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1.

Multiple fibrofolliculomas

The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, and acrochordons), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear during the third and fourth decades of life and typically increase in size and number with age. Lung cysts are mostly bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that are typically bilateral and multifocal and usually slow growing; median age of tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (so-called oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor and/or autosomal dominant spontaneous pneumothorax without cutaneous manifestations. [from GeneReviews]

MedGen UID:
91070
Concept ID:
C0346010
Disease or Syndrome
2.

Thyroid Gland Neoplasm

Tumors or cancer of the THYROID GLAND. [from MeSH]

MedGen UID:
21546
Concept ID:
C0040136
Neoplastic Process
3.

Neoplasm

A general term for autonomous tissue growth in which the malignancy status has not been established and for which the transformed cell type has not been specifically identified. [from NCI]

MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
4.

Carcinoma

type of cancer [from CHV]

MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
5.

Neoplasm of the skin

A neoplasm of the skin. [from HPO]

MedGen UID:
428780
Concept ID:
CN007095
Finding
6.

Fibrofolliculoma

A rare, pilar-associated mesenchyme neoplasm with follicular differentiation. It usually occurs in the face, neck, and chest. It presents as a dome-shaped papular lesion. It is composed of epithelial and mesenchymal cells. Patients with Birt-Hogg-Dube syndrome may develop follicular fibromas. [from NCI]

MedGen UID:
138032
Concept ID:
C0346011
Neoplastic Process
7.

Medullary Carcinoma, Not Otherwise Specified

A carcinoma composed mainly of epithelial elements with little or no stroma. Medullary carcinomas of the breast constitute 5%-7% of all mammary carcinomas; medullary carcinomas of the thyroid comprise 3%-10% of all thyroid malignancies. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1141; Segen, Dictionary of Modern Medicine, 1992) [from MeSH]

MedGen UID:
104918
Concept ID:
C0206693
Neoplastic Process
8.

Proliferating Pilar Tumor

A neoplasm with tricholemmal differentiation. It affects women more frequently than men. It usually presents on the scalp as a solitary, multilobular, large, exophytic mass. Morphologically, it may display benign cytological features and appear as a circumscribed solid-cystic neoplasm or it may display malignant characteristics and invasive features. Cases without malignant characteristics usually have an indolent course. Complete surgical excision is recommended in such cases to avoid recurrences and to allow complete examination of the specimen. Cases with malignant characteristics may have a locally aggressive clinical course, recur, or metastasize. [from NCI]

MedGen UID:
91066
Concept ID:
C0345992
Neoplastic Process
9.

Carcinomatosis

A condition in which cancer is spread widely throughout the body. [from NCI]

MedGen UID:
104704
Concept ID:
C0205699
Neoplastic Process
10.

Connective and Soft Tissue Neoplasm

Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue. [from MeSH]

MedGen UID:
60224
Concept ID:
C0206765
Neoplastic Process
11.

Fibrous tissue neoplasm

Neoplasms composed of fibrous tissue, the ordinary connective tissue of the body, made up largely of yellow or white fibers. The concept does not refer to neoplasms located in fibrous tissue. [from MeSH]

MedGen UID:
60198
Concept ID:
C0206643
Neoplastic Process
12.

Fibromyxoid Neoplasm

A benign soft-tissue neoplasm of uncertain lineage, characterized by the presence of neoplastic spindle-shaped to round cells and a fibromyxoid stroma. [from NCI]

MedGen UID:
60023
Concept ID:
C0205766
Neoplastic Process
13.

Undifferentiated Carcinoma

A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation. [from NCI]

MedGen UID:
60010
Concept ID:
C0205698
Neoplastic Process
14.

Sarcomatoid Carcinoma

A malignant epithelial neoplasm characterized by the presence of spindle cells. [from NCI]

MedGen UID:
60009
Concept ID:
C0205697
Neoplastic Process
15.

Carcinoma, anaplastic

MedGen UID:
60008
Concept ID:
C0205696
Neoplastic Process
16.

Disorder of thyroid gland

Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. If your thyroid gland is not active enough, it is called hypothyroidism. It can make you gain weight, feel fatigued, and have difficulty dealing with cold temperatures. If your thyroid is too active, it makes more thyroid hormones than your body needs. That condition is called hyperthyroidism. Too much thyroid hormone can make you lose weight, speed up your heart rate, and make you very sensitive to heat. There are many causes for both conditions. Treatment involves trying to reset your body's metabolism to a normal rate. The thyroid gland can also develop cancer. . Dept. of Health and Human Services Office on Women's Health.  [from MedlinePlus]

MedGen UID:
52747
Concept ID:
C0040128
Disease or Syndrome
17.

Neoplasm of connective tissues

Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. [from MeSH]

MedGen UID:
45035
Concept ID:
C0027656
Neoplastic Process
18.

Fibroma

A benign tumor of fibrous or fully developed connective tissue. [from MeSH]

MedGen UID:
42016
Concept ID:
C0016045
Neoplastic Process
19.

Disorder of skin

Did you know that your skin is the largest organ of your body? It is, in terms of both weight, between 6 and 9 pounds, and surface area, about 2 square yards. Your skin separates the inside of your body from the outside world. It: -Protects you from bacteria and viruses that can cause infections. -Helps you sense the outside world, such as whether it is hot or cold, wet or dry. -Regulates your body temperature . Conditions that irritate, clog or inflame your skin can cause symptoms such as redness, swelling, burning and itching. Allergies, irritants, your genetic makeup and certain diseases and immune system problems can cause dermatitis, hives and other skin conditions. Many skin problems, such as acne, also affect your appearance.  [from MedlinePlus]

MedGen UID:
20777
Concept ID:
C0037274
Disease or Syndrome
20.

Skin Neoplasm

A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma. [from NCI]

MedGen UID:
19993
Concept ID:
C0037286
Neoplastic Process

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