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SULT2B1-nEDD

Previously: Lamellar ichthyosis, CIE, ARCI

nEDD Gene: SULT2B1 AR

Onset: Birth

Pathway: Lipid synthesis and transport

Category Paper: nEDD Paper

SULT2B1-nEDD: dry, scaly skin and postinflammatory hypopigmentation.

Key Clinical Clues

Collodion membrane, generalized desquamation with large dark scales.

References

Heinz L, Kim G-J, Marrakchi S et al. Mutations in SULT2B1 cause autosomal-recessive congenital ichthyosis in humans. Am J Hum Genet 2017; 100:926-39.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer

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This is a reference resource for clinicians and researchers. It is not medical advice or a diagnostic tool.

The database is still being verified and entries may be incomplete. Do not rely on it without independent professional judgement.

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SULT2B1-nEDD

Key Clinical Clues

Additional Cutaneous Features

Additional Extracutaneous Features

Treatment

References

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