DE SANCTIS CACCHIONE SYNDROME

ALTERNATE NAMES

De Sanctis-Cacchione Syndrome; Xeroderma Pigmentosum with Neurological Manifestation

DESCRIPTION

De Sanctis Cacchione Syndrome is a rare inherited disorder characterized by extreme sunlight sensitivity, skin atrophy and pigmentation, skin tumors, and neurological and intellectual deficits. Mutations in the ERCC6 gene cause this Syndrome.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnosis is usually made on clinical basis; in some cases, molecular testing documenting mutations in ERCC6 gene.

Physical findings: Physical findings include:

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  Photosensitivity (sun allergy);

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  Abnormal skin pigmentation;

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  Photophobia (intolerance of light);

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  Recurrent conjunctivitis (inflammation or swelling of the conjunctiva);

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  Eyelid solar lentigines (small brown pigmented spots that appear on the upper eyelids);

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  Skin ulceration and scarring;

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  Cerebellar ataxia (inability to control movements);

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  Progressive sensorineural deafness;

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  Progressive intellectual decline;

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  Short stature;

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  Microcephaly (abnormally small head); and

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  Gonadal hypoplasia.

Shortening of the Achilles tendons with eventual weakness in all four limbs (quadriparesis) may be reported.

ICD-9: 757.33

PROGRESSION

De Sanctis Cacchione Syndrome is usually diagnosed in infancy. Prognosis is generally poor.

TREATMENT

Treatment for this disorder is symptom specific. Individuals with this condition require total protection from all forms of ultraviolet light. Examination by a dermatologist is recommended for evaluation of suspicious growths on the skin. Ophthalmological and neurological consultations are needed to address eye and neurological findings.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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  Clinical history and examination that describes the diagnostic features of the impairment;

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  Laboratory findings; and

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  Mental testing for developmental delay or intellectual disability may be indicated.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

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