Resumo
Definição
Ichthyosis is a descriptive term for dry, scaly skin that in some cases may resemble the scales on a fish (ichthys is the Greek root for fish). The inherited ichthyoses are a group of diseases that feature scaling skin as part of their clinical presentation. The underlying defect, mode of inheritance, character, and extent of scaling differ among the various types. Because of these differences, workup and treatment varies depending on the clinical presentation.
Ichthyosis can also be acquired as a result of underlying diseases or use of certain medications. [Figure caption and citation for the preceding image starts]: Thick, plate-like scaling of the lower extremity of a patient with ichthyosis vulgarisFrom the collection of Dr Timothy Patton; used with permission [Citation ends].
História e exame físico
Principais fatores diagnósticos
- 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
- family history of ichthyosis
Outros fatores diagnósticos
- history of atopy
- history of lymphoma, diabetes mellitus, systemic lupus erythematosus
- use of clofazimine, lipid-lowering agents, or butyrophenone
- alopecia and ectropion in lamellar ichthyosis
- cryptorchidism and corneal opacities
- deafness, intellectual disability, limb defects, epilepsy, short stature
Fatores de risco
- positive family history
- parental consanguinity
- use of clofazimine, lipid-lowering agents, or butyrophenone
- history of lymphoma, diabetes mellitus, systemic lupus erythematosus
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- skin biopsy
- serum cholesterol sulfate
- lipoprotein electrophoresis
- steroid sulfatase activity
Investigações a serem consideradas
- serum phytanic acid
- genetic testing
- CT scan
- serum glucose
- antinuclear antibody
Algoritmo de tratamento
primary (genetic)
secondary (acquired)
Colaboradores
Autores
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
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
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Asteatotic dermatitis (eczema craquele)
- Atopic dermatitis
- Psoriasis
More DifferentialsGuidelines
- Ichthyosis
- Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents
More Guidelines
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