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Ichthyosis

Last reviewed: 13 Sep 2025
Last updated: 11 Jan 2022

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
Todos los datos

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
Todos los datos

Factores de riesgo

  • positive family history
  • parental consanguinity
  • use of clofazimine, lipid-lowering agents, or butyrophenone
  • history of lymphoma, diabetes mellitus, systemic lupus erythematosus
Todos los datos

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

  • skin biopsy
  • serum cholesterol sulfate
  • lipoprotein electrophoresis
  • steroid sulfatase activity
Todos los datos

Pruebas diagnósticas que deben considerarse

  • serum phytanic acid
  • genetic testing
  • CT scan
  • serum glucose
  • antinuclear antibody
Todos los datos

Algoritmo de tratamiento

En curso

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

Nuestros equipos internos de evidencia y editoriales colaboran con colaboradores expertos internacionales y revisores pares para garantizar que brindemos acceso a la información más clínicamente relevante posible.

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.
  • Ichthyosis images
  • Differentials

    • Asteatotic dermatitis (eczema craquele)
    • Atopic dermatitis
    • Psoriasis
    More Differentials
  • Guidelines

    • 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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