Summary
Definition
History and exam
Key diagnostic factors
- scaling
- skin changes at birth (in congenital ichthyosis)
- onset in infancy (in ichthyosis vulgaris and X-linked ichthyosis)
- adult onset (in acquired ichthyosis)
- male sex
- FHx of ichthyosis
Other diagnostic factors
- hx of atopy
- hx of lymphoma, diabetes, systemic lupus erythematosus
- use of clofazimine, lipid-lowering agents, or butyrophenone
- alopecia and ectropion in lamellar ichthyosis
- cryptorchidism and corneal opacities
- deafness, mental retardation, limb defects, epilepsy, short stature
Risk factors
- positive family history
- parental consanguinity
- use of clofazimine, lipid-lowering agents, or butyrophenone
- history of lymphoma, diabetes, systemic lupus erythematosus
Diagnostic investigations
1st investigations to order
- skin biopsy
- serum cholesterol sulfate
- lipoprotein electrophoresis
- steroid sulfatase activity
Investigations to consider
- serum phytanic acid
- genetic testing
- CT scan
- serum glucose
- ANA
Treatment algorithm
Contributors
Authors
Assistant Professor of Dermatology and Pediatrics
Yale University
New Haven
CT
Disclosures
BC declares that she is a member of the Foundation for Ichthyosis and Related Skin Types Advisory Board. BC is an author of a reference cited in this monograph​.
Dr Brittany Craiglow would like to gratefully acknowledge Dr Timothy Patton, a previous contributor to this monograph. TP declares that he has no competing interests.
Peer reviewers
Assistant Professor
Department of Pathology and Laboratory Medicine
University of California
Los Angeles
CA
Disclosures
DC declares that he has no competing interests.
Physician
Department of Dermatology
Erasme University Hospital
Brussels
Belgium
Disclosures
TS declares that he has no competing interests.
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