Report of a Family With an Unusual Expression of Recessive Ichthyosis
Mark Bernhardt
Abstract
Mark Bernhardt
Abstract
A family with a history of ichthyosis is described in which the type of scale was thin and fine, resembling that of ichthyosis vulgaris, but the inheritance is of the autosomal recessive type. We have reviewed our previous experience with 42 additional patients whose condition had been diagnosed as recessively inherited ichthyosis and conclude that there is considerable heterogeneity in the cutaneous manifestations. We suggest that it is not possible to classify all patients into categories such as lamellar ichthyosis or congenital ichthyosiform erythroderma, and it may be better to use a more general term such as recessive ichthyosis until specific causes can be established.
OpenAlex reports 28 citations for this work. Citation counts describe recorded attention and do not establish research quality.
A contribution statement is not available in the OpenAlex record.
Method details are not available in the OpenAlex metadata.
Findings are not separately available in the OpenAlex metadata.
Limitations are not available in the OpenAlex metadata.
Application details are not available in the OpenAlex metadata.
A family with a history of ichthyosis is described in which the type of scale was thin and fine, resembling that of ichthyosis vulgaris, but the inheritance is of the autosomal recessive type. We have reviewed our previous experience with 42 additional patients whose condition had been diagnosed as recessively inherited ichthyosis and conclude that there is considerable heterogeneity in the cutaneous manifestations. We suggest that it is not possible to classify all patients into categories such as lamellar ichthyosis or congenital ichthyosiform erythroderma, and it may be better to use a more general term such as recessive ichthyosis until specific causes can be established.
Key concepts: Ichthyosis, Lamellar ichthyosis, Congenital ichthyosis, Ichthyosis vulgaris, Medicine, Dermatology, Dyskeratosis, Autosomal recessive inheritance