[Clinical features and genetics of the ichthyosis vulgaris group]

Abstract

Combined application of clinical, genetic and histological criteria in general allows a definite diagnosis of autosomal dominant ichthyosis vulgaris and of X-linked recessive ichthyosis. For differential diagnosis, the following rare syndromes should be considered: ichthyosis bullosa: Refsum syndrome; Jung-Vogel syndrome; ichthyosis with corneal opacity, pili torti and alopecia; ichthyosis with deafness, pili torti and dental anomalies; and ichthyosis with hepatosplenomegaly and cerebellar degeneration.