Summary
Definition
History and exam
Key diagnostic factors
- descamação
- alterações cutâneas no nascimento (ictiose congênita)
- início na primeira infância (na ictiose vulgar e na ictiose ligada ao cromossomo X)
- início na fase adulta (na ictiose adquirida)
- sexo masculino
- história familiar de ictiose
Other diagnostic factors
- história de atopia
- história de linfoma, diabetes mellitus, lúpus eritematoso sistêmico
- uso de clofazimina, agentes hipolipemiantes ou butirofenona
- alopecia e ectrópio na ictiose lamelar
- criptorquidia e opacidades corneanas
- surdez, deficiência intelectual, defeitos nos membros, epilepsia, baixa estatura
Risk factors
- história familiar positiva
- consanguinidade parental
- uso de clofazimina, agentes hipolipemiantes ou butirofenona
- história de linfoma, diabetes mellitus, lúpus eritematoso sistêmico
Diagnostic tests
1st tests to order
- biópsia de pele
- sulfato de colesterol sérico
- eletroforese de lipoproteínas
- atividade da esteroide sulfatase
Tests to consider
- ácido fitânico sérico
- teste genético
- Tomografia computadorizada (TC)
- glicose sérica
- fator antinuclear
Treatment algorithm
ictiose primária (genética)
ictiose secundária (adquirida)
Contributors
Authors
Brittany Craiglow, MD
Associate Adjunct Professor of Dermatology
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 topic.
Acknowledgements
Dr Brittany Craiglow would like to gratefully acknowledge Dr Timothy Patton, a previous contributor to this topic.
Disclosures
TP declared that he had no competing interests.
Peer reviewers
David Cassarino, MD, PhD
Assistant Professor
Department of Pathology and Laboratory Medicine
University of California
Los Angeles
CA
Disclosures
DC declares that he has no competing interests.
Thierry Simonart, MD, PhD
Physician
Department of Dermatology
Erasme University Hospital
Brussels
Belgium
Disclosures
TS declares that he has no competing interests.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
References
Key articles
Oji V, Traupe H. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol. 2006;16:349-359. Abstract
Mazereeuw-Hautier J, Vahlquist A, Traupe H, et al. Management of congenital ichthyoses: European guidelines of care, part one. Br J Dermatol. 2019 Feb;180(2):272-81. Abstract
Shwayder T. Disorders of keratinization: diagnosis and management. Am J Clin Dermatol. 2004;5:17-29. Abstract
Vahlquist A, Ganemo A, Virtanen M. Congenital ichthyosis: an overview of current and emerging therapies. Acta Derm Venereol. 2008;88:4-14. Abstract
Mazereeuw-Hautier J, Hernández-Martín A, O'Toole EA, et al. Management of congenital ichthyoses: European guidelines of care, part two. Br J Dermatol. 2019 Mar;180(3):484-95. Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

Differentials
- Dermatite esteatótica (eczema craquele)
- Dermatite atópica
- Psoríase
More DifferentialsGuidelines
- Ichthyosis
- Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents
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