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Disease Information for De Sanctis Cacchione Syndrome
- Clinical Manifestations
- Signs & Symptoms
- Sun exposed areas/face, arms/involved
- Blisters
- Bulla/bullous rash
- Crusting Rash
- Erythematous generalized rash
- Facial erythema
- Photosensitivity/Sunsensitive skin
- Rash
- Rash/Keratotic
- Scaling/Skin finding
- Telangiectasias hand/forearms
- Telangiectasias, skin
- Mental Deficiency Child
- Demographics & Risk Factors
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- Associated Diseases & Rule outs
- Associated Disease & Complications
- Actinic keratosis
- Corneal ulceration
- De Sanctis Cacchione Syndrome
- Dwarfism
- Hypogenitalism/male
- Keratitis, exposure
- Mental retardation
- Photodermatosis
- Secondary female hypogonadism
- Xeroderma pigmentosa
- Eyelid Cancer
- Disease Mechanism & Classification
- Class
- CLASS/Pediatric disorders (ex)
- CLASS/Dermatologic/Subcutaneous (category)
- CLASS/Skin disorder (ex)
- Pathophysiology
- Pathophysiology/Biochemical UV Rays defense Fails
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- PROCESS/Autosomal recessive disorder (ex)
- PROCESS/Hereditofamilial (category)
- Definition
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De Santis Cacchione Syndrome; Xerodermic Idiocy;
De Sanctis-Cacchione syndrome is an extremely rare disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with neurological abnormalities, mental retardation, unusually short stature (dwarfism), and underdevelopment of the testes or ovaries (hypogonadism); Xeroderma pigmentosum is a group of rare inherited skin disorders characterized by a heightened reaction to ultraviolet light (photosensitivity), skin discolorations, and the possible development of several types of eye disorders and skin cancers; The most common neurological abnormalities associated with De Sanctis- Cacchione syndrome are low intelligence, an abnormally small head (microcephaly), the loss of ability to coordinate voluntary movement (ataxia), and/or absent (areflexia) or weakened (hyporeflexia) reflexes; De Sanctis-Cacchione syndrome is inherited as an autosomal recessive trait---------[NORD 2005]----------------
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- External Links Related to De Sanctis Cacchione Syndrome
- Wikipedia
- Merck
- Images
- PubMed (National Library of Medicine)
- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)
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