Disease Information for De Sanctis Cacchione Syndrome

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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
Sex & Age Groups
Population/Child
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
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Hereditofamilial (category)
Definition

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
Google
Wikipedia
Merck
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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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