88 results match your criteria Trichorrhexis Invaginata Netherton Syndrome or Bamboo Hair

Overexpression of DsEXLA2 gene from Dendrocalamus sinicus accelerates the plant growth rate of Arabidopsis.

Phytochemistry 2022 Jul 3;199:113178. Epub 2022 Apr 3.

State Key Laboratory of Tree Genetics and Breeding, Institute of Highland Forest Science, Chinese Academy of Forestry, Kunming, 650233, PR China. Electronic address:

Expansins play crucial roles in cell wall loosening and a range of life activities involving cell wall modification. Nevertheless, the biological functions of expansin genes during fast growth of bamboo remain unclear. In this study, Dendrocalamus sinicus, the largest and fastest growing bamboo species in the world, was used as the research material, and the full length of DsEXLA2 was cloned. Read More

View Article and Full-Text PDF

A novel pathogenic variant in the corneodesmosin gene causing generalized inflammatory peeling skin syndrome with marked eosinophilia and trichorrhexis invaginata.

Pediatr Dermatol 2022 Mar 17;39(2):268-272. Epub 2022 Feb 17.

Department of Dermatology, Starship Children's Health, Auckland District Health Board, Auckland, New Zealand.

Generalized inflammatory peeling skin syndrome (PSS) is a rare autosomal recessive genodermatosis caused by loss-of-function disease-causing variants of the corneodesmosin gene (CDSN), resulting in excessive shedding of the superficial layers of the epidermis. We describe a case of generalized inflammatory PSS in an infant, presenting at day two of life with ichthyosiform erythroderma and superficial peeling of the skin. Hair microscopy showed trichorrhexis invaginata. Read More

View Article and Full-Text PDF

Successful treatment of Netherton syndrome with dupilumab: A case report and review of the literature.

J Dermatol 2022 Jan 3;49(1):165-167. Epub 2021 Dec 3.

Department of Dermatology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Henan University People's Hospital, Zhengzhou, China.

Netherton syndrome (NS) is a rare autosomal recessive genetic disease caused by SPINK5 gene mutation without specific effective therapies available. We report a case of NS confirmed by whole exome sequencing of DNA using peripheral blood, and Sanger sequencing found two new mutations associated with her clinical presentation located at SPINK5 gene c.1220+5G>A from her father and c. Read More

View Article and Full-Text PDF
January 2022

Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient.

Clin Case Rep 2021 Nov 25;9(11):e05108. Epub 2021 Nov 25.

Section of Dermatology and Venereology Department of Medicine University of Verona Verona Italy.

A child who comes to our attention for the appearance of erythematous, scaly lesions localized to the upper and lower limbs for 2 months. Histological features suggested ichthyosiform disease and concomitant mutations in the SPINK5 and FLG2 genes confirmed Netherton syndrome with severe atopic manifestations. Read More

View Article and Full-Text PDF
November 2021

Trichorrhexis invaginata and ichthyosiform erythroderma in netherton syndrome.

Clin Case Rep 2021 Oct 10;9(10):e04945. Epub 2021 Oct 10.

Road Trauma Research Center Guilan University of Medical Sciences Rasht Iran.

Trichorrhexis invaginata and ichthyosiform erythroderma are pathognomic for Netherton Syndrome. Read More

View Article and Full-Text PDF
October 2021

Netherton Syndrome: Case Report and Review of the Literature.

Skin Appendage Disord 2021 Aug 15;7(5):346-350. Epub 2021 Jun 15.

Department of Dermatology, University Hospital "Dr. José E. González," Universidad Autónoma de Nuevo León, Monterrey, Mexico.

Netherton syndrome (NS) is a rare genodermatosis with an autosomal recessive pattern of inheritance caused by pathogenic variants in the SPINK5 gene. It is characterized by a triad consisting of atopic diathesis, ichthyosis linearis circumflexa, and hair shaft abnormalities. Ichthyosis linearis circumflexa can be confused with atopic dermatitis leading to a delayed diagnosis. Read More

View Article and Full-Text PDF

Netherton syndrome associated to otomycosis.

BMJ Case Rep 2021 Jul 20;14(7). Epub 2021 Jul 20.

Pediatrics, Hassani Abdelkader University Hospital, Sidi Bel Abbes, Algeria.

A 7-year-old girl born to consanguineous parents, had recurrent erythroderma since birth; she presented with intractable pruritus, scaling, dry skin and eczematous lesions, associated to fingers and toes onychogryphosis, along with refractory otitis. The hair was sparse and brittle, the simple light microscopic examination of hair shaft revealed a pathognomonic Bamboo aspect (trichorrehxis invaginata) and ear swab culture revealed as otitis agent. Due to the lack of genetic routine testing, children with recalcitrant erythroderma and otitis, along with hair shaft abnormalities, need to be evaluated for Netherton syndrome. Read More

View Article and Full-Text PDF

A Case Report on Netherton Syndrome.

Cureus 2020 Jul 13;12(7):e9166. Epub 2020 Jul 13.

Dermatology, King Saud Hospital, Qassim, SAU.

Netherton syndrome (NS) is a rare form of skin disorder characterized by extensive skin desquamation, hair shaft abnormality and atopic manifestations. We report a case of a two-year-old girl brought to our dermatology clinic by her mother, who had a generalized scaly skin lesion that started at birth. Her family history revealed a similar case in two of her sisters. Read More

View Article and Full-Text PDF

A novel SPINK5 mutation and successful subcutaneous immunoglobulin replacement therapy in a child with Netherton syndrome.

Pediatr Dermatol 2020 Nov 7;37(6):1202-1204. Epub 2020 Aug 7.

Department of Paediatrics, Centre for Primary Immunodeficiencies, Jessenius Faculty of Medicine of Comenius University in Bratislava, University Hospital in Martin, Martin, Slovakia.

We report a 2-year-old patient with Netherton syndrome presenting with generalized exfoliative erythroderma, ichthyosiform dermatitis, trichorrhexis invaginata, hypernatremic dehydration, failure to thrive, and recurrent respiratory infections. Molecular analysis of SPINK5 identified a novel mutation (c.1530CA). Read More

View Article and Full-Text PDF
November 2020


Arerugi 2020;69(4):267-268

View Article and Full-Text PDF
October 2020

Netherton's Syndrome: A Case of Two Male Siblings Diagnosed in Adulthood.

Case Rep Dermatol 2020 Jan-Apr;12(1):64-69. Epub 2020 Apr 8.

Department of Dermatology, Westmead Hospital, Sydney, New South Wales, Australia.

Netherton's syndrome (NS) is a rare autosomal recessive genetic disease caused by a germline mutation in the SPINK5 gene. It is most commonly diagnosed in neonates due to the presence of congenital ichthyosiform erythroderma. Affected individuals will typically also develop a hair shaft abnormality known as trichorrhexis invaginata, severe atopy, and a migratory rash known as ichythyosis linearis circumflexa. Read More

View Article and Full-Text PDF

Hair abnormality in Netherton syndrome observed under polarized light microscopy.

J Am Acad Dermatol 2020 Sep 3;83(3):847-853. Epub 2020 Feb 3.

University of the Ryukyus, Graduate School of Medicine, Okinawa, Japan. Electronic address:

Background: Trichorrhexis invaginata, the main diagnostic feature of Netherton syndrome, is often difficult to detect, especially in adult patients.

Objective: We sought to describe a characteristic feature of hairs in Netherton syndrome using a polarized light microscope and the underlying histopathologic changes.

Methods: Hairs obtained from 8 patients with Netherton syndrome were observed under polarized light, and we evaluated the correlation between number of band-like patterns and disease severity. Read More

View Article and Full-Text PDF
September 2020

Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C.

Turk J Pediatr 2019 ;61(4):604-607

Medical Genetics Health Science University, Kayseri Training and Research Center, Kayseri, Turkey.

Özyurt K, Atasoy M, Ertaş R, Ulaş Y, Akkuş MR, Kiraz A, Hennies HC. Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C. Turk J Pediatr 2019; 61: 604-607. Read More

View Article and Full-Text PDF

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

Dermatol Online J 2019 Jul 15;25(7). Epub 2019 Jul 15.

Unit of Dermatology, Oasi Research Institute - IRCCS, Troina.

Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the SPINK5 gene encompassing three main clinical findings: 1) ichthyosiform dermatitis and/or ichthyosis linearis circumflexa, 2) hair shaft defects with peculiar "trichorrhexis invaginata" (bamboo pole hair) findings, 3) atopic dermatitis. We describe two siblings affected by Netherton/Comèl syndrome who were referred to our Center for Genodermatosis. A diagnostic pathway and the description of a new SPINK5 variant has been determined for these two patients. Read More

View Article and Full-Text PDF

Strigolactone-induced senescence of a bamboo leaf in the dark is alleviated by exogenous sugar.

J Pestic Sci 2018 Aug;43(3):173-179

The Nurturing Station for the State Key Laboratory of Subtropical Silviculture, Zhejiang Agriculture and Forestry University, 666, Wusu Rd, Lin'an, China.

Strigolactones (SLs) are a series of sesquiterpene lactones that serve as plant hormones to regulate plant growth and development, such as shoot branching, lateral root formation, and root hair elongation. Recently, SLs have been reported to accelerate the leaf senescence, which is also regulated by sugar signals. In this study, we utilized segments of a bamboo leaf to observe leaf senescence and confirmed that SL accelerates leaf senescence and triggers cell death under a dark condition rather than under a light condition. Read More

View Article and Full-Text PDF

Netherton Syndrome: A Case Report and Review of Literature.

Cureus 2018 Jul 30;10(7):e3070. Epub 2018 Jul 30.

Internal Medicine, Icahn School of Medicine at Mount Sinai Queens Hospital Center, New York, USA.

Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by a triad of congenital ichthyosiform erythroderma (CIE) or ichthyosis linearis circumflexa (ILC), hair shaft abnormalities, and atopic diathesis (elevated serum IgE ). We report a case of a two-year-old boy presented with intractable pruritus, scaling, dry skin and generalized eczematous lesions resistant to atopic dermatitis therapy. Netherton syndrome misdiagnosed as atopic dermatitis due to the presence of eczematous skin lesions and allergic problems. Read More

View Article and Full-Text PDF

Trichoscopy in Hair Shaft Disorders.

Dermatol Clin 2018 Oct 16;36(4):421-430. Epub 2018 Aug 16.

Department of Dermatology, Medical University of Warsaw, Pawinskiego 5, 02-106, Warszawa, Poland.

Trichoscopy allows analyzing the structure and size of growing hair shafts in their natural environment in children and adults. The method replaces light microscopy, which requires pulling of multiple hairs for investigation. In monilethrix, trichoscopy shows uniform elliptical nodosities with intermittent constrictions. Read More

View Article and Full-Text PDF
October 2018

Considerations in surgical management of a Buschke-Lowenstein tumor in Netherton syndrome: A case report.

Pediatr Dermatol 2017 Nov;34(6):e328-e330

Department of Dermatology, Great Ormond Street Hospital, London, UK.

Netherton syndrome is an autosomal recessive ichthyosis caused by mutations in SPINK5, with the classic triad of linearis circumflexa, trichorrhexis invaginata, and atopy. There are few reports of surgical management in individuals with Netherton syndrome and clinicians may be reluctant to operate for fear of wound-healing complications. This report describes a pediatric case of a Buschke-Lowenstein tumor of the natal cleft in a patient with Netherton syndrome that had failed to respond to medical management. Read More

View Article and Full-Text PDF
November 2017

Desquamating Rash in a Patient with Undiagnosed Netherton Syndrome.

J Pediatr 2018 01 6;192:262-262.e1. Epub 2017 Nov 6.

Department of Pediatrics Vanderbilt University School of Medicine Vanderbilt University Nashville, Tennessee.

View Article and Full-Text PDF
January 2018

Phage Therapy in a 16-Year-Old Boy with Netherton Syndrome.

Front Med (Lausanne) 2017 3;4:94. Epub 2017 Jul 3.

G. Eliava Institute of Bacteriophages, Microbiology and Virology, Tbilisi, Georgia.

Netherton syndrome (NS) is a rare autosomal recessive disorder, characterized by a classical triad of clinical features, including congenital ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis coupled with frequent bacterial infections (1). The genetic basis for the disease has been recently identified with mutations in gene SPINK5, which is involved in the regulation of formation of skin barriers. We report on a 16-year-old male with all the typical manifestations of NS, including atopic diathesis and ongoing serious staphylococcal infections and allergy to multiple antibiotics whose family sought help at the Eliava Phage Therapy Center when all other treatment options were failing. Read More

View Article and Full-Text PDF

Ichthyosis linearis circumflexa with bamboo hair: challenges in the diagnosis and management.

BMJ Case Rep 2017 May 28;2017. Epub 2017 May 28.

Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.

A 15-year-old boy had persistent and refractory erythroderma since early childhood. His parents noticed polycyclic skin lesions and hair fragility around the age of 5 years. He was treated by a local untrained practitioner for more than 3 years without any significant improvement, and he developed weight gain, thinning of skin, muscle weakness and growth retardation. Read More

View Article and Full-Text PDF

A Historical View of Motion Sickness-A Plague at Sea and on Land, Also with Military Impact.

Front Neurol 2017 4;8:114. Epub 2017 Apr 4.

Institute for Clinical Neurosciences, German Center for Vertigo and Balance Disorders, Ludwig-Maximilians University, Munich, Germany.

Seasickness and its triggers, symptoms, and preventive measures were well known in antiquity. This chapter is based on an analysis of descriptions of motion sickness, in particular seasickness, in ancient Greek, Roman, and Chinese literature. A systematic search was made from the Greek period beginning with Homer in 800 BC to the late Roman period and ending with Aetios Amidenos in 600 AD, as well as in the Chinese medical classics dating from around 300 AD. Read More

View Article and Full-Text PDF

Motion sickness in ancient China: Seasickness and cart-sickness.

Neurology 2016 Jul;87(3):331-5

From the Institute for Clinical Neurosciences (T.B., J.B., D.H.) and German Center for Vertigo and Balance Disorders (T.B., D.H.), Ludwig-Maximilians University, Munich; and Horst-Görtz-Institute for Theory, History, and Ethics of Chinese Life Sciences (M.B.), Berlin, Germany.

Objective: To find and analyze descriptions of motion sickness in Chinese historical sources.

Methods: Databases and dictionaries were searched for various terms for seasickness and travel sickness, which were then entered into databases of full texts allowing selection of relevant passages from about the third to the 19th century ad.

Results: Already in 300 ad the Chinese differentiated cart-sickness, particularly experienced by persons from the arid north of China, from a ship-illness experienced by persons from the south, where rivers were important for transportation and travel. Read More

View Article and Full-Text PDF

The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition.

J Clin Diagn Res 2016 Apr 1;10(4):WD01-2. Epub 2016 Apr 1.

Junior Resident, Department of Skin and V.D., Mahatma Gandhi Institute of Medical Sciences , Sevagram, Wardha, Maharashtra, India .

Netherton Syndrome (NS) is a rare autosomal recessive hereditary ichthyosiform disease with a classical triad comprising of an ichthyosiform dermatosis, hair shaft abnormalities and atopic diathesis. There is a mutation in a gene named Serine Protease Inhibitor Kazal type-5 (SPINK5); a new type of serine protease inhibitor involved in the regulation of skin barrier formation and immunity. Skin manifestations include, Ichthyosis Linearis Circumflexa (ILC), polycyclic and serpiginous, erythematous plaques with characteristic migratory, double-edged scale at the margins, or Congenital Ichthyosiform Erythroderma (CIE). Read More

View Article and Full-Text PDF

Distinctive diet-tissue isotopic discrimination factors derived from the exclusive bamboo-eating giant panda.

Integr Zool 2016 Nov;11(6):447-456

Key Laboratory of Animal Ecology and Conservational Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China.

Stable isotope analysis is very useful in animal ecology, especially in diet reconstruction and trophic studies. Differences in isotope ratios between consumers and their diet, termed discrimination factors, are essential for studies of stable isotope ecology and are species-specific and tissue-specific. Given the specialized bamboo diet and clear foraging behavior, here, we calculated discrimination factors for carbon and nitrogen isotopes from diet to tissues (tooth enamel, hair keratin and bone collagen) for the giant panda (Ailuropoda melanoleuca), a species derived from meat-eating ancestors. Read More

View Article and Full-Text PDF
November 2016

Does the morphology of the ear of the Chinese bamboo rat (Rhizomys sinensis) show "Subterranean" characteristics?

J Morphol 2016 May 16;277(5):575-84. Epub 2016 Feb 16.

Department of Zoology, Faculty of Science, University of South Bohemia, České Budějovice, 37005, Czech Republic.

In spite of the growing interest in rodents with subterranean activity in general and the spalacids (Spalacidae) in particular, little is known about the biology of most members of this clade, such as the Chinese bamboo rat (Rhizomys sinensis). Here, we analyzed the ear morphology of R. sinensis with respect to hearing specialization for subterranean or aboveground modes of communication. Read More

View Article and Full-Text PDF

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

J Dermatol Case Rep 2015 Dec 31;9(4):110-2. Epub 2015 Dec 31.

Department of Pathology, Okmeydani Training and Research Hospital, Istanbul, Turkey.

Background: Ichthyosis linearis circumflexa is a rare form of ichthyosis characterized by polycyclic and annular lesions which are bordered by a double-edged scale. Netherton syndrome is a genodermatosis in which ichthyosis linearis circumflexa is accompanied by characteristic hair shaft abnormalities and atopic diathesis. Different treatment modalities such as emmolients, keratolytics, calcipotriene, topical corticosteroids, topical calcineurin inhibitors, systemic retinoids, phototherapy and photochemotherapy have been used with variable results. Read More

View Article and Full-Text PDF
December 2015


Genet Couns 2016;27(3):353-356

Ichthyosis Linearis Circumfiexa (ILC) is a rarely seen autosomal recessive keratinization disorder and is characterized by erythematous, polycystic, plaques with 'double-edged' scales. Its histological features resemble psoriasis. A triad of ichthyosis (usually Ichthyosis Linearis Circumfiexa), trichorrhexis invaginata (a distinctive hair shaft disorder) and atopy is named as Netherton syndrome. Read More

View Article and Full-Text PDF
October 2018

Penile cancer in a man with netherton syndrome.

Urology 2015 Apr;85(4):e21-2

Department of Urology, University of Minnesota, Minneapolis, MN. Electronic address:

Netherton syndrome (NS) is a rare autosomal recessive skin disease with severe skin inflammation and scaling, a specific hair shaft defect (trichorrhexis invaginata or bamboo hair), and severe atopic manifestations including atopic dermatitis and hay fever with high serum immunoglobulin E levels and hypereosinophilia. NS is caused by loss-of-function mutations in serine protease inhibitor of Kazal-type 5 (SPINK5) encoding lympho-epithelial Kazal-type-related inhibitor (LEKTI) expressed in the stratified epithelia. We report the first case of penile squamous cell carcinoma in a patient with NS. Read More

View Article and Full-Text PDF

Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.

Acta Derm Venereol 2015 Jul;95(6):720-4

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata (IDI)-IRCCS, 00167 Rome, Italy.

Ichthyosis linearis circumflexa (ILC) presents as serpiginous and migratory erythematous patches with double-edged scales. ILC is rarely an isolated skin manifestation, but most commonly a part of Netherton syndrome (NS). NS is caused by SPINK5 mutations, which lead to absent or sometimes reduced expression of the serine protease inhibitor LEKTI. Read More

View Article and Full-Text PDF