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Items: 7

1.

Melorheostosis

Melorheostosis (MEL) is characterized by 'flowing' hyperostosis of the cortex of tubular bones. The lesions are usually asymmetric and involve only 1 limb or correspond to a particular sclerotome. They may be accompanied by abnormalities of adjacent soft tissue, including joint contractures, sclerodermatous skin lesions, muscle atrophy, or hemangiomas (review by Hellemans et al., 2004). The designation combines root words meaning 'limb,' 'flow,' and 'bone.' Melorheostosis may sometimes be a feature of Buschke-Ollendorff syndrome (BOS; 166700), a benign disorder which is caused by mutation in the LEMD3 gene (607844). Although germline or somatic LEMD3 mutations had been postulated to cause isolated melorheostosis (Butkus et al., 1997; Debeer et al., 2003; Happle, 2004; Hellemans et al., 2004), several studies have not been able to prove this (Hellemans et al., 2004; Mumm et al., 2007; Zhang et al., 2009). [from OMIM]

MedGen UID:
460981
Concept ID:
C3149631
Disease or Syndrome
2.

Melanoma

Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. This cancer typically occurs in areas that are only occasionally sun-exposed; tumors are most commonly found on the back in men and on the legs in women. Melanoma usually occurs on the skin (cutaneous melanoma), but in about 5 percent of cases it develops in melanocytes in other tissues, including the eyes (uveal melanoma) or mucous membranes that line the body's cavities, such as the moist lining of the mouth (mucosal melanoma). Melanoma can develop at any age, but it most frequently occurs in people in their fifties to seventies and is becoming more common in teenagers and young adults.

A large number of moles or other pigmented skin growths on the body, generally more than 25, is associated with an increased risk of developing melanoma. Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. Additionally, individuals who have previously had melanoma are nearly nine times more likely than the general population to develop melanoma again. It is estimated that about 90 percent of individuals with melanoma survive at least 5 years after being diagnosed.

Melanoma may develop from an existing mole or other normal skin growth that becomes cancerous (malignant); however, many melanomas are new growths. Melanomas often have ragged edges and an irregular shape. They can range from a few millimeters to several centimeters across. They can also be a variety of colors: brown, black, red, pink, blue, or white.

Most melanomas affect only the outermost layer of skin (the epidermis). If a melanoma becomes thicker and involves multiple layers of skin, it can spread to other parts of the body (metastasize). [from MedlinePlus Genetics]

MedGen UID:
9944
Concept ID:
C0025202
Neoplastic Process
3.

Melanocytic nevus

A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. [from HPO]

MedGen UID:
14364
Concept ID:
C0027962
Neoplastic Process
4.

Nevus

A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. [from HPO]

MedGen UID:
45074
Concept ID:
C0027960
Neoplastic Process
5.

Neoplasm of the skin

A tumor (abnormal growth of tissue) of the skin. [from HPO]

MedGen UID:
19993
Concept ID:
C0037286
Neoplastic Process
6.

Neuroendocrine neoplasm

A tumor that originates from a neuroendocrine cell. [from HPO]

MedGen UID:
64652
Concept ID:
C0206754
Neoplastic Process
7.

Melanocytic skin neoplasm

A neoplasm that arises from melanocytes in the skin. [from NCI]

MedGen UID:
138096
Concept ID:
C0349501
Neoplastic Process
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