[Skin manifestations in metabolic diseases]

Diagnosing a metabolic disease is not a simple task. There are more than 2000 metabolic diseases, 70% of which present with neurological manifestations. The signs and symptoms of these neurometabolic diseases are highly varied and range from purely neurological, biochemical, multisystemic, or simply cutaneous. Cutaneous manifestations in metabolic diseases appear in 10-12% as the initial sign or accompany other neurological or systemic manifestations. Identifying these cutaneous signs can assist the clinician in orienting suspicion, facilitating diagnosis, or identifying complications or treatment side effects. The main cutaneous manifestations in neurometabolic diseases can be grouped into vascular lesions, ichthyosis, papular and nodular skin lesions, pigmentation disorders, photosensitivity, skin laxity and hair involvement. In this article, we summarize the most common cutaneous signs in metabolic diseases, diagnostic guidance, and therapeutic options.