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34 Possible Causes for Eczema, Fair Complexion, Phenylketonuria

  • Phenylketonuria

    In addition most children affected are remarkably fair of complexion and often have eczema or other skin lesions.[nejm.org] The extent of the deficiency depends on the enzyme activity, complete deficiency causes phenylketonuria, with residual enzyme activity causing mild phenylketonuria.[symptoma.com] Clinical features in the untreated patient include intellectual disability, defects in executive functioning, seizures, and eczema.[bestpractice.bmj.com]

  • Hyperphenylalaninemia

    Treatment Untreated PKU patients develop moderate to profound mental retardation and have a characteristic "mousy" odor, fair complexion, abnormal gait and stance, and dermatitis[medschool.lsuhsc.edu] There were four cases (40%) with 6-pyruvoyl-tetrahydropterin synthase deficiency, three with GTP cyclohydrolase I - autosomal recessive form deficiency, and three with dihydropteridine[ncbi.nlm.nih.gov] PKU-like symptoms include eczema and fair hair and skin coloring. Causes Genetic defects in phenylalanine hydroxylase cause most cases of hyperphenylalaninemia.[emedicine.medscape.com]

  • Classical Phenylketonuria

    Treatment Untreated PKU patients develop moderate to profound mental retardation and have a characteristic "mousy" odor, fair complexion, abnormal gait and stance, and dermatitis[medschool.lsuhsc.edu] ), PHENYLKETONURIA, PKU, PKU - Phenylketonuria, phenylalaninemia, phenylketonuria (diagnosis), phenylketonuria, Phenylalaninemia, Phenylketouria, Phenylketonuria - pku, Phenylketonurias[fpnotebook.com] Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; seizures; skin hypopigmentation; eczema[icd9data.com]

  • Histidinemia

    Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy.[books.google.ro] The urinary histamine levels of patients with eczema-like dermatitis were twice that of those without dermatitis.[ncbi.nlm.nih.gov] Abstract As a result of mass testing for phenylketonuria in infants and retarded children with the urinary ferric chloride test, a new entity, histidinemia, was described[annals.org]

  • Rheumatic Fever

    Avoid highly buffered aspirin preparations in patients with CHF, renal failure, or other conditions in which high sodium content would be harmful. 906 938 Individuals with Phenylketonuria[web.archive.org]

  • Homocystinuria

    Children usually have fair complexions, blue eyes and a peculiar malar flush.[pediatricneurosciences.com] In phenylketonuria, the L-arginine/NO pathway seems not be altered.[ncbi.nlm.nih.gov] Cutaneous signs of homocystinuria include: Hypopigmentation due to inhibition of tyrosinase Fair and thin hair Thin, translucent skin Hyperhidrosis Dry skin with tendency to eczema[dermnetnz.org]

  • Squamous Cell Carcinoma of the Skin

    Causes Those at greatest risk are: Those who have fair complexions and poor tanning capacity (burn easily Over 55 years of age Male (two to three times more common in men[healthcentral.com] […] pigmentosum  basal cell nevus (Gorlin's) syndrome  epidermodysplasia verruciformis  Muir-Torre syndrome  Porokeratosis  Bazex syndrome  Rombo syndrome  Albinism  phenylketonuria[slideshare.net] Eczema Resource Center - Caring for a child with eczema Atopic dermatitis Contact dermatitis Dry, scaly, and painful hands could be hand eczema Dyshidrotic eczema Neurodermatitis[skincarephysicians.com]

  • Vitiligo

    To optimize clinical examination and treatment assessment of patients with NSV or SV, Wood’s lamp examination should be performed, especially in individuals of fair skin complexion[ncbi.nlm.nih.gov] Read More on This Topic skin disease: Pigments …absence of melanocytes, as in vitiligo; reduced or absent synthesis of melanin by melanocytes, as in albinism and phenylketonuria[britannica.com] This may be a type of eczema or an inflammatory reaction following mild eczema. Leprosy , especially the tuberculoid variety. Halo naevus .[patient.info]

  • 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

    Physical examination revealed a fair skin complexion. There was intermittent dystonia and choreoathetosis involving all the 4 limbs.[hub.hku.hk] El-Hattab and Majid Alfadhel, 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects, Pediatric Neurology, 10.1016/j.pediatrneurol.2019.02.008[doi.org] Chorea, athetosis, hypersalivation, rash with eczema, and sudden death have also been reported.[en.wikipedia.org]

  • Oculocerebrorenal Syndrome

    Other clinical manifestations include facial dysmorphism (frontal bossing, deep-set eyes, chubby cheeks, fair complexion), destructive teno-synovitis in older patients, short[orpha.net] PMID 14884753. v t e Metabolic pathology / Inborn error of metabolism ( E70-90, 270-279 ) Amino acid Aromatic ( Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism[wikidoc.org] Diseases Brachioradial Pruritus Notalgia Paresthetica Reactive And Inflammatory Dermatoses Acute Febrile Neutrophilic Dermatosis Annulare and Pyogenic Granuloma Asteatotic Eczema[dokterairlangga.com]

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