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毛发镜检作为套叠性脆发症和 Netherton 综合征的诊断工具。

Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome.

作者信息

Bittencourt Maraya de Jesus Semblano, Moure Emanuella Rosyane Duarte, Pies Olga Ten Caten, Mendes Alena Darwich, Deprá Monique Morales, Mello Anna Luiza Piqueira de

机构信息

Universidade Federal do Pará, Belém, PA, Brazil.

Centro Universitário do Estado do Pará, Belém, PA, Brazil.

出版信息

An Bras Dermatol. 2015 Jan-Feb;90(1):114-6. doi: 10.1590/abd1806-4841.20153011.


DOI:10.1590/abd1806-4841.20153011
PMID:25672309
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4323708/
Abstract

Netherton syndrome is a rare autosomal recessive disease characterized by erythroderma, ichthyosis linearis circumflexa, atopy, failure to thrive and a specific hair shaft abnormality called trichorrhexis invaginata or bamboo hair, considered pathognomonic. We report the case of a 4-year-old boy with erythroderma since birth, growth deficit and chronic diarrhea. Trichoscopy was used to visualize typical bamboo and "golf tee" hair and of key importance to diagnose Netherton syndrome. We suggest the use of this procedure in all children diagnosed with erythroderma.

摘要

Netherton综合征是一种罕见的常染色体隐性疾病,其特征为红皮病、匐行性线状鱼鳞病、特应性、生长发育迟缓以及一种称为套叠性脆发症或竹节发的特殊毛干异常,被认为具有诊断意义。我们报告了一名4岁男孩的病例,该男孩自出生以来就患有红皮病、生长发育迟缓及慢性腹泻。通过皮肤镜观察到了典型的竹节发和“高尔夫球杆”样毛发,这对诊断Netherton综合征至关重要。我们建议对所有诊断为红皮病的儿童采用这一检查方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/670c/4323708/97c3729c1cbb/abd-90-01-0114-g05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/670c/4323708/15dd44c094cd/abd-90-01-0114-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/670c/4323708/e344863e1858/abd-90-01-0114-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/670c/4323708/6440f5dd6744/abd-90-01-0114-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/670c/4323708/16356518cb99/abd-90-01-0114-g04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/670c/4323708/97c3729c1cbb/abd-90-01-0114-g05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/670c/4323708/15dd44c094cd/abd-90-01-0114-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/670c/4323708/e344863e1858/abd-90-01-0114-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/670c/4323708/6440f5dd6744/abd-90-01-0114-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/670c/4323708/16356518cb99/abd-90-01-0114-g04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/670c/4323708/97c3729c1cbb/abd-90-01-0114-g05.jpg

相似文献

[1]
Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome.

An Bras Dermatol. 2015

[2]
Hair shaft videodermoscopy in netherton syndrome.

Pediatr Dermatol. 2009

[3]
Rapid and easy diagnosis of Netherton syndrome with dermoscopy.

J Cutan Med Surg. 2014

[4]
Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum.

Dermatol Online J. 2014-12-16

[5]
ICHTHYOSIS LINEARIS CIRCUMFLEXA: NOT ALWAYS A PART OF NETHERTON SYNDROME.

Genet Couns. 2016

[6]
Two siblings affected by Netherton/Comèl syndrome. Diagnostic pathology and description of a new SPINK5 variant.

Dermatol Online J. 2019-7-15

[7]
Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome.

Pediatr Dermatol. 1996

[8]
Netherton Syndrome: Case Report and Review of the Literature.

Skin Appendage Disord. 2021-8

[9]
Trichoscopy in Hair Shaft Disorders.

Dermatol Clin. 2018-10

[10]
Netherton syndrome and trichorrhexis invaginata--a novel diagnostic approach.

Pediatr Dermatol. 2008

引用本文的文献

[1]
Netherton Syndrome: A Comprehensive Literature Review of Pathogenesis, Clinical Manifestations, and Therapeutic Strategies.

J Mother Child. 2025-9-2

[2]
Secukinumab as a Novel Treatment for Chronic Netherton Syndrome in a Young Adult.

Am J Case Rep. 2025-4-29

[3]
Netherton Syndrome with a Novel Likely Pathogenic Variant c.420del (p.Ser141ProfsTer5) in SPINK5 Gene: A Case Report.

Case Rep Dermatol. 2024-2-23

[4]
Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in Gene.

Genes (Basel). 2023-5-14

[5]
A novel mutation in gene underlies a case of atypical Netherton syndrome.

Front Genet. 2022-9-9

[6]
Netherton Syndrome: A Case Report and Review of Literature.

Cureus. 2018-7-30

[7]
An 8-Year-Old Child with Delayed Diagnosis of Netherton Syndrome.

Case Rep Pediatr. 2018-1-30

本文引用的文献

[1]
Trichorrhexis nodosa with nail dystrophy: diagnosis by dermoscopy.

Int J Trichology. 2011-7

[2]
Trichoscopy in genetic hair shaft abnormalities.

J Dermatol Case Rep. 2008-7-7

[3]
Hair shaft videodermoscopy in netherton syndrome.

Pediatr Dermatol. 2009

[4]
Rapid diagnosis of monilethrix using dermoscopy.

Br J Dermatol. 2008-9

[5]
Netherton syndrome and trichorrhexis invaginata--a novel diagnostic approach.

Pediatr Dermatol. 2008

[6]
Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients.

J Invest Dermatol. 2008-5

[7]
Netherton syndrome: a case report and review of the literature.

Int J Dermatol. 2006-6

[8]
Netherton's syndrome: increased likelihood of diagnosis by examining eyebrow hairs.

Br J Dermatol. 1999-9

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