Search our Database of Scientific Publications and Authors

I’m looking for a

    141 results match your criteria Trichorrhexis Nodosa

    1 OF 3

    Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis.
    Clin Case Rep 2017 Jul 1;5(7):1152-1154. Epub 2017 Jun 1.
    Department of DermatologyUniversity of Massachusetts Medical School281 Lincoln StreetWorcester01605Massachusetts.
    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 SHOC2 mutation may be responsible for these additional hair shaft defects, revealing the importance of microscopic examination of hairs in these patients. Read More

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome.
    Front Pediatr 2015 16;3:28. Epub 2015 Apr 16.
    Department of Immunology, Allergy and Rheumatology, Baylor College of Medicine, Texas Children's Hospital , Houston, TX , USA.
    [This corrects the article on p. 2 in vol. 3, PMID: 25688341. Read More

    Pili Annulati and Trichorrhexis Nodosa in the Same Patient: Cause or Coincidence?
    Skin Appendage Disord 2015 Mar 11;1(1):25-7. Epub 2015 Feb 11.
    Department of Dermatology, University of São Paulo, São Paulo, Brazil.
    Purpose: To determine the relationship between pili annulati (PA) and acquired trichorrhexis nodosa (TN) seen in the same patient, considering the two main theories evoked by previous studies: greater stiffness of darker PA bands or associated cuticular damage.

    Procedures: Light microscopy of hair shafts from different regions of the patient's scalp.

    Results: TN was not superimposed to dark bands of PA. Read More

    Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome.
    Front Pediatr 2015 30;3. Epub 2015 Jan 30.
    Department of Immunology, Allergy and Rheumatology, Baylor College of Medicine, Texas Children's Hospital , Houston, TX , USA.
    Unbiased genetic diagnosis has increasingly associated seemingly unrelated somatic and immunological phenotypes. We report a male infant who presented within the first year of life with physical growth impairment, feeding difficulties, hyperemesis without diarrhea, and abnormal hair findings suggestive of trichorrhexis nodosa. With advancing age, moderate global developmental delay, susceptibility to frequent viral illnesses, otitis media, and purulent conjunctivitis were identified. Read More

    Hereditary hypotrichosis simplex of the scalp.
    Indian J Dermatol 2014 Nov;59(6):634
    Department of Dermatology, Skin Research Center, Shahid Beheshti University of Medical Sciences, Shohada-e Tajrish Hospital, Tehran, Iran.
    Hereditary hypotrichosis simplex of the scalp is a genetic disorder, characterized by sparse or absent scalp hair without structural defects, in the absence of other ectodermal or systemic abnormalities. Structural hair defects may be presented with a genetic disorder affecting hair growth or part of a congenital syndrome or may indicate underlying metabolic disorders, or may be associated with other diseases. We describe a 26-years-old Persian girl suffering from hypotrichosis simplex of the scalp with trichorrhexis nodosa who had no ectodermal defects and systemic disease. Read More

    Recurrent hair loss resulting from generalized proximal trichorrhexis nodosa in a nigerian female.
    Int J Trichology 2014 Apr;6(2):83-4
    Department of Medicine, University of Ibadan, Ibadan, Oyo, Nigeria.
    Hair and scalp disorders commonly seen in the African female have been associated with hair care practices. Distal trichorrhexis nodosa (TN) has been commonly reported with various forms of trauma to the hair from hair grooming practices. We report the case of recurrent generalized hair loss resulting from proximal TN in a 28-year-old Nigerian female with atopy. Read More

    Alopecia in genetic diseases.
    G Ital Dermatol Venereol 2014 Feb;149(1):1-13
    Department of Internal Medicine and Medical Specialties, Unit of Dermatology Sapienza University, Rome, Italy -
    Congenital abnormalities of the hair shaft are conditions in most cases linked to chemical, biochemical, and morphological alterations, genetically determined. These alterations may be associated with a larger array of symptoms, as mentioned above, or may occur isolated. The number of genes involved and their penetration are responsible for the mode of transmission, severity, and phenotypic expression of the disease. Read More

    Noninflammatory, nonpruritic alopecia of horses.
    Vet Clin North Am Equine Pract 2013 Dec 10;29(3):629-41. Epub 2013 Oct 10.
    Department of Clinical Sciences, Colorado State University, 300 West Drake, Fort Collins, CO 80523, USA. Electronic address:
    Noninflammatory, nonpruritic alopecias are uncommonly encountered in the horse. Alopecia areata, an apparently autoimmune hair follicle bulbitis produces focal, multifocal to widespread hair loss. The skin is otherwise normal. Read More

    Light microscopic hair abnormalities in children: retrospective review of 119 cases in a 10-year period.
    Pediatr Dev Pathol 2014 Jan-Feb;17(1):36-43. Epub 2013 Nov 19.
    1  Department of Pathology, Children's Mercy Hospitals and Clinics, Kansas City, MO, USA.
    Abnormalities in the hair can be congenital or acquired conditions. Examples of genetic disorders with associated hair abnormalities include Menkes syndrome, Netherton syndrome, uncombable hair syndrome, trichothiodystrophy, and loose anagen hair syndrome. Acquired hair abnormalities can be associated with grooming or use of various hair products. Read More

    Hair shafts in trichoscopy: clues for diagnosis of hair and scalp diseases.
    Dermatol Clin 2013 Oct;31(4):695-708, x
    Department of Dermatology, CSK MSW, Woloska 137, Warsaw 02-507, Poland; Department of Neuropeptides, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, Warsaw 02-106, Poland; Department of Dermatology, Medical University of Warsaw, Koszykowa 82A, Warsaw 02-008, Poland.
    Trichoscopy (hair and scalp dermoscopy) analyzes the structure and size of growing hair shafts, providing diagnostic clues for inherited and acquired causes of hair loss. Types of hair shaft abnormalities observed include exclamation mark hairs (alopecia areata, trichotillomania, chemotherapy-induced alopecia), Pohl-Pinkus constrictions (alopecia areata, chemotherapy-induced alopecia, blood loss, malnutrition), comma hairs (tinea capitis), corkscrew hairs (tinea capitis), coiled hairs (trichotillomania), flame hairs (trichotillomania), and tulip hairs (in trichotillomania, alopecia areata). Trichoscopy allows differential diagnosis of most genetic hair shaft disorders. Read More

    Hair and scalp disorders in ethnic populations.
    J Drugs Dermatol 2013 Apr;12(4):420-7
    Department of Dermatology, Howard University College of Medicine, Washington, DC, USA.
    Human hair has been classified into 3 major groups, as determined by ethnic origin. In these populations, significant structural and biochemical variations of the hair follicle and shaft are seen, as well as unique hair grooming practices. These structural variations of the hair are closely linked to the common disorders of the hair and scalp, such as acquired trichorrhexis nodosa, seborrheic dermatitis, traction alopecia, central centrifugal cicatricial alopecia, dissecting cellulitis, frontal fibrosing alopecia, and pseudofolliculitis barbae. Read More

    Dermoscopy for the pediatric dermatologist part I: dermoscopy of pediatric infectious and inflammatory skin lesions and hair disorders.
    Pediatr Dermatol 2013 Mar-Apr;30(2):163-71. Epub 2013 Feb 14.
    Memorial Sloan Kettering Cancer Center, Hauppauge, New York 11788, USA.
    The dermoscope allows physicians to examine the macroscopic and microscopic primary morphology of skin lesions, identify subtle clinical clues, confirm naked-eye clinical diagnoses, and monitor treatment progress while posing little threat to the young patient. This review summarizes important dermoscopic structures seen in infectious and inflammatory skin conditions and hair disorders in children. Scabies, pediculosis, phthiriasis, molluscum contagiosum, tinea nigra, and verrucae are well characterized dermoscopically by delta-shaped structures, ovoid-shaped nits, the crab louse, red corona, brown strands or spicules, and multiple densely packed papilla with a central black dot surrounded by a whitish halo, respectively. Read More

    Trichoscopy update 2011.
    J Dermatol Case Rep 2011 Dec;5(4):82-8
    Department of Dermatology, CSK MSWiA, Warsaw, Poland.
    Trichoscopy performed with a handheld dermoscope or a videodermoscope became an indispensable tool in differential diagnosis of hair and scalp diseases. Current research is focusing on trichoscopy of: 1) non-cicatricial alopecia, 2) cicatricial alopecia, 3) hair shaft disorders, and 4) inflammatory scalp diseases. This review summarizes current knowledge in these four fields of research. Read More

    Trichorrhexis nodosa with nail dystrophy: diagnosis by dermoscopy.
    Int J Trichology 2011 Jul;3(2):105-6
    Department of Dermatolgy, Seth GSMC and KEM, Hospital, Parel, Mumbai, Maharashtra, India.
    A 25-year-old male, born of non-consanguineous marriage presented with complaints of sparse and thin hairs over scalp and dystrophy of nails since childhood. This case highlights the association of trichorrhexis nodosa with nail dystrophy and the use of trichoscopy as a noninvasive method for diagnosis of hair disorders. Read More

    A novel heterozygous point mutation in the p63 gene in a patient with ectodermal dysplasia associated with B-cell leukemia.
    Pediatr Dermatol 2011 Nov-Dec;28(6):707-10. Epub 2011 Sep 9.
    Department of Dermatology, Complejo Hospitalario Arquitecto Marcide-Novoa Santos, Ferrol, Spain.
    We report a 7-year-old boy with a past medical history of B-cell leukemia with dysmorphic features, including cleft palate, hypotrichosis with trichorrhexis nodosa, hypohidrosis, oligodontia, and ridging of nails. A heterozygous germline mutation, Ala111Thr, in the p63 gene was detected in the boy and in his mother, who had no clinical expression. This case emphasizes the spectrum of different phenotypical manifestations of mutations in the p63 gene and underlines the possible role of this gene as a tumor suppressor. Read More

    Localised acquired trichorrhexis nodosa of the scalp hair induced by a specific comb and combing habit - a report of three cases.
    Int J Trichology 2011 Jan;3(1):34-7
    Department of Dermatology, Baby Memorial Hospital, Calicut, Kerala, India.
    Trichorrhexis nodosa is a hair shaft disorder often encountered in clinical practice. Acquired trichorrhexis is commoner of the two types and is most often due to weathering from physical or chemical causes. We report three representative cases of localized acquired trichorrhexis encountered in our clinic attributable to a specific comb, used commonly in Kerala, a Southern state of India. Read More

    Plica Neuropathica (Plica polonica) Following Azathioprine-induced Pancytopenia.
    Int J Trichology 2010 Jul;2(2):110-2
    P. D. Hinduja Hospital, Mahim, Mumbai, India.
    A 54-yr-old woman, on azathioprine for interstitial lung disease, developed pancytopenia and presented with sudden onset of extensive hair loss from the scalp followed overnight by appearance of elongated broad mass of uncombable matted hair which had the typical appearance of Plica neuropathica. Microscopic examination of hair clipped from the matted mass revealed irregular, nodal, superficial fractures of the hair shaft resembling Trichorrhexis nodosa and irregular ruffling of the cuticles. The areas of cuticular damage appeared dark under polarized light. Read More

    Ectodermal abnormalities in patients with Kabuki syndrome.
    Pediatr Dermatol 2011 Sep-Oct;28(5):507-11. Epub 2011 Jun 22.
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
    Kabuki syndrome (KS) is extensively described in the literature and characterized by a typical facial gestalt in combination with postnatal short stature, hypotonia, joint laxity, developmental delay, persistent fetal fingertip pads, and an ever-growing group of congenital abnormalities. In this study, we focus on some ectodermal manifestations that we have observed. We studied seven patients who fulfilled the clinical criteria for KS and undertook a detailed clinical, dental, cytogenetic, and immunoglobulin assessments. Read More

    A biochemical study on the level of proteins and their percentage of nitration in the hair and nail of autistic children.
    Clin Chim Acta 2011 May 19;412(11-12):1036-42. Epub 2011 Feb 19.
    Department of Biochemistry, Bharathi Women's College (Affiliated to University of Madras), North Chennai, 600 108, Tamil Nadu, India.
    Background: Autism is a complex disorder which is heterogeneous in nature with varying degrees of severity for which no specific biological marker has been identified. Several studies are focused on the hair and nail protein pattern as a means to identify specific markers for the diagnosis of many childhood disorders like mental retardation, dyslexia, trichorrhexis nodosa, trichothiodystrophy, etc. The present study is one such approach in investigating the electrophoretic pattern of proteins in hard keratins and their percentage of nitration since nitric oxide production and nitration of tyrosine residues in proteins of autistic children are the emerging topic of research. Read More

    Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).
    Gastroenterology 2010 Jun 20;138(7):2388-98, 2398.e1-2. Epub 2010 Feb 20.
    Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental School, Institute of Biomedical Research, Edgbaston, Birmingham, UK.
    Background & Aims: Trichohepatoenteric syndrome (THES) is an autosomal-recessive disorder characterized by life-threatening diarrhea in infancy, immunodeficiency, liver disease, trichorrhexis nodosa, facial dysmorphism, hypopigmentation, and cardiac defects. We attempted to characterize the phenotype and elucidate the molecular basis of THES.

    Methods: Twelve patients with classic THES from 11 families had detailed phenotyping. Read More

    [Clinical and laboratory features of the Menkes disease].
    Zhonghua Er Ke Za Zhi 2009 Aug;47(8):604-7
    Department of Neurology and Rehabilitation, Beijing Children's Hospital Affiliated to Capital Medical University, Beijing 100045, China.
    Objective: To study the clinical and laboratory features of the patients with Menkes disease.

    Method: Three infants were diagnosed as Menkes disease. Their clinical feature, laboratory findings, radiological manifestation and genes were reviewed. Read More

    Chronic diarrhea and skin hyperpigmentation: a new association.
    Saudi J Gastroenterol 2008 Oct;14(4):187-91
    Department of Pediatric, Division of Pediatric Gastroenterology, University of Alberta, Edmonton, Canada.
    Background/aims: The objective of this study was to describe patients with chronic diarrhea and abnormal skin hyperpigmentation with distinct distribution.

    Methods: This is a retrospective review of children who presented with diarrhea and skin hyperpigmentation. The clinical presentation, laboratory investigations as well as endoscopic and histological data were reviewed. Read More

    Tricho-hepato-enteric syndrome presenting with mild colitis.
    Eur J Pediatr 2009 Aug 4;168(8):933-5. Epub 2008 Nov 4.
    Department of Pediatric Gastroenterology, Gazi University School of Medicine, Ankara, Turkey.
    Introduction: A four and half-year-old girl was admitted to our clinic with the complaints of diarrhea since birth and failure to thrive.

    Discussion: The characteristic findings in physical examination were facial dysmorphism, hepatomegaly, and wooly hair. Trichorrhexis nodosa was established in microscopic hair examination. Read More

    Syndromic (phenotypic) diarrhea in early infancy.
    Orphanet J Rare Dis 2008 Feb 28;3. Epub 2008 Feb 28.
    Pediatric Gastroenterology-Hepatology and Nutrition, Reference Center for Rare Digestive Disease, Hôpital Necker-Enfants Malades/AP-HP, University of Paris 5 - René Descartes, France.
    Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrition (PN). To date, no epidemiological data are available. The estimated prevalence is approximately 1/300,000-400,000 live births in Western Europe. Read More

    Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: two names for the same disorder.
    Am J Med Genet A 2007 Mar;143A(6):584-8
    Multidisciplinary Paediatric Department, Children Hospital of "La Timone", Boulevard Jean Moulin, Marseille Cedex, France.
    Tricho-hepato-enteric syndrome and syndromic diarrhea are quite rare conditions with only 15 patients described to date. Both include severe diarrhea requiring total parenteral nutrition, facial dysmorphism, immunity defect, and hair abnormalities (mostly trichorrhexis nodosa). A definite clear clinical description of the two syndromes is lacking; the outcome is also poorly known. Read More

    Trichorrhexis nodosa secondary to argininosuccinicaciduria.
    Pediatr Dermatol 2007 Jan-Feb;24(1):25-7
    Section on Dermatology, Department of Medicine, The Medical College of Georgia, 1004 Chafee Avenue, Augusta, GA 30904, USA.
    Argininosuccinicaciduria is a rare metabolic disorder of the urea cycle associated with the inability to excrete nitrogenous waste in the form of urea. Along with low serum arginine, hepatomegaly, and mental retardation, congenital trichorrhexis nodosa is a distinguishing feature of the disorder. We present a 3. Read More

    Structural and molecular hair abnormalities in trichothiodystrophy.
    J Invest Dermatol 2006 Oct 25;126(10):2210-6. Epub 2006 May 25.
    DNA Repair Section, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892-4258, USA.
    We examined hair from 15 patients with trichothiodystrophy (TTD), a rare inherited disorder with brittle, cystine-deficient hair. They had a wide variety of phenotypes, from brittle hair only to severe intellectual impairment and developmental delay. Polarizing light microscopic examination showed alternating light and dark (tiger tail) bands under polarizing microscopy. Read More

    A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis.
    Eur J Dermatol 2006 May-Jun;16(3):241-5
    Department of Dermatology, Lehigh Valley Hospital, Allentown, Pennsylvania, USA.
    Oculo-dento-digital dysplasia (ODDD) is a rare autosomal dominant congenital disorder mainly affecting the development of the face, eyes, skeletal system, heart and dentition. ODDD has been mapped to chromosome 6q22-q24 and germline mutations have been identified in the connexin 43 gene, GJA1. Abnormalities of the skin, hair, and nails have been recognized in ODDD but are often easily overlooked. Read More

    1 OF 3