In De Sanctis-Cacchione syndrome, the earliest symptoms are the skin abnormalities associated with xeroderma pigmentosum (XP) including excessive freckling and blistering occurring after exposure to ultraviolet light (photosensitivity). In some cases, pain and blistering may occur immediately after contact with sunlight. Acute sunburn and persistent redness or inflammation of the skin (erythema) are also early symptoms of De Sanctis-Cacchione syndrome. In most cases of XP, these symptoms may be apparent immediately after birth or by the age of three years. However, in some rare cases, symptoms may not be apparent until later in childhood. In most cases of De Sanctis-Cacchione syndrome, onset is often during infancy.
Additional skin symptoms often associated with De Sanctis-Cacchione syndrome include unusually dark (hyperpigmentation) or light (hypopigmentation) areas of skin. In some cases, complete loss of skin color (depigmentation) and/or excessive scarring may occur. Wart-like lesions (actinic keratoses) may develop, as well as small red Skin lesions (telangiectasias) that are caused by abnormal widening of tiny blood vessels near the surface of the skin. The skin may also become weak and easily damaged. Degenerative (atrophic) changes may occur and the skin may appear dry and smooth.
Most children with De Sanctis-Cacchione syndrome usually have one or more neurological abnormalities; the most frequent is low intelligence. Other abnormalities may include an unusually Small head (microcephaly); hearing impairment (sensorineural deafness); absent (areflexia) or weakened (hyporeflexia) reflexes; and/or increased rigidity in some muscles causing stiffness and limitation of movement (spasticity). Affected individuals may also exhibit loss of the ability to coordinate voluntary movements (ataxia) and/or abnormal Involuntary movements of the body such as uncontrolled jerky movements combined with slow, writhing movements (choreoathetosis).
De Sanctis-Cacchione syndrome is occasionally associated with slow progressive degeneration of part of the brain known as the cerebellum (cerebellar atropy) and/or any of a group of progressive disorders involving degeneration of other parts of the brain (i.e., cortex, basis pontis, and inferior olivary nuclei). This clinical picture is similar to that seen in the hereditary olivopontocerebellar atrophies. Symptoms may include impaired muscle coordination (ataxia), tremors, involuntary movements, and speech disturbances (dysarthria).
Individuals with De Sanctis-Cacchione syndrome will also exhibit unusually slow development, profound Growth delays resulting in Short stature (dwarfism), mental retardation, and/or inadequate function of the testes or ovaries (hypogonadism).
Benign skin tumors may be associated with De Sanctis-Cacchione syndrome, with onset possible before the age of five. These may include tumors that are pre-malignant or benign (non-cancerous), such as tumors made up of blood vessels (angiomas) and/or rapidly growing tumors often occurring on sun-exposed areas of the skin.
Individuals with De Sanctis-Cacchione syndrome may experience an early onset of skin cancer. For example, skin cancers such as malignant melanoma, basal cell carcinoma, and squamous cell carcinoma often occur in individuals with this disorder; the most commonly affected areas are the head, neck, and face.
In De Sanctis-Cacchione syndrome, some of the eye symptoms associated with XP may be present. These may include an extreme intolerance to light (photophobia); inflammation of the corneas of the eyes (keratitis); inflammation of the membrane that covers the white portion of the eyes (conjunctivitis); outward facing of the eyelids (ectropion); and/or inward facing of the eyelids (entropion). The severity of symptoms related to the skin and eyes may depend on the amount of exposure to ultraviolet light.