A case of atypical late-onset Netherton syndrome without bamboo hair
- VernacularTitle:不伴竹节发的不典型迟发Netherton综合征一例
- Author:
Yingdan CHEN
1
;
Hui HUANG
;
Shuaihantian LUO
;
Yaping LI
;
Xiaoliu SHI
;
Guiying ZHANG
Author Information
- Keywords: Netherton syndrome; Skin manifestations; DNA mutational analysis; SPINK5 gene; Bamboo Hair
- From: Chinese Journal of Dermatology 2021;54(8):716-718
- CountryChina
- Language:Chinese
- Abstract: A 24-year-old female patient presented with recurrent itchy annular erythema and scales on the trunk and extremities for 9 years. Histopathological study revealed hyperkeratosis with focal parakeratosis, neutrophil aggregation in the stratum corneum, blisters below the stratum corneum, and perivascular infiltration with lymphocytes, a small number of eosinophils and neutrophils in the superficial and middle dermis. Direct immunofluorescence assay showed negative staining for IgG, IgM, IgA and C3. Whole-exome sequencing of the SPINK5 gene showed a missense mutation c.2423C>T (p.T808I) in exon 25, and a splicing site mutation c.2965-1G>A in exon 31. The compound heterozygosity for the two mutations may be the cause of Netherton syndrome in the patient. Based on the clinical manifestations and genetic testing results, the patient was diagnosed with Netherton syndrome.
