Phenotypes associated with the disease Livedoid vasculopathy (ORPHA:542643):
- Abnormality of the lower limb (HP:0002814): An abnormality of the leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:542643)
- Livedo racemosa (HP:0033260): Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:542643)
- Skin ulcer (HP:0200042): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:542643)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:542643)
- Cutis marmorata (HP:0000965): A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:542643)
- Poor wound healing (HP:0001058): A reduced ability to heal cutaneous wounds. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:542643)
- Atrophic scars (HP:0001075): Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:542643)
- Recurrent skin infections (HP:0001581): Infections of the skin that happen multiple times. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:542643)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:542643)
- Abnormal thrombosis (HP:0001977): Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:542643)
- Varicose veins (HP:0002619): Enlarged and tortuous veins. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:542643)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:542643)
- Enlargement of the ankles (HP:0003029). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:542643)
- Elevated erythrocyte sedimentation rate (HP:0003565): An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:542643)
- Abnormality of complement system (HP:0005339): An abnormality of the complement system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:542643)
- Hyperpigmented streaks (HP:0007572). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:542643)
- Pedal edema (HP:0010741): An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:542643)
- Lower limb pain (HP:0012514): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:542643)
- Abnormal capillary morphology (HP:0025016): A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:542643)
- Telangiectasia of the skin (HP:0100585): Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:542643)
- Hypercoagulability (HP:0100724): An abnormality of coagulation associated with an increased risk of thrombosis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:542643)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Abnormal foot morphology (HP:0001760): An abnormality of the skeleton of foot. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Reduced antithrombin III activity (HP:0001976): An abnormality of coagulation related to a decreased concentration of antithrombin-III. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Hyperhomocystinemia (HP:0002160): An increased concentration of homocystine in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Abnormal circulating lipid concentration (HP:0003119): Any deviation from the normal concentration of a lipid in the blood circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Reduced protein S activity (HP:0004855): An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Venous insufficiency (HP:0005293). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Reduced protein C activity (HP:0005543): An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Lupus anticoagulant (HP:0025343): Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Erythematous papule (HP:0030350): A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Superficial dermal perivascular inflammatory infiltrate (HP:0031190): Numerous lymphocytes surrounding blood vessels in the superficial part of the dermis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Ecchymosis (HP:0031364): A purpuric lesion that is larger than 1 cm in diameter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Macular purpura (HP:0031365): Purpura that is flat (non-palpable, not raised). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Multiple mononeuropathy (HP:0032018): A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Abnormality of fibrinolysis (HP:0040224): Clinical phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Reduced plasminogen activator inhibitor 1 activity (HP:0040248): Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Hyperesthesia (HP:0100963): Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Abnormality of the peripheral nervous system (HP:0410008): Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:542643)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:542643)
- Polycythemia (HP:0001901): Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:542643)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:542643)
- Ischemic stroke (HP:0002140): Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:542643)
- Systemic lupus erythematosus (HP:0002725): A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:542643)
- Allergy (HP:0012393): An allergy is an immune response or reaction to substances that are usually not harmful. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:542643)
- Graves disease (HP:0100647): An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:542643)