Tags

Type your tag names separated by a space and hit enter

Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency.

Abstract

The biotin-responsive, multiple carboxylase deficiencies are autosomal recessively inherited disorders of metabolism in which biotin-dependent carboxylases show diminished activity. This results in an accumulation of organic acids in the urine. The clinical picture involves the nervous system, skin, respiratory system, digestive system, and immune system. The disorder has a good prognosis if biotin therapy is introduced early. If not, it can result in irreversible damage to the central nervous system and early death from metabolic acidosis. We report a 4-year-old girl with unexplained seizures that did not respond well to anticonvulsants. The development of skin problems, which histologically could match the diagnosis of a nutritional dermatitis, together with the fact that the child was constantly eating without gaining weight, led us to the diagnosis of a metabolic disorder. The accumulation of organic acids in the urine suggested the possibility of a biotin deficiency. With biotin therapy the skin problems resolved completely. The seizures also diminished. This case shows that in young children with unexplained seizures that do not respond well to classic anticonvulsant therapy, the possibility of biotin deficiency should always be considered. This article also includes a thorough review of the skin manifestations and other problems caused by biotin deficiency.

Links

  • Publisher Full Text
  • Authors+Show Affiliations

    ,

    Department of Dermatology, University Hospital Antwerp, Antwerp, Belgium.

    , ,

    Source

    Pediatric dermatology 21:3 pg 231-5

    MeSH

    Biotin
    Child, Preschool
    Diagnosis, Differential
    Female
    Humans
    Multiple Carboxylase Deficiency
    Skin Diseases

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    15165201

    Citation

    Seymons, Katia, et al. "Dermatologic Signs of Biotin Deficiency Leading to the Diagnosis of Multiple Carboxylase Deficiency." Pediatric Dermatology, vol. 21, no. 3, 2004, pp. 231-5.
    Seymons K, De Moor A, De Raeve H, et al. Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency. Pediatr Dermatol. 2004;21(3):231-5.
    Seymons, K., De Moor, A., De Raeve, H., & Lambert, J. (2004). Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency. Pediatric Dermatology, 21(3), pp. 231-5.
    Seymons K, et al. Dermatologic Signs of Biotin Deficiency Leading to the Diagnosis of Multiple Carboxylase Deficiency. Pediatr Dermatol. 2004;21(3):231-5. PubMed PMID: 15165201.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency. AU - Seymons,Katia, AU - De Moor,Anja, AU - De Raeve,Hendrik, AU - Lambert,Julien, PY - 2004/5/29/pubmed PY - 2004/9/24/medline PY - 2004/5/29/entrez SP - 231 EP - 5 JF - Pediatric dermatology JO - Pediatr Dermatol VL - 21 IS - 3 N2 - The biotin-responsive, multiple carboxylase deficiencies are autosomal recessively inherited disorders of metabolism in which biotin-dependent carboxylases show diminished activity. This results in an accumulation of organic acids in the urine. The clinical picture involves the nervous system, skin, respiratory system, digestive system, and immune system. The disorder has a good prognosis if biotin therapy is introduced early. If not, it can result in irreversible damage to the central nervous system and early death from metabolic acidosis. We report a 4-year-old girl with unexplained seizures that did not respond well to anticonvulsants. The development of skin problems, which histologically could match the diagnosis of a nutritional dermatitis, together with the fact that the child was constantly eating without gaining weight, led us to the diagnosis of a metabolic disorder. The accumulation of organic acids in the urine suggested the possibility of a biotin deficiency. With biotin therapy the skin problems resolved completely. The seizures also diminished. This case shows that in young children with unexplained seizures that do not respond well to classic anticonvulsant therapy, the possibility of biotin deficiency should always be considered. This article also includes a thorough review of the skin manifestations and other problems caused by biotin deficiency. SN - 0736-8046 UR - https://www.unboundmedicine.com/medline/citation/15165201/full_citation L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0736-8046&date=2004&volume=21&issue=3&spage=231 DB - PRIME DP - Unbound Medicine ER -