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Disease Comparison Results (show differences mode) for Pelizaeus-Merzbacher disease and Xeroderma pigmentosum

Clinical
Demographics
Lab
Diagnostic
Diseases
Classification
Synonyms
Treatment
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Found: 64 | Differences: 49

Found: 163 | Differences: 148

Pelizaeus-Merzbacher disease and Xeroderma pigmentosum sharing 15 common findings. (show all, show common, show differences)

Clinical Manifestations
Signs & Symptoms: Sun exposed areas/face, arms/involved; Actinic skin lesions present/sign; Dry skin/scaling dry skin; Freckling excess skin/exposed areas; Hyperpigmented patches/sun exposed areas; Increased pigmentation/tanning/hyperpigmented; Mutilating/skin lesions/light exposed areas/face; Patchy pigmentation/face/neck/hands; Photosensitivity/Sunsensitive skin; Pruritis Itching; Scaling/Skin finding; Skin atrophy/Poikiloderma; Hyporeflexia/DTRs decreased; Low intelligence/Low IQ; Bloodshot eyes/Conjunctival injection; Photophobia/Light sensitive; Red Eyes Bilateral; Scleral Injection
Typical Clinical Presentation: Presentation/Normal infant/Severe hereditary disease

Laboratory Tests
Abnormal Lab Findings - Decreased: Uric acid, serum (Lab)
Abnormal Lab Findings - Increased: URINE Hypoxanthine

Diagnostic Test Results
Other Tests & Procedures: Amniocentesis/Abnormality

Associated Diseases & Rule outs
Associated Disease & Complications - Rule Outs: Ataxia-telangiectasia; Basal cell carcinoma
Associated Disease & Complications - Causes: Actinic keratosis; Basal cell carcinoma; Carcinoma, squamous, skin; Conjunctivitis; Cutaneous angioma/hemangioma; Ectropion, eyelid; Entropion, eyelids; Hyperpigmentation; Keratitis; Keratoacanthoma; Melanoma, malignant; Photosensitivity dermatitis; Phototoxicity; Poikiloderma congenitale; Xeroderma; Xeroderma pigmentosa

Disease Mechanism & Classification
Class: CLASS/Dermatologic/Subcutaneous (category); CLASS/Eyelid manifestations/involvement
Pathophysiology: Pathophysiology/DNA transcriptase repair defect; Pathophysiology/Gene locus Chromosome 10; Pathophysiology/Gene locus Chromosome 10q; Pathophysiology/Oncogene PRCA1/Locus 10q
Process: PROCESS/Autosomal recessive disorder (ex)

Synonyms
Synonym: Early Onset Ataxia/Children

Treatment
Other Treatments: TX/Expectant/supportive treatment.

Clinical Manifestations
Signs & Symptoms: Dizzy on Standing/Giddy Response; Orthostatic drop in blood pressure; Bowel/Stool Incontinence; Bowel/stool incontinence in Children; Muscle spasticity; Scissor legs posture/gait; Ataxia; Ataxia, Cerebellar type; Ataxia/Motor tremor type; Athetosis; Awkward Uncoordinated Child; Basal ganglion signs; Chorea signs; Choreoathetoid movement; Choreoathetosis; CNS symptoms/signs; Coordination/signs; Dysarthria; Gait disturbance/abnormality; Hyperreflexia/DTRs increased; Infant/loss of head control; Intellectual Decline Children; Limb Ataxia; Limb ataxia/clumsiness child; Mental Deficiency Child; Mental/motor retardation in children/signs; Movement or gait disorder/signs; Nystagmus; Nystagmus, pendular; Nystagmus, rotary; Paralysis; Pill-rolling tremor/Parkinsonoid; Progressive neurological disorder/signs; Psychomotor regression/infant/child; Regressing neuromotor/skills child/signs; Rotary head movements; Seizures; Slow speech; Spastic paralysis/signs; Spastic paraplegia/signs; Staggering Gait; Tremor; Tremor in Children; Unable to tandem walk/straight line; Psychomotor retardation; Difficulty Talking; Stridor (Inspiratory noise); Stridor infant Child; Urinary incontinence in Children; Urine Incontinence; True Vertigo Sign Confirmed
Clinical Presentation & Variations: Presentation/Male infant Head nod Nystagmus Roving eyes; Presentation/Mental Retardation Progressive; Presentation/Progressive Dementia; Presentation/Progressive dementia Child Infant
Disease Progression: Course/Life-span decreased; Course/Progressive; Course/Progressive/slowly chronic illness; Course/Prolonged/persistent/Not progressive; Onset childhood/young adult/twenties; Onset/Infancy; Prognosis/Death in early twenties usual

Demographics & Risk Factors
Family History: Family history/Childhood CNS degenerating disease/death; Family history/Gait disorders; Family history/Mental retardation; Family history/Nerve disease
Sex & Age Groups: Population/Boy patient; Population/Male; Population/Male-only/limit

Diagnostic Test Results
Pathology: PATH/Brain Axons intact/absent myelin/diffuse patterns; PATH/Brain Axons preserved/few oligodendrocytes/loss myelin; PATH/Brain Demyelinated diffuse/patchy tigroid appearance; PATH/Brain Myelin in ball like structures Oligodendrocyte processes; PATH/Brain Proteolipid protein/PLP reduced (immunohistochem stains); PATH/Brain/Sudanophilic myelin dystrophy/leukodystrophy; PATH/CNS involvement/pathology specimen; PATH/Gliosis/Brain/CNS; PATH/Subcortical CNS process/lesion
Electrodiagnosis: EEG/ABR/Auditory evoked response/potential abnormal/AEP; EEG/Auditory evoked potential/ABR/loss of III-V waves; EEG/Evoked Potential Responses Abnormal; EEG/Somatic sensory evoked response/SSEP/SSER abnormal; EEG/Somatosensory evoked potential/Cortical response absent (SSEP); EEG/Visual evoked response/abnormality
CT Scan: MRI/Head Brain Abnormal; MRI/Head Child delayed myelinization pattern; MRI/Head Demyelination white matter; MRI/Head white matter/diffuse hemispheres and corticospinal lesions

Associated Diseases & Rule outs
Associated Disease & Complications - Rule Outs: Cerebral palsy
Associated Disease & Complications - Causes: Anal Incontinence; Cerebral spastic diplegia; Congenital Nystagmus; Dementia; Developmental neurologic degeneration/child; Laryngeal stridor; Leukodystrophy; Mental retardation; Microcephaly/oligophrenia; Paraplegia; Pelizaeus-Merzbacher disease; Tracheomalacia; Ataxia Disorder; Demyelinating Disease

Disease Mechanism & Classification
Class: CLASS/Jablonski/NIH Archive Anomalies Database; CLASS/Pediatric disorders (ex); CLASS/Basal ganglia lesion/involvement/disorders (ex)
Pathophysiology: Pathophysiology/Dominant and Autosomal recessive variants; Pathophysiology/Gene locus Chromosome X.; Pathophysiology/Gene locus Chromosome Xq; Pathophysiology/Gene locus Xq22; Pathophysiology/Genomic base pair repeats mutation; Pathophysiology/Infants males/adults possible females/dominant; Pathophysiology/PLP gene seven exon/mutation/deletion/repeats; Pathophysiology/X-linked and autosomal dominant types; Pathophysiology/Cerebral demyelination; Pathophysiology/CNS degeneration; Pathophysiology/CNS Proteolipid protein (PLP) gene; Pathophysiology/Demyelination; Pathophysiology/Oligodendrocyte/CNS defective development
Process: PROCESS/Autosomal dominant hereditary disease (ex).; PROCESS/Developmental/delayed expression disorder (ex); PROCESS/Eponymic (category); PROCESS/Heterogenous group of disorders (ex); PROCESS/INCIDENCE/Extremely rare disease; PROCESS/Sex-linked (X-linked) recessive inheritance (ex); PROCESS/Subsets/Variable dominance/sex linkage; PROCESS/Two/multiple subsets/disease pattern; PROCESS/Hereditary ataxia disorder (ex); PROCESS/Hereditary SCA (spinocerebellar ataxias); PROCESS/Leukodystrophy process (ex)

Synonyms
Synonym: Synonym/Acute Infantile Pelizaeus-Merzbacher subtype; Synonym/Adult late-onset Pelizaeus-Merzbacher subtype; Synonym/Aplasia, Axialis extracorticales congenital; Synonym/Autosomal dominant Pelizaeus-Merzbacher brain sclerosis; Synonym/Brain sclerosis; Synonym/Classical X-linked Brain sclerosis (Pelizaeus-Merzbacher); Synonym/Extracortical axial aplasia; Synonym/Familial brain sclerosis; Synonym/Pelizaeus-Merzbacher brain sclerosis; Synonym/PMD; Synonym/Sclerosis, diffuse familial brain; Synonym/Sudanophilic leukodystrophy, Pelizaeus-Merzbacher type

Treatment
Other Treatments: TX/Supportive/Symptomatic treatment

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