Netherton Syndrome

Overview

Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Netherton Syndrome

Topic type

Condition

Category

Dermatology

MeSH classification

C16.131.077.619|C16.131.831.512.400.705|C16.320.850.673|C16.614.492.400.705|C17.800.428.333.250.705|C17.800.804.512.400.705|C17.800.827.655

Preparing for an appointment about Netherton Syndrome

If you are speaking with a healthcare professional about Netherton Syndrome, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

Finding care related to Netherton Syndrome

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