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119 Possible Causes for Alopecia, Diffuse Hypomyelination

  • Multiple Carboxylase Deficiency

    Recognition of the characteristic dermatologic manifestations, alopecia and periorificial dermatitis, should result in early diagnosis and institution of potentially lifesaving[ncbi.nlm.nih.gov] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.com] Two patients presented in early childhood with (i) alopecia, skin rashs, and dermatitis, (ii) severe hypotonia, ataxia and motor retardation, (iii) frequent episodes of ketoacidosis[ncbi.nlm.nih.gov]

  • Cockayne Syndrome

    Brain imaging reveals diffuse hypomyelination of the cerebral white matter, calcifications in the putamen, and vermian atrophy.[orpha.net] Changes were compatible with diffuse white matter hypomyelination. Basal ganglia calcification was present in both, marked cerebellar atrophy in the older patient.[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy

    Cerebral magnetic resonance imaging revealed diffuse hypomyelination in both cerebral hemispheres; electrophysiological assessment revealed progressive sensorimotor axonal[ncbi.nlm.nih.gov] […] hypoplasia, patchy hypomyelination, and variable callosal hypogenesis and hydrocephalus.[neurologyindia.com] Patients with MEB show cerebellar polymicrogyria (with or without cysts), absence of the septum pellucidum, diffuse cerebral cortical dysplasia, pontine and cerebellar vermian[neurologyindia.com]

  • Woodhouse Sakati Syndrome

    Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, intellectual disability, sensorineural deafness[ncbi.nlm.nih.gov] Brain MRI showed diffusely increased periven-tricular white matter and centrum semiovale signal intensities onT2 images, suggestive of white matter hypomyelination, but wasotherwise[docslide.com.br] Case Report Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse‐Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene Regina C. Betz M.D.[doi.org]

  • Ichthyosis and Male Hypogonadism

    الصفحة 38 - Changes in hair weight and hair count in men with androgenetic alopecia, after application of 5% and 2% topical minoxidil, placebo, or no treatment.[books.google.com] Sasaki M, Takanashi J, Tada H, et al: Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum. Brain Dev 2009; 31: 582-587.[plaza.umin.ac.jp] Intelligence-Decreased Fertility-Short Stature) Syndrome Ichthyosiform Erythroderma-Hair Abnormality-Mental And Growth Retardation Syndrome Ichthyosis Follicularis-Atrichia (Or Alopecia[neo-genetics.com]

  • Propionic Acidemia

    Multiple carboxylase deficiency is differentiated from propionic acidemia by skin manifestations, which include generalized erythematous rash with exfoliation and alopecia[webmedcentral.com] Galactosemia may present with diffuse hypomyelination.[docslide.us] Available enzyme assays include: -Biotinidase assay- in cases with suspected biotinidase deficiency (intractable seizures, seborrheic rash, alopecia); -GALT (galactose 1-phosphate[slideshare.net]

  • Hypohidrotic Ectodermal Dysplasia

    […] dysplasia (anhidrotic) Code Version: 2019 ICD-10-CM Synonyms Acanthosis nigricans Ackerman syndrome Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes Alopecia[healthprovidersdata.com] diffuses central nervous system Macular ataxia myoclonies dégénerescence Ataxia myosis congenital Ataxia opsoclonie myoclonie Ataxia pancytopénie Family paroxystic ataxia[wikipedia.qwika.com] Synonyms Acanthosis nigricans Ackerman syndrome Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal[icdlist.com]

  • Amaurosis-Hypertrichosis Syndrome

    […] hypogonadism Alopecia mental retardation syndrome Alopecia totalis Alopecia universalis onychodystrophy vitiligo Alopecia universalis Alopecia, epilepsy, pyorrhea, mental[statemaster.com] diffuses central nervous system Macular ataxia myoclonies dégénerescence Ataxia myosis congenital Ataxia opsoclonie myoclonie Ataxia pancytopénie Family paroxystic ataxia[wikipedia.qwika.com] PGM3-CDG Locked-in syndrome Corneal hypesthesia, familial Spinocerebellar ataxia 23 Hereditary diffuse leukoencephalopathy with spheroids CADASIL Optic pathway glioma Binswanger's[checkrare.com]

  • Oculo-Palato-Cerebral Syndrome

    Odonto onycho dysplasia with alopecia[?] Odontoma[?] Odontomicronychial dysplasia[?] Odontoonychodermal dysplasia[?] Odontophobia[?][encyclopedia.kids.net.au] Sasaki M, Takanashi J, Tada H, et al: Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum. Brain Dev 2009; 31: 582-587.[plaza.umin.ac.jp] […] facial clefts * Oculomelic amyoplasia * Oculopalatoskeletal syndrome * Oculopharyngeal muscular dystrophy * Oculorenocerebellar syndrome Od-Ok * Odonto onycho dysplasia with alopecia[en.academic.ru]

  • Bonnemann-Meinecke-Reich Syndrome

    Branchio-Oto-renal, syndrome Branchio squeletto genital syndrome Braun Bayer syndrome of Attach poplitée syndrome of Attach poplitée syndrome forms lethal Brocq, cicatricial alopecia[wikipedia.qwika.com] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.es] Type Acroosteolysis Dominant Type Acrorenal-Mandibular Syndrome Adrenoleukodystrophy , Autosomal Neonatal Form Agenesis Of The Corpus Callosum And Congenital Lymphedema Alopecia-Contractures-Dwarfism[familydiagnosis.com]

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