Summary
Definition
Anamnesis y examen
Principales factores de diagnóstico
- 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
Otros factores de diagnóstico
- 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
Factores de riesgo
- positive family history
- parental consanguinity
- use of clofazimine, lipid-lowering agents, or butyrophenone
- history of lymphoma, diabetes mellitus, systemic lupus erythematosus
Pruebas diagnósticas
Primeras pruebas diagnósticas para solicitar
- skin biopsy
- serum cholesterol sulfate
- lipoprotein electrophoresis
- steroid sulfatase activity
Pruebas diagnósticas que deben considerarse
- serum phytanic acid
- genetic testing
- CT scan
- serum glucose
- antinuclear antibody
Algoritmo de tratamiento
primary (genetic)
secondary (acquired)
Colaboradores
Autores
Brittany Craiglow, MD
Associate Adjunct Professor of Dermatology
Yale University
New Haven
CT
Divulgaciones
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.
Agradecimientos
Dr Brittany Craiglow would like to gratefully acknowledge Dr Timothy Patton, a previous contributor to this topic.
Divulgaciones
TP declared that he had no competing interests.
Revisores por pares
David Cassarino, MD, PhD
Assistant Professor
Department of Pathology and Laboratory Medicine
University of California
Los Angeles
CA
Divulgaciones
DC declares that he has no competing interests.
Thierry Simonart, MD, PhD
Physician
Department of Dermatology
Erasme University Hospital
Brussels
Belgium
Divulgaciones
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.
Referencias
Artículos principales
Oji V, Traupe H. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol. 2006;16:349-359. Resumen
Craiglow BG. Ichthyosis in the newborn. Semin Perinatol. 2013;37:26-31.Texto completo Resumen
Shwayder T. Disorders of keratinization: diagnosis and management. Am J Clin Dermatol. 2004;5:17-29. Resumen
Vahlquist A, Ganemo A, Virtanen M. Congenital ichthyosis: an overview of current and emerging therapies. Acta Derm Venereol. 2008;88:4-14. Resumen
Artículos de referencia
Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo 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
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