Disease Information for Dyskeratosis, congenital/Zinsser

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Clinical Manifestations
Signs & Symptoms
Disfiguring/mutilating/scarring skin lesions
Dysplasia Toenails
Hypopigmented macules/skin
Increased pigmentation/tanning/hyperpigmented
Leukoplakia diffuse oral,anal,eyes,vaginal
Overgrowth of skin/palms and soles
Rash
Residual Scars lower extremity lesions
Scarring/blistered skin areas
Skin dyskeratotic/diffuse patchy scales
Skin lesions
Carious teeth/child
Carious teeth/sign
Teeth malformed/dysplastic
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Progressive
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Male
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Comet UVB cell assay/DNA repair step abnormal (Lab)
Abnormal Lab Findings - Decreased
Neutrophiles (Lab)
Abnormal Lab Findings - Increased
Fetal hemoglobin (Lab)
Associated Diseases & Rule outs
Associated Disease & Complications
Anemia
Anemia, aplastic
Congenital dyskeratosis/Zinsser
Dental caries
Dental deformities/anomalies
Dermatitis/Chronic rash
Dyshidrosis
Fracture long bones
Hyperpigmentation
Nail dystrophy
Oral leukoplakia
Pancytopenia
Teeth enamel hypoplastic
Disease Synergy - Causes
Synergy/Parvovirus B19 marrow/effect
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Dermatologic/Subcutaneous (category)
CLASS/Skin disorder (ex)
CLASS/Hematologic (category)
CLASS/Marrow involvement/disorder (ex)
CLASS/Multisystem/organ involvement/pathology (ex)
Pathophysiology
Pathophysiology/Gene DKCI on X-chromosome
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Constitutional pancytopenia
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
PROCESS/X-Linked dominant inheritance (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
Cole Engmann Zinsser syndrome, Cole Rauschkolb Toomey syndrome, Cole syndrome, congenital dyskeratosis, DKC Dyskeratosis congenita, Dyskeratosis congenita, dyskeratosis congenita (DC DKC), Dyskeratosis congenita (disorder), Dyskeratosis congenita syndrome, dyskeratosis congenital, Engman syndrome, Zinsser Cole Engman syndrome, Zinsser Cole Engmann syndrome, Zinsser Engman Cole syndrome, Zinsser syndrome, Synonym/Dyschromatosis Universalis Hereditaria, Synonym/Dyskeratosis congenita syndrome, Synonym/Scoggins type dyskeratosis congenita, Synonym/Zinnser-Cole-Engman syndrome, Synonym/Zinsser-Engman-Cole syndrome
Treatment
Drug Therapy - Indication
RX/Oxymetholone (Adroyd)
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant
Definition
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External Links Related to Dyskeratosis, congenital/Zinsser
Google
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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