Program Operations Manual System (POMS)
TN 62 (10-23)
DI 23022.941 De Sanctis Cacchione Syndrome
COMPASSIONATE ALLOWANCES INFORMATION
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DE SANCTIS CACCHIONE SYNDROME
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ALTERNATE NAMES
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De Sanctis-Cacchione Syndrome; Xeroderma Pigmentosum with Neurological Manifestation
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DESCRIPTION
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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.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING
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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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Microcephaly (abnormally small head); and
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Shortening of the Achilles tendons with eventual weakness in all four limbs (quadriparesis)
may be reported.
ICD-9: 757.33
ICD-10:
Q82.8
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PROGRESSION
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De Sanctis Cacchione Syndrome is usually diagnosed in infancy. Prognosis is generally
poor.
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TREATMENT
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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.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination that describes the diagnostic features of the impairment;
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Mental testing for developmental delay or intellectual disability may be indicated.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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8.07 B
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12.05
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108.07 B
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112.05
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Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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