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188 Possible Causes for Blonde Hair, Eczema, Phenylketonuria

  • Classical Phenylketonuria

    In addition to congenital anomalies and developmental delay, blond hair, fair skin and unusual urinary odor were noted.[ncbi.nlm.nih.gov] ), 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]

  • Phenylketonuria

    This may explain why persons with phenylketonuria generally have blond hair, blue eyes, and fair skin.[britannica.com] 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

    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] Due to a positive family history prenatal diagnosis for phenylketonuria was performed, revealing heterozygosity for classic phenylketonuria.[ncbi.nlm.nih.gov]

  • Homocystinuria

    The hereditary form features sparse blond hair, OSTEOPOROSIS with overgrowth of long bones, a hollowed chest, dislocation of the lenses of the eyes and mental retardation.[medical-dictionary.thefreedictionary.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]

  • 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]

  • Disorder of Amino Acid Metabolism

    Due to a decreased amount of the pigment melanin, persons with PKU tend to have lighter features, such as blond hair and blue eyes, than other family members who do not have[britannica.com] GUTHRIE'S 1 2 3 recently introduced bacterial inhibition assay provides a simple and practical mass screening method for phenylketonuria.[nejm.org] PhenylketonuriaPhenylalanine hydroxylase (or cofactor tetrahydrobiopterin)Phenylalanine/phenylketones in urineNoneARMental retardation/growth retardation/seizures/fair skin/eczema[memorize.com]

  • Uncombable Hair Syndrome

    We report a family affected to the fourth generation by uncombable hair syndrome. This syndrome is characterized by unruly, dry, blond hair with a tangled appearance.[ncbi.nlm.nih.gov] Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis, peroxisomal disorders, phenylketonuria, cytogenetics[wikivisually.com] In addition the girl suffered from atopic eczema and tooth anomalies.[unboundmedicine.com]

  • Psoriasis

    And then hair dye – I did like to dye my hair and I've gone from like bleach blonde and stuff before, doing it on my own, and when it was in a worser state that the hair dye[healthtalk.org] […] psoriasis vulgaris, pemphigus, urticaria, pruritus, allergic contact dermatitis, fish odor syndrome, toxic oil syndrome, fixed drug eruption, genetic and metabolic disorders (phenylketonuria[doi.org] Eczema Eczema (also known as atopic dermatitis) can develop at any age, even during infancy. It usually begins before age 5.[verywell.com]

  • Squamous Cell Carcinoma of the Skin

    People at the highest risk for developing basal cell carcinoma have fair skin, red or blond hair, and green, blue, or gray eyes.[nyulangone.org] […] 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

    Skin type Typical features Burning and Tanning tendency I Pale white skin, blue/hazel eyes, blond/red hair Always burns, does not tan II Fair skin, blue eyes Burns easily,[americanskin.org] 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]

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