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Doctor insights on: Harlequin Ichthyosis Disease

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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. Lois Freisleben-Cook
3 doctors shared insights

Harlequin Ichthyosis (Definition)

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 ...Read more


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Is gaucher disease rare?

Is gaucher disease rare?

Uncommon: This genetic problem occurs in about one in 50, 000 to one in 100, 000 people. There are several types. One is more common in certain ethnic groups. ...Read more

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Is addison's disease genetic?

Is addison's disease genetic?

Not usually: The leading causes of Addison' disease in the US are: autoimmune; metastatic cancer; bleeding into adrenal glands; infectious infiltration (such as tuberculosis). Only the autoimmune type may possibly run in families, whose members typically have other autoimmune disorders such as type 1 diabetes, hypothyroidism, vitiligo, pernicious anemia, or myasthenia gravis, to name a few. ...Read more

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Is hirschsprung's disease hereditary?

Is hirschsprung's disease hereditary?

Some familial cases: Disease can be familial or develop spontaneously. It is more common in boys than girlls.Approximately 3-5 % of male siblings and 1 percent of female siblings of children with short-segment disease also have the disease.Risk substantially higher (12.4-33%) in siblings of children with total colonic involvement.Eight genomes have been associated with Hirschsprung’s disease.Most cases not familial. ...Read more

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How common is tay sachs disease?

How common is tay sachs disease?

Very rare: very rare in general population, highest risk among Ashkenazi Jewish families ...Read more

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Is alzheimer's disease inherited?

Is alzheimer's disease inherited?

Likely yes: If there is a strong history of alzheimer's disease in the family like grandparents, parents, uncles, aunts, brothers or sisters, then you could be at risk of developing it. ...Read more

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Is alzheimer's disease genetic?

Is alzheimer's disease genetic?

It depends: In rare families, there is an abnormal gene that is transmitted to children and there is 50% probability that the children will eventually develop alzheimer's disease. However, it is usually in families where several members develop alzheimer's disease in early age. Otherwise, there is inheritance of the form of apolipoprotein that increases the risk of developing alzheimer's disease earlier. ...Read more

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Is hirschsprung's disease inheritiable?

Is hirschsprung's disease inheritiable?

Constipation: Hirschsprung's disease is a congenital disease. You are born with it. It causes constipation and /or obstruction due to non functioning of intestinal nerves. It is treatable, but may require surgery to diagnose and treat. In some cases it is heriditary but usually it is sporadic. ...Read more

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Is paget's disease genetic?

Is paget's disease genetic?

Sometimes: There are two diseases termed "paget's disease." one is a rare type of breast cancer with unknown, likely multifactorial, etiology. The other is paget's disease of the bone for which there is a genetic predisposition and exposure to certain viruses may trigger the disease. Here's a link to more info about pagets of the bone: http://www.Mayoclinic.Com/health/pagets-disease-of-bone/ds00485. ...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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Is alzheimer's disease hereditary?

Is alzheimer's disease hereditary?

Yes: Early onset alzheimers has a very large genetic component. Those who get the illness in their 60's, 70's or older have a much smaller genetic component contributing to their illness. ...Read more

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How is Parkinson's disease inherited?

How is Parkinson's disease inherited?

Mostly not inherited: The vast majority of people with parkinson's seem to get it sporadically, that is without any clear inheritance from family. That being said, we've found around 12 genetic variants that seem to greatly increase the risk of developing pd in some families. Some of them are recessive (rarely crops up), and some are dominant (50% chance of getting it from 1 affected parent). ...Read more

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Is Crohn's disease hereditary?

Is Crohn's disease hereditary?

Yes: Crohn's disease is hereditary, but that does not mean if you have crohn's your child will automatically get it. The risk of a child getting crohn's from a parent is less than 10%. The risk does go up if both parents have inflammatory bowel disease. ...Read more

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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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Is raynaud's disease genetic?

Is raynaud's disease genetic?

Sometimes: Raynaud's phenomenon has been seen with a number of conditions, including some that are genetically linked. Causes? Scleroderma, rheumatoid arthritis, lupus, and mixed connective tissue disease, hormone imbalance (hypothyroidism and carcinoid), trauma (frostbite, vibrating tools), medications (propranolol [inderal], Estrogens without additional progesterone, bleomycin [bleoxane] (chemotherapy). ...Read more

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Is Parkinson's disease hereditary?

Is Parkinson's disease hereditary?

A bit: There are some hereditary factors but they are seemingly minor. If you have a first-degree relative with parkinson’s disease you are more likely to get it, but the risk is small (< 5 % according to mayo clinic reports). It can run very strongly in some families in rare situations of abnormalities of alpha-synuclein synthesis or protein disposal problems. ...Read more

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Is Parkinson's disease hereditary?

Is Parkinson's disease hereditary?

Sometimes: Parkinson disease is the most common cause of parkinsonism, a symptomatic triad of tremor, muscular rigidity, and slow movement. Most of parkinson disease is caused by contributions of multiple genes, no one of which is necessary nor sufficient, aided by poorly defined environmental factors. About seven types of parkinson disease are inherited in an autosomal dominant or recessive pattern. ...Read more

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Is Parkinson's disease hereditary?

Is Parkinson's disease hereditary?

It can be, yes: As a general rule, the younger the age of onset (<45yo is early onset), & the more affected relatives (especially close ones), then the more likely it is genetic & the higher the risk to blood relatives. Average age of pd onset is 58. The older you are @ disease onset, the less likely it is genetically inheritable. Look @ this link for help on genetics: http://www.Ncbi.Nlm.Nih.Gov/books/nbk1223/. ...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