Autosomal Recessive Congenital Ichthyosis

Gabriele Richard

Autosomal Recessive Congenital Ichthyosis

Review

In: GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.

2001 Jan 10 [updated 2023 Apr 20].

Author

Gabriele Richard¹

Book Editors

Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Lora JH Bean, Karen W Gripp, Anne Amemiya

Affiliation

¹ Medical Director, GeneDx, Inc, Gaithersburg, Maryland

PMID: 20301593
Bookshelf ID: NBK1420

Excerpt

The purpose of this overview is to increase the awareness of clinicians regarding autosomal recessive congenital ichthyosis (ARCI), related genetic counseling issues, and management.

The following are the goals of this overview.

Goal 1: Briefly describe the clinical characteristics of ARCI.

Goal 2: Review the genetic causes of ARCI.

Goal 3: Review the differential diagnosis of ARCI with a focus on genetic conditions.

Goal 4: Provide an evaluation strategy to identify the genetic cause of ARCI in a proband (when possible).

Goal 5: Inform genetic counseling of family members of an individual with ARCI.

Goal 6: Review management of ARCI.

Sections

Publication types

Review