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Disease Comparison Results (show differences mode) for Dyskeratosis, congenital/Zinsser and Platelet factor 3 deficiency

Clinical
Demographics
Lab
Diseases
Classification
Synonyms
Treatment
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Found: 19 | Differences: 11

Found: 66 | Differences: 58

Dyskeratosis, congenital/Zinsser and Platelet factor 3 deficiency sharing 8 common findings. (show all, show common, show differences)

Laboratory Tests
Abnormal Lab Findings (Non Measured): PFA100 (Platelet Function Assay/?) abnormal
Abnormal Lab Findings: Bleeding time, Duke (Lab)

Associated Diseases & Rule outs
Associated Disease & Complications - Rule Outs: Antiphospholipid Syndrome/APLS
Associated Disease & Complications - Causes: Hepatic vein thrombosis (Budd-Chiari); Platelet manifestation/defect

Disease Mechanism & Classification
Class: CLASS/Platelet disorder (ex)
Pathophysiology: Pathophysiology/Thrombosis veins lower ext/iliac/femoral; Pathophysiology/Platelet amplification activation defect
Process: PROCESS/Hereditofamilial (category); PROCESS/Coagulation derangement/disorder (ex); PROCESS/Hereditary platelet disorders (ex)

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/Progressive

Demographics & Risk Factors
Sex & Age Groups: Population/Child-Infant Only; 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: Synergy/Parvovirus B19 marrow/effect

Disease Mechanism & Classification
Class: CLASS/Pediatric disorders (ex); CLASS/Dermatologic/Subcutaneous (category); CLASS/Skin disorder (ex); CLASS/Marrow involvement/disorder (ex); CLASS/Multisystem/organ involvement/pathology (ex)
Pathophysiology: Pathophysiology/Gene DKCI on X-chromosome; Pathophysiology/Gene locus Chromosome X.; 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: 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: RX/Oxymetholone (Adroyd); SX/Stem cell transplant/allogenic; SX/Stem-cell transplant

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