We report a 6- month- old Japanese boy showing ichthyosis linearis circumflexa localized on the palms and soles. He showed bamboo hairs and aminoaciduria, and was positive for cow’ s milk and egg IgE antibodies by ra...We report a 6- month- old Japanese boy showing ichthyosis linearis circumflexa localized on the palms and soles. He showed bamboo hairs and aminoaciduria, and was positive for cow’ s milk and egg IgE antibodies by radioallergosorbent tests. Trypsin- like hydrolytic activity in the patient’ s lesional stratum corneum showed an activity seven times higher than that in age- matched controls. DNA analysis showed that the patient harboured the compound heterozygous mutations R790X and 1220+ 1 G → C in the SPINKS gene, compatible with the diagnosis of Netherton syndrome (NS). As the genotype/phenotype correlations in NS have not yet been fully clarified, the position of the premature termination codon in the SPINK5 gene may contribute to explain such a mild form of NS in our patient.展开更多
文摘We report a 6- month- old Japanese boy showing ichthyosis linearis circumflexa localized on the palms and soles. He showed bamboo hairs and aminoaciduria, and was positive for cow’ s milk and egg IgE antibodies by radioallergosorbent tests. Trypsin- like hydrolytic activity in the patient’ s lesional stratum corneum showed an activity seven times higher than that in age- matched controls. DNA analysis showed that the patient harboured the compound heterozygous mutations R790X and 1220+ 1 G → C in the SPINKS gene, compatible with the diagnosis of Netherton syndrome (NS). As the genotype/phenotype correlations in NS have not yet been fully clarified, the position of the premature termination codon in the SPINK5 gene may contribute to explain such a mild form of NS in our patient.
