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

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.

SUBMITTER: Ferreira CR

PROVIDER: S-EPMC8578301 | biostudies-literature | 2021 Sep-Oct

REPOSITORIES: biostudies-literature

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

Ferreira Carlos R CR Martinelli Diego D Blau Nenad N

Molecular genetics and metabolism 20210721 1-2

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 represen ...[more]

PMID: 34304991

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