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

    1 OF 2

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

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

    Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum.
    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

    Recurrent pustular eruption masquerading as pustular psoriasis in Netherton syndrome.
    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

    Rapid and easy diagnosis of Netherton syndrome with dermoscopy.
    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

    Netherton syndrome and its multifaceted defective protein LEKTI.
    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

    Netherton syndrome in one Chinese adult with a novel mutation in the SPINK5 gene and immunohistochemical studies of LEKTI.
    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

    Narrowband ultraviolet B phototherapy associated with improvement in Netherton syndrome.
    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

    [Netherton syndrome--a rare form of inherited ichtyosis].
    Duodecim 2012 ;128(1):88-93
    Seinäjoen keskussairaala.
    Netherton syndrome is a rare skin disease classified into ichtyoses. It has a recessive pattern of inheritance. It is associated with scaly erythrodermia, bamboo hair defect, immunological abnormalities of varying severity, IgE-mediated allergic reactions, infections and defective temperature regulation that often leads to retarded growth and development of a newborn. Read More

    New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome.
    Clin Exp Dermatol 2011 Jun 24;36(4):412-5. Epub 2010 Dec 24.
    Genetic Skin Disease Group, St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
    Netherton syndrome (NS) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the SPINK5 gene. The clinical features include congenital ichthyosis, trichorrhexis invaginata and atopy. In this study, we report a new homozygous SPINK5 mutation, p. Read More

    Specific blockage of caspase-1 activation by purple bamboo-salt prevents apoptosis of auditory cell line, HEI-OC1.
    J Med Food 2011 Jan-Feb;14(1-2):53-61. Epub 2010 Dec 4.
    Biochip Research Center, Hoseo University, Asan, Chungnam, Republic of Korea.
    Cisplatin is a highly effective chemotherapeutic agent but with significant ototoxic side effects. Apoptosis is an important mechanism of cochlear hair cell loss following exposure to an ototoxic level of cisplatin. The present study investigated the effects of purple bamboo-salt (BS) on cisplatin-induced apoptosis. Read More

    Ameliorative effect of purple bamboo salt-pharmaceutical acupuncture on cisplatin-induced ototoxicity.
    Acta Otolaryngol 2011 Jan 19;131(1):14-21. Epub 2010 Oct 19.
    Acupuncture and Meridian Science Research Center, Kyung Hee University, Republic of Korea.
    Conclusion: Our findings demonstrated that purple bamboo salt (PBS)-pharmaceutical acupuncture has an ameliorative effect on cisplatin-induced ototoxicity.

    Objectives: We have previously reported that PBS exhibited anti-allergic and anti-inflammatory actions in vitro and in vivo. Pharmaceutical acupuncture is a traditional oriental therapeutic technique that combines acupuncture with herbal treatment. Read More

    Hair shaft videodermoscopy in netherton syndrome.
    Pediatr Dermatol 2009 May-Jun;26(3):320-2
    Department of Dermatology, CSK MSWiA, Warsaw, Poland.
    Netherton syndrome is an autosomal recessive disorder, characterized by ichthyosis, atopic manifestations, and hair shaft abnormalities (trichorrhexis invaginata). The diagnosis of Netherton syndrome may be established on the basis of just one abnormal hair, but it is often difficult to find a hair with pathognomonic features on light microscopic examination. Every attempt requires pulling new hairs. Read More

    Comèl-Netherton syndrome defined as primary immunodeficiency.
    J Allergy Clin Immunol 2009 Sep 14;124(3):536-43. Epub 2009 Aug 14.
    Dr v Haunersches Kinderspital, Ludwig-Maximilians-Universität, Munich, Germany.
    Background: Mutations in serine protease inhibitor Kazal-type 5 (SPINK5), encoding the serine protease inhibitor lympho-epithelial Kazal-type 5 related inhibitor (LEKTI), cause Comèl-Netherton syndrome, an autosomal-recessive disease characterized by congenital ichthyosis, bamboo hair, and atopic diathesis. Despite increased frequency of infections, the immunocompetence of patients with Comèl-Netherton syndrome has not been extensively investigated.

    Objective: To define Comèl-Netherton syndrome as a primary immunodeficiency disorder and to explore the benefit of intravenous immunoglobulin replacement therapy. Read More

    An infant with Netherton syndrome and persistent pulmonary hypertension requiring extracorporeal membrane oxygenation.
    Pediatr Dermatol 2008 May-Jun;25(3):368-72
    Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, California, USA.
    Netherton syndrome is a rare genodermatosis characterized by ichthyosiform scaling, hair shaft abnormalities, and atopic features. Affected infants typically have delayed growth and development, immune abnormalities with recurrent infections, and intermittent aminoaciduria. We report a 23-day-old girl who presented with severe primary pulmonary hypertension, exfoliative erythroderma, and trichorrhexis invaginata. Read More

    Youngest netherton patient with infantile asthma.
    Tuberk Toraks 2008 ;56(1):104-8
    Department of Children's Health and Diseases, Faculty of Medicine, Zonguldak Karaelmas University, Zonguldak, Turkey.
    Netherton syndrome is a very rare disorder characterized with icthyosis, atopy, bamboo hair and intermittant aminoaciduria. The specifity of clinical and histopathological features of netherton syndrome is low in neonates and young infants who presents with predominating erythrodermia. Being the youngest infant presenting with the symptoms of infantile asthma we found it worth to report a six months old girl presenting with the feature of severe respiratory distress, generalized erythrodermia, and brittle hair. Read More

    [Netherton syndrome].
    Actas Dermosifiliogr 2006 Jun;97(5):348-50
    Servicio de Dermatología, Hospital Niño Jesús, Madrid, España.
    Netherton syndrome is a rare disease inherited as an autosomal recessive trait due to mutations in the SPINK5 gene. It is characterized by the triad of ichthyosiform dermatosis, alterations of the hair shaft and immunological disorders. We present the case of a 12-year-old girl with the triad of ichthyosis linearis circumflexa, trichorrhexis invaginata and atopic dermatitis, characteristic of Netherton syndrome. Read More

    Netherton syndrome: a case report and review of the literature.
    Int J Dermatol 2006 Jun;45(6):693-7
    Department of Dermatology, Irvine College of Medicine, University of California, Orange, CA 92868, USA.
    Netherton syndrome is a rare disorder inherited in an autosomal recessive pattern consisting of ichthyosiform dermatosis, hair shaft abnormalities (trichorrhexis invaginata), and an atopic diathesis. Patients with Netherton syndrome have been found to have a mutation on chromosome 5q32 in a gene named SPINK5 (serine protease inhibitor, Kazal type-5), which encodes an inhibitor of serine proteases called LEKTI. We report a female patient with previously undiagnosed Netherton syndrome who presented to participate in a clinical research trial investigating the benefit of topical tacrolimus 0. Read More

    Netherton syndrome: report of identical twins presenting with severe atopic dermatitis.
    Eur J Pediatr 2006 Sep 3;165(9):594-7. Epub 2006 May 3.
    Department of Pediatrics, Division of Pediatric Allergy and Chest Diseases, Istanbul University, Istanbul Medical School, Istanbul, Turkey.
    We report the cases of 4-year-old identical twin sisters who presented with severe atopic dermatitis with intractable skin manifestations and multiple food allergies. Netherton syndrome (NS) (OMIM 256500) was suspected due to very high serum IgE levels, growth retardation, severe food allergies and typical hair finding (trichorrhexis invaginata). A definite diagnosis was made by genetic analysis. Read More

    Acute pancreatitis in a young girl with the Netherton syndrome.
    J Pediatr Surg 2005 Nov;40(11):e69-72
    Department of Surgery, Stavanger University Hospital, N-4068 Stavanger, Norway.
    Acute pancreatitis is uncommon in children younger than 15 years. We present the first report on the association of acute pancreatitis with the Netherton syndrome. The Netherton syndrome is an inherited skin disease characterized by ichthyosiform erythroderma, a pathognomonic hair shaft defect ("bamboo hair"), and atopic features. Read More

    Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules.
    Br J Dermatol 2005 Nov;153(5):1026-30
    Department of Dermatology, Niigata University School of Medicine, Asahimachi-dori, Niigata 951-8510, Japan.
    Background: Netherton syndrome (NS) is a severe autosomal recessive disorder characterized by ichthyosiform erythroderma, bamboo hair and atopy. The disease is caused by mutations in the SPINK5 gene, which encodes a putative serine protease inhibitor, LEKTI (lymphoepithelial Kazal-type-related inhibitor). Previous studies have clearly shown a crucial role for LEKTI in skin barrier formation. Read More

    Netherton syndrome: report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5.
    Br J Dermatol 2005 Jan;152(1):159-65
    Department of Dermatology, School of Medicine, National Cheng Kung University, 138 Sheng-Li Road, Tainan, Taiwan.
    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. Pathogenic mutations in SPINK5 have recently been identified in NS. Read More

    LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome.
    Br J Dermatol 2004 Dec;151(6):1253-7
    Department of Paediatric Dermatology, Institute of Child Health, 30 Guildford Street, London WC1N 1EH, U.K.
    Background: Netherton syndrome (NS) is a rare autosomal recessive condition characterized by ichthyosiform erythroderma, trichorrhexis invaginata and atopic manifestations. Confirming the diagnosis may be difficult in the early stages. Mutations in the SPINK5 gene which encodes for the serine protease inhibitor LEKTI are associated with NS. Read More

    A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome.
    J Formos Med Assoc 2003 Jun;102(6):418-23
    Department of Dermatology, National Cheng Kung University Hospital, Tainan, Taiwan.
    Netherton syndrome (NS) is a severe, autosomal, recessive ichthyosis. It is characterized by congenital ichthyosiform erythroderma (CIE), trichorrhexis invaginata (TI) - a distinctive hair-shaft anomaly, and atopic diathesis. Recently, pathogenic mutations were identified in serine protease inhibitor Kazal-type 5 (SPINK5), the gene that encodes lympho-epithelial Kazal-type-related inhibitor (LEKTI), a recently identified type of serine protease inhibitor involved in the regulation of skin barrier formation and immunity. Read More

    Early development of multiple epithelial neoplasms in Netherton syndrome.
    Dermatology 2003 ;207(2):182-4
    Department of Dermatology, University General Hospital of Heraklion, Heraklion, Greece.
    We report a case of Netherton syndrome manifested as congenital ichthyosiform erythroderma, trichorrhexis invaginata and atopy, who in early adulthood developed multiple, aggressive epithelial neoplasms in sun-exposed areas of the skin, in areas with papillomatous skin hyperplasia and at the left parotid region. The occurrence of cutaneous neoplasia has been reported in syndromes with congenital ichthyosis and suggests that the underlying genetic defects may cause the development of cancer in prone patients. Read More

    Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population.
    Br J Dermatol 2003 Apr;148(4):665-9
    Department of Dermatology, Osaka City University Graduate School of Medicine, 1-4-3 Asahimachi Abenoku, Osaka 545-8585, Japan.
    Background: Netherton's syndrome (NS) is an autosomal recessive disorder characterized by trichorrhexis invaginata ('bamboo hair'), congenital ichthyosiform erythroderma and an atopic diathesis. NS has recently been shown to be due to a defect in the SPINK5 gene, encoding LEKTI, a 15-domain serine protease inhibitor. SPINK5 maps to chromosome 5q31-q32, and has been suggested to be a locus predisposing to atopy in general. Read More

    [Netherton syndrome with recurrent herpes of facial skin].
    Med Arh 2002 ;56(4):221-4
    Dermatoveneroloska klinika Klinickog centra Univerziteta u Sarajevu.
    In this paper the author presents the case of a girl with the typical Netherton's syndrome associated with herpes simplex recidivans. There was no relevans family history. In the first of life her skin appeared erythrodermic and diagnosis of atopic dermatitis was established. Read More

    [Netherton's syndrome in two sisters].
    Ned Tijdschr Geneeskd 2002 Jun;146(23):1087-90
    Afd. Kindergeneeskunde, Vrije Universiteit Medisch Centrum, Postbus 7057, 1007 MB Amsterdam.
    Two girls, sisters aged 4.5 years and 6 months, had experienced serious erythrodermia since birth, with scarcely any hair growth and they exhibited poor growth despite a hypoallergenic diet. On the basis of the dermatological condition ichthyosis linearis circumflexa and microscopic examination of a hair shaft in which trichorrhexis invaginata (bamboo hair) was observed, the diagnosis of Netherton's syndrome was established. Read More

    Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing.
    Br J Dermatol 2002 Mar;146(3):495-9
    Department of Dermatology, University of Cologne, Germany.
    Netherton syndrome (NS) is a rare autosomal recessive disease with variable expression. It is defined by a triad of symptoms: congenital ichthyosiform erythroderma, trichorrhexis invaginata and atopy. Recently, genetic linkage has been established to the SPINK5 gene locus on chromosome 5q32 encoding the serine protease inhibitor LEKTI. Read More

    Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
    J Invest Dermatol 2002 Feb;118(2):352-61
    Wellcome Trust Center for Human Genetics, Oxford, UK.
    Netherton syndrome is a severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Recently, we identified SPINK5, which encodes the serine protease inhibitor Kazal-type 5 protein (LEKTI), as the defective gene in Netherton syndrome. Here we describe the intron-exon organization of the gene and characterize the SPINK5 mutations in patients from 21 families of different geographic origin, using denaturing high performance liquid chromatography and direct sequencing. Read More

    Severe hypernatremic dehydration in an infant with Netherton syndrome.
    Genet Couns 2001 ;12(3):237-43
    Service de Génétique Médicale, Centre Hospitalo-Universitaire, Strasbourg, France.
    Netherthon syndrome is a rare autosomal recessive disease characterized by ichthyosis, the characteristic hair abnormality trichorrhexis invaginata and atopic manifestations. We report a female child with the severe hypernatremic dehydration form of the Netherton syndrome born as the first child of consanguineous parents. Ichthyosis was present at birth. Read More

    Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.
    Am J Hum Genet 2000 Mar;66(3):914-21
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
    Netherton syndrome (NS [MIM 256500]) is a rare and severe autosomal recessive disorder characterized by congenital ichthyosis, a specific hair-shaft defect (trichorrhexis invaginata), and atopic manifestations. Infants with this syndrome often fail to thrive; life-threatening complications result in high postnatal mortality. We report the assignment of the NS gene to chromosome 5q32, by linkage analysis and homozygosity mapping in 20 families affected with NS. Read More

    Altered lamellar body secretion and stratum corneum membrane structure in Netherton syndrome: differentiation from other infantile erythrodermas and pathogenic implications.
    Arch Dermatol 1999 Jul;135(7):823-32
    Department of Dermatology, University of Erlangen/Nuremberg, Erlangen, Germany.
    Background: The infant with Netherton syndrome (NS) typically displays a generalized erythroderma covered by fine, translucent scales, which can be difficult to distinguish clinically from erythrodermic psoriasis, nonbullous congenital ichthyosiform erythroderma, or other infantile erythrodermas. Some infants with NS develop progressive hypernatremic dehydration, failure to thrive, and enteropathy. Such complications can be fatal. Read More

    [Comèl-Netherton syndrome].
    Hautarzt 1998 Jun;49(6):499-504
    Hautklinik, am Klinikum Nürnberg-Nord.
    The Comèl-Netherton syndrome is a rare autosomal recessive hereditary disease. A 23-year old female presented with the classical triad of ichthyosis linearis circumflexa, trichorrhexis invaginata with bamboo hairs of up to 12 cm length and atopic diathesis. Nevertheless, more than 20 years passed before the final diagnosis was established. Read More

    [Neurocutaneous syndrome with hair alterations].
    Rev Neurol 1997 Sep;25 Suppl 3:S243-9
    Departamento de Dermatología, Facultad de Medicina, Universidad de Sevilla, España.
    There are multiple neurocutaneous syndromes that may show hair alterations such as the interglabellar peak or 'widow's peak', which is an alteration of the hair implantation, in addition to the genohypotrichosis, hypertrichosis and hair shaft dysplasias. In this chapter we will focus on the latter. Out of the unspecific hair shaft dysplasias the only ones showing neurological alterations are trichorrhexis invaginata, observed in the syndrome of Netherton. Read More

    Netherton's syndrome and neonatal hypernatremia. A case report.
    Turk J Pediatr 1997 Jul-Sep;39(3):409-13
    Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
    Netherton's syndrome is characterized by ichthyosiform desquamation, bamboo hair and often atopic diathesis. It is transmitted as an autosomal-recessive trait. In this paper we report a baby with Netherton's syndrome who developed hypernatremia during the neonatal period. Read More

    Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome.
    Pediatr Dermatol 1996 May-Jun;13(3):183-99
    Department of Dermatology, University of Heidelberg, Germany.
    We examined skin biopsy specimens from 17 of 19 newborns or infants with generalized ichthyosiform, exfoliative, seborrheic, or psoriasiform erythroderma. The specimens showed similar characteristic but nonspecific and therefore, at first sight, uninformative histologic features. Morphologically, the skin was affected overall with a persistent outbreak of eczema-like eruptions of subacute or chronic dermatitis. Read More

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