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Items: 12

1.

Malignant melanoma

Melanoma is the most serious type of skin cancer. Often the first sign of melanoma is a change in the size, shape, color, or feel of a mole. Most melanomas have a black or black-blue area. Melanoma may also appear as a new mole. It may be black, abnormal, or ugly looking.. Thinking of ABCDE can help you remember what to watch for:. - Asymmetry - the shape of one half does not match the other. - Border - the edges are ragged, blurred or irregular. - Color - the color is uneven and may include shades of black, brown and tan. - Diameter - there is a change in size, usually an increase. -Evolving - the mole has changed over the past few weeks or months. Surgery is the first treatment of all stages of melanoma. Other treatments include chemotherapy and radiation, biologic, and targeted therapies. Biologic therapy boosts your body's own ability to fight cancer. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
9944
Concept ID:
C0025202
Neoplastic Process
2.

Melanoma

The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). [from HPO]

MedGen UID:
505377
Concept ID:
CN002586
Finding
3.

Premature graying of hair

Development of gray hair at a younger than normal age. [from HPO]

MedGen UID:
75524
Concept ID:
C0263498
Finding; Finding
4.

Vitiligo

Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). The average age of onset of vitiligo is in the mid-twenties, but it can appear at any age. It tends to progress over time, with larger areas of the skin losing pigment. Some people with vitiligo also have patches of pigment loss affecting the hair on their scalp or body.Researchers have identified several forms of vitiligo. Generalized vitiligo (also called nonsegmental vitiligo), which is the most common form, involves loss of pigment (depigmentation) in patches of skin all over the body. Depigmentation typically occurs on the face, neck, and scalp, and around body openings such as the mouth and genitals. Sometimes pigment is lost in mucous membranes, such as the lips. Loss of pigmentation is also frequently seen in areas that tend to experience rubbing, impact, or other trauma, such as the hands, arms, and places where bones are close to the skin surface (bony prominences). Another form called segmental vitiligo is associated with smaller patches of depigmented skin that appear on one side of the body in a limited area; this occurs in about 10 percent of affected individuals.Vitiligo is generally considered to be an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs. In people with vitiligo the immune system appears to attack the pigment cells (melanocytes) in the skin. About 15 to 25 percent of people with vitiligo are also affected by at least one other autoimmune disorder, particularly autoimmune thyroid disease, rheumatoid arthritis, type 1 diabetes, psoriasis, pernicious anemia, Addison disease, or systemic lupus erythematosus.In the absence of other autoimmune conditions, vitiligo does not affect general health or physical functioning. However, concerns about appearance and ethnic identity are significant issues for many affected individuals.
[from GHR]

MedGen UID:
22677
Concept ID:
C0042900
Disease or Syndrome
5.

Vitiligo

MedGen UID:
504695
Concept ID:
CN000980
Finding
6.

Vitiligo-associated multiple autoimmune disease susceptibility 1

Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other autoimmune diseases. It is a genetically complex disorder involving multiple susceptibility genes and unknown environmental triggers. Patients with generalized vitiligo have elevated frequencies of other autoimmune diseases, suggesting that these diseases involve shared genetic components (summary by Jin et al., 2010). Genetic Heterogeneity of Vitiligo-Associated Multiple Autoimmune Disease Susceptibility Additional forms of vitiligo-associated multiple autoimmune disease susceptibility have been mapped to chromosomes 1p31 (VAMAS2, 607836, associated with mutation in the FOXD3 gene, 611539), 7 (VAMAS3; 608391), 8 (VAMAS4; 608392), 4 (VAMAS5; 609400), and 6p21.3 (VAMAS6; 193200). [from OMIM]

MedGen UID:
335788
Concept ID:
C1847835
Disease or Syndrome; Finding
7.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
8.

Hypopigmentation of the skin

A reduction of skin color related to a decrease in melanin production and deposition. [from HPO]

MedGen UID:
102477
Concept ID:
C0162835
Disease or Syndrome
9.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
Organism Attribute
10.

Neuroendocrine neoplasm

Tumors whose cells possess secretory granules and originate from the neuroectoderm, i.e., the cells of the ectoblast or epiblast that program the neuroendocrine system. Common properties across most neuroendocrine tumors include ectopic hormone production (often via APUD CELLS), the presence of tumor-associated antigens, and isozyme composition. [from MeSH]

MedGen UID:
64652
Concept ID:
C0206754
Neoplastic Process
11.

Neuroectodermal neoplasm

A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells. [from HPO]

MedGen UID:
60072
Concept ID:
C0206093
Neoplastic Process
12.

Nervous tissue neoplasm

A neoplasm derived from nervous tissue (not necessarity a neoplasm located in the nervous system). [from HPO]

MedGen UID:
14324
Concept ID:
C0027665
Neoplastic Process
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