Search Our Scientific Publications & Authors

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

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

Arerugi 2020;69(4):267-268

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

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

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

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

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

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

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

An Bras Dermatol 2015 Jan-Feb;90(1):114-6

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

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. Read More

Dermatol Online J 2014 Dec 16;20(12). Epub 2014 Dec 16.

New York University School of Medicine.

Netherton syndrome is a rare, autosomal recessive disorder that is characterized by congenital ichthyosis, trichorrhexis invaginata, and atopic diathesis. Ichthyosis presents at birth with erythroderma and subsequently evolves into ichthyosis linearis circumflexa; hair shaft abnormalities tend to present later. The disorder is caused by loss-of-function mutations in the SPINK5 (serine protease inhibitor Kazal-type 5) gene that encodes LEKTI (lympho-epithelial Kazal-type related inhibitor), which is a protease inhibitor that counteracts epidermal proteases involved in desquamation. Read More

Pediatr Dermatol 2015 Jan-Feb;32(1):147-8. Epub 2014 Dec 2.

Department of Dermatology and Sexually Transmitted Diseases, Lady Hardinge Medical College and Suchita Kriplani Hospital, Shaheed Bhagat Singh Marg, Delhi, India.

We report a unique presentation of Netherton syndrome with recurrent pustular eruptions leading to an erroneous diagnosis of infantile pustular psoriasis. Light microscopy of eyebrow hair showed trichorrhexis invaginata, consistent with Netherton syndrome. Read More

J Cutan Med Surg 2014 Jul-Aug;18(4):280-2

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. Read More

G Ital Dermatol Venereol 2013 Feb;148(1):37-51

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

Netherton syndrome (NS, OMIM 256500) is a rare autosomal recessive disorder manifesting with congenital ichthyosis, a specific hair shaft abnormality named trichorrhexis invaginata, and atopic manifestations. Because of severe complications frequently occurring in the neonatal period, NS prognosis can be poor in infancy. NS is due to loss-of-function mutations in the SPINK5 gene and to the consequent lack of expression of its encoded protein LEKTI in the skin and all stratified epithelial tissues. Read More

Indian J Dermatol 2012 Jul;57(4):265-8

Department of Dermatology, Guangzhou Institute of Dermatology, Guangzhou 510095, People's Republic of China.

Background: Netherton syndrome (NS) is a severe autosomal recessive ichthyosis. It is characterized by congenital ichthyosiform erythroderma, trichorrhexis invaginata, ichthyosis linearis circumflexa, atopic diathesis, and frequent bacterial infections. The disease is caused by mutations in the SPINK5 (serine protease inhibitor Kazal-type 5) gene, a new type of serine protease inhibitor involved in the regulation of skin barrier formation and immunity. Read More

Clin Exp Dermatol 2012 Jun;37(4):364-6

Department of Dermatology, Hôtel-Dieu de France, Ashrafieh, Beirut, Lebanon.

Netherton syndrome (NS) is a rare and severe autosomal recessive ichthyosis. We report the case of a patient with NS treated successfully with narrowband ultraviolet B (NB-UVB) phototherapy after failure of low-dose oral isotretinoin. A 16-year-old girl born to consanguineous parents presented with severe ichthyosis. Read More