Resumo
Definição
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
Declarações
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.
Agradecimentos
Dr Brittany Craiglow would like to gratefully acknowledge Dr Timothy Patton, a previous contributor to this topic.
Declarações
TP declared that he had no competing interests.
Revisores
David Cassarino, MD, PhD
Assistant Professor
Department of Pathology and Laboratory Medicine
University of California
Los Angeles
CA
Declarações
DC declares that he has no competing interests.
Thierry Simonart, MD, PhD
Physician
Department of Dermatology
Erasme University Hospital
Brussels
Belgium
Declarações
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.
Referências
Principais artigos
Oji V, Traupe H. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol. 2006;16:349-359. Resumo
Craiglow BG. Ichthyosis in the newborn. Semin Perinatol. 2013;37:26-31.Texto completo Resumo
Shwayder T. Disorders of keratinization: diagnosis and management. Am J Clin Dermatol. 2004;5:17-29. Resumo
Vahlquist A, Ganemo A, Virtanen M. Congenital ichthyosis: an overview of current and emerging therapies. Acta Derm Venereol. 2008;88:4-14. Resumo
Artigos de referência
Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
Diagnósticos diferenciais
- Asteatotic dermatitis (eczema craquele)
- Atopic dermatitis
- Psoriasis
Mais Diagnósticos diferenciaisDiretrizes
- Ichthyosis
- Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents
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