DI 23022.941:
De Sanctis Cacchione Syndrome
Effective Dates: 11/30/2012 - Present- Effective Dates: 03/28/2018 - Present
TN 8 (11-12)- TN 16 (03-18)
- DI 23022.941 De Sanctis Cacchione Syndrome
- COMPASSIONATE ALLOWANCE INFORMATION
- DE SANCTIS CACCHIONE SYNDROME
ALTERNATE NAMES- ALTERNATE NAMES
- De Sanctis-Cacchione Syndrome; Xerodermic Idiocy; Xeroderma Pigmentosum with Neurological Manifestation
DESCRIPTION- 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. De Sanctis Cacchione Syndrome is not to be confused with xeroderma pigmentosum. (See CAL template for Xeroderma Pigmentosum.)
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING- DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING
- Diagnostic testing: Diagnosis is usually made on clinical basis; in some cases, molecular testing documents mutations in ERCC6 gene.
- Physical findings: Physical findings include photosensitivity; abnormal skin pigmentation; photophobia; recurrent conjunctivitis; eyelid solar lentigines (small brown pigmented spots that appear on the upper eyelids); skin ulceration and scarring; cerebellar ataxia (inability to control movements); progressive sensorineural deafness; progressive intellectual decline; short stature; microcephaly (abnormally small head); and gonadal hypoplasia. Shortening of the Achilles tendons with eventual quadriparsis may be reported.
- ICD-9: 757.33
ONSET AND PROGRESSION- ONSET AND PROGRESSION
- De Sanctis Cacchione syndrome is usually diagnosed in infancy. Prognosis is generally poor.
TREATMENT- 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 PROGRAMMATIC ASSESSMENT*
Suggested MER for evaluation:- Suggested MER for evaluation:
- * Clinical history and examination that describes the diagnostic features of the impairment and laboratory findings are needed to confirm the diagnosis.
- * Mental testing for developmental delay or intellectual disability may be indicated.
Suggested Listings for Evaluation:- Suggested Listings for Evaluation:
DETERMINATION- DETERMINATION
- LISTING
REMARKS- Meets Listing
Meets Listing- 8.07B
8.07B- 12.05
12.05108.07B- 108.07
- 112.05
Listing level severity must be documented.Medical Equals - Medical Equals
-
* Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.- * Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.
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