Ichthyosis linearis circumflexa

2011 ◽  
Keyword(s):  
Ichthyosis Linearis Circumflexa

Ichthyosis Linearis Circumflexa

1996 ◽  
Vol 8 (1) ◽  
pp. 51 ◽  
Author(s):  
Ki Hoon Song ◽  
Ki Ho Kim ◽  
Gwang Yeol Joh
Keyword(s):  
Ichthyosis Linearis Circumflexa

Ichthyosis linearis circumflexa: morphological and biochemical studies

1985 ◽  
Vol 112 (3) ◽  
pp. 277-283 ◽  
Author(s):  
T. YOSHIIKE ◽  
M. MANABE ◽  
M. NEGI ◽  
H. OGAWA
Keyword(s):  
Biochemical Studies ◽  
Ichthyosis Linearis Circumflexa

Rapid and Easy Diagnosis of Netherton Syndrome with Dermoscopy

2014 ◽  
Vol 18 (4) ◽  
pp. 280-282 ◽  
Author(s):  
Zeynep Meltem Akkurt ◽  
Tuba Tuncel ◽  
Erhan Ayhan ◽  
Derya Uçmak ◽  
Ünal Uluca ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Hair Shaft ◽  
Netherton Syndrome ◽  
Ichthyosis Linearis Circumflexa ◽  
Rare Autosomal Recessive Disease

Background: Netherton syndrome is a rare autosomal recessive disease demonstrating ichthyosis linearis circumflexa, atopic findings, and hair shaft anomalies. Trichorrhexis invaginata is the pathognomonic hair shaft anomaly seen in this syndrome. Objective: 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.

scholarly journals Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy.

2015 ◽  
Vol 9 (4) ◽  
Author(s):  
Ralfi Singer ◽  
Mehmet Çopur ◽  
Ece Nur Yüksel ◽  
Emek Kocatürk ◽  
Selma Şengiz Erhan
Keyword(s):  
Narrowband Uvb ◽  
Ichthyosis Linearis Circumflexa

scholarly journals Skin barrier lipid enzyme activity in Netherton patients is associated with protease activity and ceramide abnormalities

2020 ◽  
Vol 61 (6) ◽  
pp. 859-869 ◽  
Author(s):  
Jeroen van Smeden ◽  
Hanin Al-Khakany ◽  
Yichen Wang ◽  
Dani Visscher ◽  
Nicole Stephens ◽  
...  
Keyword(s):  
Serine Protease ◽  
Protease Activity ◽  
Skin Barrier ◽  
Skin Inflammation ◽  
Acid Sphingomyelinase ◽  
Netherton Syndrome ◽  
Serine Protease Activity ◽  
In Situ Zymography ◽  
Ichthyosis Linearis Circumflexa

Individuals with Netherton syndrome (NTS) have increased serine protease activity, which strongly impacts the barrier function of the skin epidermis and leads to skin inflammation. Here, we investigated how serine protease activity in NTS correlates with changes in the stratum corneum (SC) ceramides, which are crucial components of the skin barrier. We examined two key enzymes involved in epidermal ceramide biosynthesis, β-glucocerebrosidase (GBA) and acid-sphingomyelinase (ASM). We compared in situ expression levels and activities of GBA and ASM between NTS patients and controls and correlated the expression and activities with i) SC ceramide profiles, ii) in situ serine protease activity, and iii) clinical presentation of patients. Using activity-based probe labeling, we visualized and localized active epidermal GBA, and a newly developed in situ zymography method enabled us to visualize and localize active ASM. Reduction in active GBA in NTS patients coincided with increased ASM activity, particularly in areas with increased serine protease activity. NTS patients with scaly erythroderma exhibited more pronounced anomalies in GBA and ASM activities than patients with ichthyosis linearis circumflexa. They also displayed a stronger increase in SC ceramides processed via ASM. We conclude that changes in the localization of active GBA and ASM correlate with i) altered SC ceramide composition in NTS patients, ii) local serine protease activity, and iii) the clinical manifestation of NTS.

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