dermatologic disorders
Ichthyosis
Diagnosis of Ichthyosis
Clinical evaluation Diagnosis is based on clinical evaluation including dermatologic features, age of onset, family history, and evidence of an associated or underlying disorder. Biopsy of ichthyotic skin is usually not diagnostic of the systemic disorder; however, there are exceptions, most notably Sarcoidosis , in which a thick scale may appear on the legs, and biopsy usually shows the typical granulomas. Genetic testing is useful in establishing or confirming specific types of ichthyosis and in genetic counseling. Test panels that can be used to detect several of the gene mutations causing inherited forms of ichthyosis are available. A dermatologist should assist in diagnosis and management, and a medical geneticist should be consulted for genetic counseling. 