What is iris hamartoma?

Lisch nodule, also known as iris hamartoma, is a pigmented hamartomatous nodular aggregate of dendritic melanocytes affecting the iris, named after Austrian ophthalmologist Karl Lisch (1907–1999), who first recognized them in 1937. Lisch nodule.
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Are Lisch nodules common?

Although these nodules were first described by Waardenburg in 1918,3 the association between them and neurofibromatosis 1 was not fully appreciated until the report by Lisch in 1937,4 after whom they were then named. Lisch nodules are the most common clinical feature of neurofibromatosis 1 in adults.
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What are iris Lisch nodules?

Lisch nodules are melanocytic hamartomas of the iris, often associated with neurofibromatosis (NF) I. They are usually elevated and tan in appearance. Their incidence in NF1 increases with age and their prevalence raises by about 10% per year of life, up to age 9.
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Do Lisch nodules cause blindness?

These spots are called Lisch nodules and do not affect vision [See figure 3]. Lesions may occur in the inner layers of the eye (choroid), but do not affect vision.
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When do Lisch nodules appear?

Lisch nodules, however, are predominantly visible in children usually after the age of six years. Therefore, it is important to appreciate that the absence of them before this age does not pre-empt the diagnosis.
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What are Hamartomas? - Pathology mini tutorial



Is NF1 life threatening?

In most cases, symptoms of NF1 are relatively mild, allowing patients to live normal and productive lives. However, the disorder can also be debilitating and, in some cases, life-threatening. NF1 can lead to problems within various systems, organs and functions of the body including: Skin, bone and eye abnormalities.
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Does neurofibromatosis worsen with age?

Neurofibromas may increase in number with age. Bone deformities. Abnormal bone development and a deficiency in bone mineral density can cause bone deformities such as a curved spine (scoliosis) or a bowed lower leg. Tumor on the optic nerve (optic glioma).
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Do hamartomas grow?

Hamartomas are noncancerous growths that can appear anywhere on the body. While seen as harmless, these benign tumors can grow to large sizes and cause pressure on surrounding tissues. Depending on where they grow externally or internally, hamartomas can cause life-threatening symptoms.
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Can you see Lisch nodules with naked eye?

Lisch nodules are asymptomatic iris hamartomas. They can occasionally be seen with the naked eye, but slit-lamp examination is preferable to distinguish them from common iris nevi (Figure 121-3).
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Can you have Lisch nodules without NF1?

Lisch nodules, traditionally described as iris hamartomas is one of the pathognomic markers of neurofibromatosis type 1 (NF1) and are rarely seen in individuals without NF1 like segmental neurofibromatosis and Watson syndrome.
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Is hamartoma a neoplasm?

A hamartoma (from Greek hamartia, meaning “fault, defect,” and -oma, denoting a tumor or neoplasm) is a benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues found in areas of the body where growth occurs.
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What causes Lisch nodules?

]. Segmental disease is caused by late-stage mutations in the NF1 gene during embryogenesis and, in a very limited manner, could explain the development of unilateral Lisch nodules without other clinical characteristics of NF1.
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What are Lisch nodules made of?

Lisch nodules are postulated to arise from mast cells, pigmented cells and fibroblast-like cells.
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How do I know if my baby has neurofibromatosis?

Light brown spots on the skin called café-au-lait spots. These are the most common signs of NF, and they often appear at birth or in the first years of life. They're harmless, but if your child has more than six, she probably has NF1. Freckles in the armpits or groin area also are signs of NF1.
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Is NF1 a disability?

Although neurofibromatosis is a serious condition, the Social Security Administration (SSA) does not specifically list the disorder as a disability. But, the symptoms that accompany the condition can be reviewed for benefits.
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Can you have cafe au lait spots and not have NF1?

Can you have café-au-lait spots without having neurofibromatosis? Yes. It is very common for people to have a few café-au-lait spots on their bodies without having an underlying condition like neurofibromatosis type 1 (NF1).
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How do you treat hamartoma?

For definitive diagnosis and treatment, surgical excision is usually done. Although, in most cases, the malignant potential of breast hamartoma is usually the same as normal breast tissue, partial or complete mastectomy is considered in large masses and sometimes for cosmetic and psychological indications.
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Are hamartomas precancerous?

Hamartomas are benign (noncancerous) tumors that will not spread to other parts of your body. Sometimes they are left alone, but if they are causing symptoms due to their location, or if the diagnosis is uncertain, surgery to remove the tumor may be recommended.
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Are hamartomas painful?

Small hamartomas are usually painless and only present as slow-growing breast masses that do not attach to the underlying structure of the breasts. However, large hamartomas may be painful due to compression of the normal breast tissue.
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What is the life expectancy of a person with neurofibromatosis?

If there are no complications, the life expectancy of people with NF is almost normal. With the right education, people with NF can live a normal life. Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder.
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Who is most likely to get neurofibromatosis?

The only true risk factor for developing neurofibromatosis is having a parent who also has the condition. In nearly half of all cases of type 1 and type 2 neurofibromatosis, and in around 15 percent of schwannomatosis cases, the condition is passed down from parent to child.
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Can I donate blood if I have neurofibromatosis?

Must not donate if:

Neurofibromatosis is an inherited condition that causes tumours (swellings) on nerve tissue. These tumours are usually not cancerous but occasionally may become malignant. If they are in the brain they may cause epilepsy.
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Can people with NF1 live a normal life?

Most people with NF1 have no or few medical problems and live normal lives, with no need for treatment. However, because every person with NF1 is at risk of complications from this disorder, it is important that they are regularly reviewed by a doctor who is familiar with the condition.
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Can neurofibromatosis go away?

It is impossible to predict the course of NF1 in anyone with the disorder. Manifestations of neurofibromatosis generally do not disappear once they develop, although cafe-au-lait spots sometimes fade in later life. Neurofibromas can appear at any time, as can symptoms of nerve compression.
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Can NF1 tumors be removed?

If cancerous tumors develop with neurofibromatosis—for example, malignant plexiform neurofibromas, which can develop in the arms, legs, or trunk—they can also be surgically removed. For cancerous tumors, surgery may be combined with other treatments for cancer.
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