilaris a genetic disorder?

Is keratosis pilaris a genetic disorder?

Yes: Keratosis pilaris (kp, also follicular keratosis or chicken skin) is a common, autosomal dominant (meaning you need only one copy of the gene), genetic follicular condition that is manifested by the appearance of rough, slightly red, bumps on the skin. ...Read more

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Is dyshidrosis genetic?

Is dyshidrosis genetic?

Cause unknown: A rare, sporadic and itchy eruption of small vesicles on the fingers, palms, toes and soles of the feet, also known as dyshidrotic eczema, or Pompholyx. It usually disappears in three weeks, but may recur. Topical steroids may be helpful. It is thought associated with seasonal allergies or stress. It occurs twice as often in women than men ...Read more

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What chromosome is congenital melanocytic nevi syndrome?

What chromosome is congenital melanocytic nevi syndrome?

No specific link: The congenital melanocytic nevus syndrome is considered sporadic in its occurrence.A few available studies of biopsy material have found abnormalities on the 1st, 12th or 19 th chromosome but no consistent pattern is reported.See the recent article : www.Ncbi.Nlm.Nih.Gov/pmc/articles/pmc2994429. ...Read more

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Is eczema heriditary?

Is eczema heriditary?

Partially: Eczema has a definite hereditary component. Children of parents with a history of allergic diseases such as eczema, hay fever, and asthma are at higher risk of developing asthma. However, eczema can occur in families where there is no history of allergies or eczema. ...Read more

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Anyone heard of incontinentia pigmenti a rare genetic condition?

Anyone heard of incontinentia pigmenti a rare genetic condition?

Rare X linked pbm: Ip is a rare multisystem affliction that is seen in girl infants & fatal to males in the womb. Incidence estimates run 1/40000-1-50000 births. It appears sometimes as a blistering rash, warty or just increased pigmentation in a swirling or streaking pattern. For a more see: www.Ncbi.Nlm.Nih.Gov/pmc/articles/ pmc2729954/?Tool=pmcentrez. ...Read more

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Is goldenhar syndrome heritable?

It is a genetic synd: It is a genetic syndrome. There's a bout a 3% chance the child will pass it on and less than a 1% chance it would occur in a sibling of this child of same parents. ...Read more

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An easy explanation as to what causes harlequin ichthyosis?

An easy explanation as to what causes harlequin ichthyosis?

Genetic mutation: This is the most severe form of icthyosis, and is caused by a mutation in abca12 gene. ...Read more

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Is kabuki syndrome genetic?

Is kabuki syndrome genetic?

Kabuki syndrome: is a genetically inherited disorder. Here is a link for more information, resources and support: http://ghr.nlm.nih.gov/condition/kabuki-syndrome ...Read more

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Is autism genetic?

Is autism genetic?

Yes and no: ASD without association with known disorders such as Down syndrome, Fragile X, and many others, certainly has an important genetic component, but these same genes associated with autism are also associated with schizophrenia, depression, bipolar, ADHD, OCD, and others responsive to SSRIs, AND highly desirable qualities like musical, artistic, mathematical and other savant traits in the family ...Read more

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Is prader willi syndrome hereditary?

Is prader willi syndrome hereditary?

Not typically: Prader willi is most commonly a random genetic abnormality that occurs early in development of fetus. There is usually no history of the disease in the family. ...Read more

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Dr. Christopher Scott
72 doctors shared insights

Ichthyosis (Definition)

A skin disorder that leads to dead skin cells accumulating in thick, dry scales on the skin's surface. This is hereditary and can range ...Read more