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A Japanese infant with localized ichthyosis linearis circumflexa on the palms and soles harbouring a compound

Y Mizuno1, Y Suga, S Muramatsu

  • 1Department of Dermatology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, Japan.

The British Journal of Dermatology
|August 27, 2005
PubMed

Insights

Netherton syndrome (NS) is a rare genetic disorder. This study details a mild NS case in an infant with ichthyosis, bamboo hairs, and specific SPINK5 gene mutations, offering insights into genotype-phenotype correlations.

Area of Science:

  • Genetics
  • Dermatology
  • Biochemistry

Background:

  • Netherton syndrome (NS) is a rare autosomal recessive disorder caused by mutations in the SPINK5 gene.
  • It is characterized by a triad of ichthyosis linearis circumflexa, trichorrhexis invaginata (bamboo hair), and atopic manifestations.
  • Genotype-phenotype correlations in NS remain incompletely understood, particularly regarding milder presentations.

Observation:

  • A 6-month-old Japanese boy presented with palmoplantar ichthyosis linearis circumflexa.
  • The patient exhibited bamboo hairs, aminoaciduria, and positive IgE antibodies to cow's milk and egg.
  • Elevated trypsin-like hydrolytic activity was noted in lesional stratum corneum.

Findings:

  • Genetic analysis revealed compound heterozygous mutations (R790X and 1220+1 G-->C) in the SPINK5 gene.
  • These mutations are consistent with a diagnosis of Netherton syndrome.
  • The specific mutation sites may correlate with the observed milder clinical phenotype.

Implications:

  • This case expands the understanding of SPINK5 mutations and their phenotypic variability in Netherton syndrome.
  • Identifying the precise location of premature termination codons in SPINK5 may help predict disease severity.
  • Further research into genotype-phenotype correlations can aid in more accurate diagnosis and management of NS.

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