155 results match your criteria Trichorrhexis Nodosa


Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.

PLoS Genet 2019 05 24;15(5):e1008143. Epub 2019 May 24.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

Maintenance of the correct redox status of iron is functionally important for critical biological processes. Multicopper ferroxidases play an important role in oxidizing ferrous iron, released from the cells, into ferric iron, which is subsequently distributed by transferrin. Two well-characterized ferroxidases, ceruloplasmin (CP) and hephaestin (HEPH) facilitate this reaction in different tissues. Read More

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Trichoscopy in the Differential Diagnosis of Pseudonits.

Skin Appendage Disord 2019 Apr 3;5(3):142-145. Epub 2019 Jan 3.

Dermatology Clinic, University of Catania, Catania, Italy.

Aim: The purpose of the study was to describe the trichoscopic features of pseudonits and to assess the usefulness of trichoscopy in their differential diagnosis.

Methods: A retrospective study was performed on those patients seen for the suspicion of head or pubic lice and who underwent trichoscopy with polarized light at ×10 magnification for a more accurate diagnosis. Forty-two patients (28 males/14 females, mean age: 34. Read More

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Pili Annulati with Severe Trichorrhexis Nodosa: A Case Report and Review of the Literature.

Skin Appendage Disord 2019 Feb 23;5(2):114-116. Epub 2018 Jul 23.

Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida, USA.

Pili annulati is generally classified as a hair shaft disorder without fragility. However, increased susceptibility to weathering is common. Severe breakage due to trichorrhexis nodosa is uncommon. Read More

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February 2019

A Case of Friction Alopecia in a Healthy 15-Year-Old Girl.

Skin Appendage Disord 2019 Feb 25;5(2):97-99. Epub 2018 Jul 25.

Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida, USA.

Friction alopecia is a non-scarring alopecia that causes hair breakage and may cause trichorrhexis nodosa. We report a case of a 15-year-old girl with self-inflicting friction alopecia that demonstrated broken hairs and proximal trichorrhexis nodosa on dermoscopy. We review various causes of friction alopecia and clinical findings, as well as trichorrhexis nodosa. Read More

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February 2019

Acquired trichorrhexis nodosa: how to diagnose it?

Dermatol Online J 2018 Nov 15;24(11). Epub 2018 Nov 15.

Cátedra de Dermatología, Hospital de Clínicas, Dr. Manuel Quintela, Montevideo.

Acquired trichorrhexis nodosa is an uncommon hair disorder, defined as a cuticle response to extrinsic or environmental insults, such as certain chemical agents. In the following report, we present a clinical case of acquired trichorrhexis nodosa and make a critical comparison by trichoscopy, optical microscopy, and scanning electron microscopy. Some diagnostic tools can provide high quality information, but their high cost and low access make them an inconvenient option. Read More

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November 2018

Primary Congenital Trichorrhexis Nodosa with Nevus Achromicus: A Rare Presentation.

Int J Trichology 2018 Jul-Aug;10(4):186-188

Department of Dermatology, Venereology and Leprology, Mahatma Gandhi Medical College and Research Institute, Puducherry, India.

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November 2018

A Case of Progressive Evolution of Multiple Woolly Hair Nevi in a Child.

Int J Trichology 2018 Jul-Aug;10(4):180-182

Department of Dermatology, Venereology and Leprosy, Seth G S. Medical College and KEM Hospital, Mumbai, Maharashtra, India.

Woolly hair nevus is a rarely acquired disorder of the scalp hair with well-circumscribed patch of curly and unruly hairs which are smaller in diameter than normal surrounding hair. We report a case of progressively evolving multiple woolly hair nevi in a 10-year-old child. Trichoscopy of unruly hairs showed abnormal kinking of hair shafts. Read More

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November 2018

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

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October 2018

Painful callosities in a young boy.

Pediatr Dermatol 2018 Jul;35(4):509-510

Clinical Hospital of the Federal University of Parana, Curitiba, Parana, Brazil.

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Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.

J Hum Genet 2018 Jul 17;63(8):911-917. Epub 2018 May 17.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

Argininosuccinic aciduria (ASA), which is considered to be the second most common urea cycle disorder (UCD), is caused by an argininosuccinate lyase deficiency and is biochemically characterized by elevation of argininosuccinic acid and arginine deficiency. In addition to hyperammonemia, other characteristic features of ASA include hepatic fibrosis, hypertension, neurocognitive deficiencies, and trichorrhexis nodosa. Herein, we retrospectively reviewed the clinical findings, biochemical profiles, and genotypic characteristics of five Korean patients with ASA, who showed typical phenotypes and biochemical findings of the disease. Read More

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Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report.

Medicine (Baltimore) 2017 Nov;96(46):e8601

aDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto bDepartment of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine, Sapporo cDepartment of Gastroenterology and Hepatology, Kyoto University Graduate School of Medicine dDepartment of Medical Supply, Kyoto University Hospital, Kyoto eDepartment of Pediatrics, Kobe City Medical Center General Hospital, Kobe fDivision of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan.

Rationale: Tricho-hepato-enteric syndrome (THES) is a rare disorder caused by mutations in the TTC37 or SKIV2L genes and characterized by chronic diarrhea, liver disease, hair abnormalities, and high mortality in early childhood due to severe infection or liver cirrhosis.

Patient Concerns: The patient is the second child of three siblings born to non-consanguineous healthy Japanese parents. She had intrauterine growth retardation and was delivered at 33 weeks of gestation due to placental abruption. Read More

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November 2017

Trichoscopy of an Isolated Trichorrhexis Nodosa: A Case Report.

Indian Dermatol Online J 2017 Sep-Oct;8(5):386-387

Department of Dermatology, S. Nijalingappa Medical College, Bagalkot, Karnataka, India.

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October 2017

Hair Loss: Common Causes and Treatment.

Am Fam Physician 2017 Sep;96(6):371-378

Washington Health Systems Family Medicine Residency, Washington, PA, USA.

Hair loss is often distressing and can have a significant effect on the patient's quality of life. Patients may present to their family physician first with diffuse or patchy hair loss. Scarring alopecia is best evaluated by a dermatologist. Read More

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September 2017

Hair and scalp disorders in adult and pediatric patients with skin of color.

Cutis 2017 Jul;100(1):31-35

Callender Dermatology and Cosmetic Center, Glenn Dale, Maryland, USA.

As increasing numbers of patients of African descent seek treatment for hair and scalp-related diseases, it is imperative that all dermatologists be adequately trained to address the concerns of this patient population. We present must-know information to effectively approach the concerns of patients with seborrheic dermatitis, acquired trichorrhexis nodosa, acne keloidalis nuchae, pseudofolliculitis barbae, alopecia, and common pediatric hair and scalp disorders. Read More

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Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis.

Clin Case Rep 2017 07 1;5(7):1152-1154. Epub 2017 Jun 1.

Department of Dermatology University of Massachusetts Medical School 281 Lincoln Street Worcester 01605 Massachusetts.

We report a case of Noonan syndrome with loose anagen hair (NS/LAH), a rare variant of Noonan syndrome, with associated trichorrhexis nodosa and trichoptilosis. The mutation may be responsible for these additional hair shaft defects, revealing the importance of microscopic examination of hairs in these patients. Read More

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Trichoscopy of scalp dysesthesia.

Postepy Dermatol Alergol 2017 Jun 29;34(3):245-247. Epub 2017 May 29.

Department of Dermatology, Medical University of Warsaw, Warsaw, Poland.

Introduction: Scalp dysesthesia is characterized by localized pruritus, burning sensations or even pain.

Aim: To describe characteristic trichoscopic features of scalp dysesthesia.

Material And Methods: The study was a retrospective analysis (2010-2016) of 9 patients (8 females and 1 male; median age: 52 years; range: 38-66 years). Read More

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Trichorrhexis nodosa due to repetitive trivial trauma.

Indian J Dermatol Venereol Leprol 2017 Nov-Dec;83(6):683

Department of Dermatology, Lokmanya Tilak Municipal General Hospital, Sion Hospital, Mumbai, Maharashtra, India.

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November 2018

Updates in the understanding and treatments of skin & hair disorders in women of color.

Int J Womens Dermatol 2017 Mar 16;3(1 Suppl):S21-S37. Epub 2017 Feb 16.

Department of Dermatology, Howard University College of Medicine, Washington, District of Columbia.

Skin of color comprises a diverse and expanding population of individuals. In particular, women of color represent an increasing subset of patients who frequently seek dermatologic care. Acne, melasma, and alopecia are among the most common skin disorders seen in this patient population. Read More

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Breaking the cycle of hair breakage: pearls for the management of acquired trichorrhexis nodosa.

J Dermatolog Treat 2017 Jun 28;28(4):322-326. Epub 2016 Oct 28.

b Department of Dermatology , Johns Hopkins School of Medicine , Baltimore , MD , USA.

Acquired trichorrhexis nodosa (TN) is a common cause of hair loss for patients of all ethnicities. It is especially prevalent in black patients with tightly curled hair types and can present unique diagnostic and therapeutic challenges due to structural differences in these hair types and the combination of various hair care and styling practices that contribute to hair damage. While scalp biopsies can help rule out other etiologies of hair loss, there is a paucity of histologic findings in acquired TN, making this primarily a clinical diagnosis. Read More

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Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II.

Pediatr Dermatol 2016 Sep 13;33(5):481-7. Epub 2016 Jun 13.

Department of Dermatology and Cutaneous Surgery, Miller School of Medicine, University of Miami, Miami, Florida.

Hair shaft disorders are characterized by congenital or acquired abnormalities of the hair shaft. The objective of this study was to review the literature regarding the prognosis and treatment options for hair shaft disorders. We used keywords in the search engines PubMed and Medline to identify all publications in English related to the prognosis and management of hair shaft disorders. Read More

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September 2016

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

Pediatr Dermatol 2016 Sep 13;33(5):473-80. Epub 2016 Jun 13.

Department of Dermatology and Cutaneous Surgery, Miller School of Medicine, University of Miami, Miami, Florida.

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. Read More

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September 2016

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

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Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.

Medicine (Baltimore) 2016 Mar;95(9):e2918

From the Primary Immunodeficiency Care and Research (PICAR) Institute (W-IL, J-LH) and Division of Allergy, Asthma, and Rheumatology, Department of Pediatrics, Chang Gung Memorial Hospital, Chang Gung University College of Medicine (W-IL, J-LH, T-HJ, L-SO); and Division of Gastroenterology (C-CC), Division of Genetics and Endocrinology (J-LL), Division of Hematology/Oncology, Department of Pediatrics (T-HJ), and Department Pathology, Chang Gung Memorial Hospital (R-CW), Taoyuan, Taiwan.

Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare, autosomal recessive and severe bowel disorder mainly caused by mutations in the tetratricopeptide repeat domain 37 (TTC37) gene which act as heterotetrameric cofactors to enhance aberrant mRNAs decay. The phenotype and immune profiles of SD/THE overlap those of primary immunodeficiency diseases (PIDs). Neonates with intractable diarrhea underwent immunologic assessments including immunoglobulin levels, lymphocyte subsets, lymphocyte proliferation, superoxide production, and IL-10 signaling function. Read More

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Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).

Am J Med Genet C Semin Med Genet 2016 Mar 9;172C(1):44-51. Epub 2016 Feb 9.

Goltz syndrome, caused by mutations in PORCN, is an X-linked dominant ectodermal dysplasia which is also known as focal dermal hypoplasia. This name is derived from the predominant pathologic skin findings of the syndrome. Nineteen Goltz-affected participants attended a multidisciplinary scientific and clinical conference convened by the National Foundation for Ectodermal Dysplasia which allowed further characterization of the features of this very rare condition. Read More

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Ethnic hair disorders.

Curr Probl Dermatol 2015 20;47:139-49. Epub 2015 Feb 20.

The management of hair and scalp conditions is difficult in any patient, especially given the emotional and psychological implications of hair loss. This undertaking becomes even more challenging in the ethnic patient. Differences in hair care practices, hair shaft morphology, and follicular architecture add complexity to the task. Read More

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Hair loss in children.

Curr Probl Dermatol 2015 20;47:55-66. Epub 2015 Feb 20.

Hair diseases represent frequent complaints in dermatology clinics, and they can be caused by a number of conditions reflected by specific diagnoses. Hair loss is not uncommon in the pediatric group, but its patterns in this group are different from those seen in adults. Additionally, in children, these disorders can have psychological effects that can interfere with growth and development. Read More

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Trichorrhexis nodosa: a distinctive presentation after tumour necrosis factor-α inhibitor therapy.

Clin Exp Dermatol 2016 Apr 24;41(3):313-4. Epub 2015 Jul 24.

Dermatology Department, Brighton and Sussex University Hospitals NHS Trust, Brighton General Hospital, Elm Grove Brighton, BN2 3EW, UK.

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Updates in the understanding and treatments of skin & hair disorders in women of color.

Int J Womens Dermatol 2015 Jun 27;1(2):59-75. Epub 2015 May 27.

Department of Dermatology, Howard University College of Medicine, Washington, District of Columbia.

Skin of color comprises a diverse and expanding population of individuals. In particular, women of color represent an increasing subset of patients who frequently seek dermatologic care. Acne, melasma, and alopecia are among the most common skin disorders seen in this patient population. Read More

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Trichoscopic Hair Evaluation in Patients with Ectodermal Dysplasia.

J Pediatr 2015 Jul 30;167(1):193-5. Epub 2015 Apr 30.

Department of Orthodontics, Medical University of Warsaw, Warsaw, Poland.

Hair abnormalities in ectodermal dysplasia may be difficult to identify. Among 16 patients with ectodermal dysplasia trichoscopy (hair dermoscopy) revealed predominance of pilosebaceous units with 1 hair (69%), abnormalities of hair shaft pigmentation (gray hair with single dark hairs, 56%), pili torti, trichothiodystrophy, trichorrhexis nodosa, and rarely, cicatricial alopecia. Read More

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