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Ferreira CR, Martinelli D, Blau N. Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses. Mol Genet Metab. 2021;134(1):87-95doi: 10.1016/j.ymgme.2021.07.005.
Ferreira, C. R., Martinelli, D., & Blau, N. (2021). Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses. Molecular genetics and metabolism, 134(1), 87-95. https://doi.org/10.1016/j.ymgme.2021.07.005
Ferreira, Carlos R, et al. "Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses." Molecular genetics and metabolism vol. 134,1 (2021): 87-95. doi: https://doi.org/10.1016/j.ymgme.2021.07.005
Ferreira CR, Martinelli D, Blau N. Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses. Mol Genet Metab. 2021 Sep-Oct;134(1):87-95. doi: 10.1016/j.ymgme.2021.07.005. Epub 2021 Jul 21. PMID: 34304991; PMCID: PMC8578301.
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Mol Genet Metab. 2021 Sep-Oct;134(1):87-95. doi: 10.1016/j.ymgme.2021.07.005. Epub 2021 Jul 21.

Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses.

Molecular genetics and metabolism

Carlos R Ferreira, Diego Martinelli, Nenad Blau

Affiliations

  1. National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: [email protected].
  2. Division of Metabolism, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  3. Division of Metabolism, University Children's Hospital, Zürich, Switzerland. Electronic address: [email protected].

PMID: 34304991 PMCID: PMC8578301 DOI: 10.1016/j.ymgme.2021.07.005

Abstract

Cutaneous signs and symptoms may facilitate the diagnosis or can help in identifying complications or side effects of overtreatment of inherited metabolic diseases. The principal manifestations can be grouped into vascular lesions, ichthyosis, papular and nodular skin lesions, abnormal pigmentation, photosensitivity, skin laxity, hair shaft involvement, and nail abnormalities. We have summarized associations of these cutaneous signs and symptoms in 252 inherited metabolic diseases. This represents the sixth of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.

Published by Elsevier Inc.

Keywords: Abnormal pigmentation; Cutis laxa; Hair shaft involvement; Ichthyosis; Photosensitivity; Skin disorders; Skin eruptions; Vascular lesions

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