| HPO |
HP:0001008 |
Accumulation of melanosomes in melanocytes |
— |
— |
HP:0011125 |
| HPO |
HP:0001009 |
Telangiectasia |
"Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips." [HPO:probinson] |
— |
HP:0011276 |
| HPO |
HP:0001010 |
Hypopigmentation of the skin |
"A reduction of skin color related to a decrease in melanin production and deposition." [HPO:probinson] |
— |
HP:0001000 |
| HPO |
HP:0001011 |
obsolete Diaphoresis (with pheochromocytoma) |
— |
— |
— |
| HPO |
HP:0001012 |
Multiple lipomas |
"The presence of multiple lipomas (a type of benign tissue made of fatty tissue)." [HPO:sdoelken] |
A lipoma is a benign tumor composed of fatty tissue. They are the most common form of soft tissue tumor and are usually soft to the touch, movable, and generally painless (but there is a separate entity of painful multiple lipomas which is a hereditary disease called Dercum disease or adiposis dolorosa). Many lipomas are small (under one centimeter diameter) but can enlarge to sizes greater than six centimeters. Lipomas are commonly found in adults from 40 to 60 years of age, but can also be found in children. |
HP:0012031 |
| HPO |
HP:0001013 |
Eruptive xanthomas |
"Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur." [PMID:12165227, PMID:22375975] |
Eruptive xanthomas occur in the setting of chylomicronemia and hypertriglyceridemia. |
HP:0000991 |
| HPO |
HP:0001014 |
Angiokeratoma |
"A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot." [HPO:probinson, PMID:8993949] |
— |
HP:0011276 |
| HPO |
HP:0001015 |
Prominent superficial veins |
"A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal." [] |
See Figure 4 of PMID:24456199 |
HP:0002624, HP:0007394 |
| HPO |
HP:0001017 |
Anemic pallor |
"A type of pallor that is secondary to the presence of anemia." [HPO:probinson] |
— |
HP:0000980 |
| HPO |
HP:0001018 |
Abnormal palmar dermatoglyphics |
"An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand." [HPO:probinson] |
— |
HP:0007477, HP:0040211 |
| HPO |
HP:0001019 |
Erythroderma |
"An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever." [HPO:probinson] |
— |
HP:0011123 |
| HPO |
HP:0001022 |
Albinism |
"An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina)." [HPO:sdoelken] |
— |
HP:0005599, HP:0007513 |
| HPO |
HP:0001024 |
Skin dimple over apex of long bone angulation |
— |
— |
HP:0010781 |
| HPO |
HP:0001025 |
Urticaria |
"Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure." [HPO:probinson] |
— |
HP:0011276 |
| HPO |
HP:0001026 |
Penetrating foot ulcers |
— |
— |
HP:0200042 |
| HPO |
HP:0001027 |
Soft, doughy skin |
"A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough." [] |
— |
HP:0000977 |
| HPO |
HP:0001028 |
Hemangioma |
"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [HPO:probinson] |
— |
HP:0100742 |
| HPO |
HP:0001029 |
Poikiloderma |
"Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias." [HPO:probinson] |
Poikiloderma does not refer to a specific disease entity, but can be seen owing to a number of different causes. |
HP:0011121 |
| HPO |
HP:0001030 |
Fragile skin |
"Skin that splits easily with minimal injury." [HPO:probinson] |
— |
HP:0011354 |
| HPO |
HP:0001031 |
Subcutaneous lipoma |
"The presence of subcutaneous lipoma." [HPO:probinson] |
— |
HP:0001001, HP:0001012, HP:0008069 |
| HPO |
HP:0001032 |
Absent distal interphalangeal creases |
"Absence of the distal interphalangeal flexion creases of the fingers." [HPO:curators] |
— |
HP:0006109 |
| HPO |
HP:0001033 |
Facial flushing after alcohol intake |
— |
— |
HP:0031284 |
| HPO |
HP:0001034 |
Hypermelanotic macule |
"A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size." [DDD:cmoss] |
— |
HP:0007400, HP:0012733 |
| HPO |
HP:0001036 |
Parakeratosis |
"Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes." [HPO:probinson] |
Persistence of the nuclei of keratinocytes as they rise into the stratum corneum of the epidermis. Parakeratosis is observed as scaling in many conditions such as psoriasis. |
HP:0011368 |
| HPO |
HP:0001038 |
Warfarin-induced skin necrosis |
— |
— |
HP:0001005 |