A correct classification of skin and hair signs as well as the knowledge of characteristic cutaneous symptoms is important to understand and diagnose inherited metabolic diseases. The profile of cutaneous signs, the age of the patient when manifestations initially occurred and the presence of associated symptoms, is of particular importance. Dermatological evaluation can help identify complications of the disease or side effects of treatments. Cutaneous signs of several types often occur in a single given disorder. The principal lesions can be grouped into the following main groups: vascular lesions, skin eruptions, ichthyosis, papular and nodular skin lesions, abnormal pigmentation, photosensitivity, hair disorders, and skin laxity.
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