Total 56 clinical symptoms reported for xeroderma pigmentosum
Abnormality of the dentition |
Any abnormality of the teeth.
Synonyms:Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies |
Very frequent |
Arthralgia |
Joint pain.
Synonyms:Arthralgias; Joint pain |
Very frequent |
Cognitive impairment |
Abnormal cognition with deficits in thinking, reasoning, or remembering.
Synonyms:Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment |
Very frequent |
Conjunctival telangiectasia |
The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.
Synonyms:Conjunctival telangiectases; Small dilated blood vessels near membrane covering front of eye and eyelids; Telangiectasia, conjunctival |
Very frequent |
Cutaneous photosensitivity |
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.
Synonyms:Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity |
Very frequent |
Developmental regression |
Loss of developmental skills, as manifested by loss of developmental milestones.
Synonyms:Loss of developmental milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive |
Very frequent |
Dry skin |
Skin characterized by the lack of natural or normal moisture.
Synonyms:Dry skin; Xerosis |
Very frequent |
Failure to thrive |
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Synonyms:Faltering weight; Postnatal failure to thrive; Weight faltering |
Very frequent |
Fatigue |
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Synonyms:Fatigue; Tired; Tiredness |
Very frequent |
Freckling |
The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
Synonyms:Freckling |
Very frequent |
Hypogonadism |
A decreased functionality of the gonad.
Synonyms:Decreased activity of gonads |
Very frequent |
Intellectual disability, progressive |
The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.
Synonyms:Intellectual disability, progressive; Mental retardation, progressive; Progressive mental retardation |
Very frequent |
Optic atrophy |
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Synonyms:Optic nerve atrophy; Optic-nerve degeneration |
Very frequent |
Poikiloderma |
Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.
|
Very frequent |
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.
Synonyms:Cutaneous telangiectasia; Telangiectases |
Very frequent |
Telangiectasia of the skin |
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
Synonyms:Teleangiectasia of the skin |
Very frequent |
Thickened skin |
Laminar thickening of skin.
Synonyms:Pachydermia; Thick skin; Thickened skin |
Very frequent |
Thin skin |
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
Synonyms:Thin skin |
Very frequent |