Rapid and Easy Diagnosis of Netherton Syndrome with Dermoscopy

Akkurt, Zeynep Meltem; Tunçel, Tuba; Ayhan, Erhan; Uçmak, Derya; Uluca, Ünal; Uçak, Haydar

doi:10.2310/7750.2013.13106

Cited by 10 publications

(16 citation statements)

References 8 publications

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“…Trichorrhexis invaginata of hair and eyebrows, due to invagination of the distal portion of the hair shaft into the proximal portion, is pathognomonic for Netherton syndrome [ 10 , 11 ]. When hair breaks at the point of invagination, the appearance simulates a “golf tee” or “matchstick” [ 7 – 9 ]. Some patients may have trichorrhexis nodosa and pili torti.…”

Section: Discussionmentioning

confidence: 99%

“…It is not unusual for hundreds of hairs to be examined before a hair with trichorrhexis invaginata can be found [ 11 ]. The hair shaft abnormality is best visualized in eyebrow hair [ 8 , 9 , 11 ]. The diagnosis can be confirmed, if necessary, by identification of a germline SPINK5 mutation by DNA sequencing [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

“…The diagnosis can be confirmed, if necessary, by identification of a germline SPINK5 mutation by DNA sequencing [ 3 ]. However, the cost of performing DNA sequencing analysis limits its use in diagnosis [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

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An 8-Year-Old Child with Delayed Diagnosis of Netherton Syndrome

Leung

Barankin²,

Leong

2018

Case Reports in Pediatrics

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We report an 8-year-old boy with Netherton syndrome who was misdiagnosed and treated as severe atopic dermatitis. The diagnosis of Netherton syndrome was not made until the child was 8 years of age. We discuss the pitfalls in the diagnosis and alert physicians to the proper and early diagnosis of this syndrome. The child was treated with a low dose (0.25 mg/kg) of oral acitretin and a topical moisturizer with marked improvement of his skin and pruritus in 2 months. At 6-month follow-up, the skin was almost clear of erythema and scaling, and the hair was longer and stronger. The dose of acitretin was reduced to 0.12 mg/kg for another 6 months and then discontinued.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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An 8-Year-Old Child with Delayed Diagnosis of Netherton Syndrome

Leung

Barankin²,

Leong

2018

Case Reports in Pediatrics

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“…Hovnanian [2] proposed that as a result of LEKTI1 deficiency, KLK5, KLK7 and ELA2 (elastase 2) are improperly activated leading to abnormal skin desquamation, development of proinflammatory response together with abnormalities of lipids and improper profilaggrin processing. This mechanism triggers further actions, which, together with higher penetration of microbes and allergens, aggravate proin-flammatory response leading to development of NS symptoms [2,6,7]. …”

Section: Discussionmentioning

confidence: 99%

Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome

Śmigiel

Królak‐Olejnik

Śniegórska³

et al. 2016

Balkan Journal of Medical Genetics

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Netherton Syndrome (NS) is a very rare genetic skin disease resulting from defects in the SPINK5 gene (encoding the protease inhibitor lympho-epithelial Kazal type inhibitor 1, LEKTI1). In this report, we provide a detailed clinical description of a Polish patient with two SPINK5 mutations, the novel c.1816_1820+21delinsCT and possibly recurrent c.1431-12G>A. A detailed pathogenesis of Netherton Syndrome, on the basis of literature review, is discussed in the view of current knowledge about the LEKT1 molecular processing and activity.

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“…The eyebrows may also be affected, and the diagnosis can be made by examining eyebrow hairs (38). Trichoscopy shows multiple small nodules spaced along the shaft at irregular intervals at low magnification and a "ball and socket" appearance at high magnification (39). A SPINK5 mutation in the serine protease inhibitor LEKTI is the genetic basis for this disease (40).…”

Section: Pili Tortimentioning

confidence: 99%

Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I

Singh

Miteva

2016

Pediatric Dermatology

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Hair shaft disorders are characterized by congenital or acquired abnormalities of the hair shaft. The objective was to review the literature regarding the prognosis and treatment options of hair shaft disorders. We used keywords in the search engines PubMed and Medline to identify all publications in the English language related to the prognosis and management of hair shaft disorders. Data were extracted from 96 articles that met search criteria. Findings were limited to case reports and small case series, as no studies were found. Disorders that improve in childhood include pili torti, trichorrhexis invaginata, wooly hair, and pili trianguli et canaliculi. Others, such as trichorrhexis nodosa, monilethrix, pili annulati, and pili bifurcati improve with minoxidil. Oral retinoids have improved hair abnormalities in trichorrhexis invaginata and monilethrix. There is no specific treatment for congenital hair shaft abnormalities. Gentle hair care is the mainstay of care for hair shaft disorders associated with fragility. Practices for gentle care include no brushing, backcombing, chemical products, tight braids, heat exposure, or mechanical grooming. Any inherited or congenital disorder requires genetic counseling as part of management.

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Rapid and Easy Diagnosis of Netherton Syndrome with Dermoscopy

Abstract: In recent years, hair shaft anomalies have been described as "matchstick" and "golf tee" signs. We present a patient with Netherton syndrome diagnosed by the presence of matchstick and golf tee hairs in addition to trichorrhexis invaginata.

Cited by 10 publications

References 8 publications

An 8-Year-Old Child with Delayed Diagnosis of Netherton Syndrome

An 8-Year-Old Child with Delayed Diagnosis of Netherton Syndrome

Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome

Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I

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