Phenotypes associated with the disease Cutaneous neuroendocrine carcinoma (ORPHA:79140):
- Merkel cell skin cancer (HP:0030447): A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:79140)
- Cutaneous photosensitivity (HP:0000992): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79140)
- Chronic noninfectious lymphadenopathy (HP:0002730): A chronic form of lymphadenopathy that is not related to infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79140)
- Cellular immunodeficiency (HP:0005374): An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79140)
- Regional abnormality of skin (HP:0011356): An abnormality of the skin that is restricted to a particular body region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79140)
- Erythematous plaque (HP:0025474): A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79140)
- Erythematous macule (HP:0025475): A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79140)
- Skin nodule (HP:0200036): Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79140)
- Basal cell carcinoma (HP:0002671): The presence of a basal cell carcinoma of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79140)
- Lymphoid leukemia (HP:0005526): A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79140)
- Squamous cell carcinoma of the skin (HP:0006739): Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79140)
- Multiple myeloma (HP:0006775): A malignant plasma cell tumor growing within soft tissue or within the skeleton. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79140)
- Carcinoid tumor (HP:0100570): A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79140)
- Abnormal brain FDG positron emission tomography (HP:0012658): An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79140)
- Brain neoplasm (HP:0030692): A benign or malignant neoplasm that arises from or metastasizes to the brain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79140)
- Neoplasm of the outer ear (HP:0040095): A tumor (abnormal growth of tissue) of the outer ear. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79140)
Not associated with this disease:
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. (ORPHA:79140)