Hair Loss in Children
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Clinical Presentation of Pili Torti - Case Report*
CASE REPORT 29 ▲ Clinical presentation of pili torti - Case report* Jeane Jeong Hoon Yang1 Karine Valentim Cade1 Flavia Cury Rezende1 José Marcos Pereira (In memoriam)1 José Roberto Pereira Pegas1 DOI: http://dx.doi.org/10.1590/abd1806-4841.20153540 Abstract: Pili torti also known as ‘twisted hairs’ (Latin: pili=hair; torti=twisted) is a rare, congenital or acquired clinical presentation, in which the hair shaft is fl attened at irregular intervals and twisted 180º along its axis. It is clinically characterized by fragile, brittle, coarse and lusterless hairs, due to uneven light refl ection on the twisted hair surface. Pili torti may be associated with neurological abnormalities and ectodermal dysplasias. There is no specifi c treatment for this condition, but it may improve spontaneously after puberty. We report a case of pili torti in a child who presented fragile, brittle, diffi cult to comb hair. The patient had no comorbidities. Keywords: Capillary fragility; Hair diseases; Rotation INTRODUCTION Pili torti is a congenital or acquired, dominant tion, audiometry and measurement of serum zinc were autosomal disease in which the hair shaft is fl attened performed. All results were within the normal range. at irregular intervals and twisted along its axis. It most The diagnostic hypothesis of pili torti was made. The commonly occurs in fair-haired girls, beginning in the patient remains in outpatient follow-up and shows second or third year of life. The hairs become dry, lus- age-appropriate neuropsychomotor development. terless, fragile and brittle. The condition may be asso- ciated with neurosensorial deafness1 and is probably caused by changes in the internal hair sheath. -
Short Anagen Syndrome: a Case Study
Journal of Cosmetics, Dermatological Sciences and Applications, 2012, 2, 14-15 http://dx.doi.org/10.4236/jcdsa.2012.21004 Published Online March 2012 (http://www.SciRP.org/journal/jcdsa) Short Anagen Syndrome: A Case Study Martina Alés Fernández, Francisco M. Camacho Martínez Department of Dermatology, Virgen Macarena University Hospital, Seville, Spain. Email: [email protected], [email protected] Received October 31st, 2011; revised November 18th, 2011; revised November 29th, 2011 ABSTRACT Short anagen syndrome is a relatively recently described entity. This syndrome is an unusual condition where the ana- gen growth phase of hair follicles is shorter than normal. Its clinical characteristics and trichogram findings contribute to the diagnosis of this trichosis. Keywords: Anagen Syndrome 1. Case Report Three-years-old girl with low density and slow growth scalp hair that had not been cut since birth. Her birth and medical history were unremarkable. The physical ex- amination revealed short and fine brown scalp hair with decreased density in frontoparietal areas (Figure 1). The rest of the physical examination was normal, without any abnormalities in eyelashes, eyebrows, teeth, nails or skin. The hair pull test was negative. The trichogram demon- strated some dystrophic hairs, but the most important data was an increased number of telogen hairs with a consistent decreased number of anagen hairs (Figure 2). The anagen to telogen ratio (7:28) was significantly re- duced with only 25% of hairs in anagen. 2. Discussion Short anagen syndrome is a relatively recently recog- nized entity poorly documented. Short hair due to a short anagen phase was described in 1987 by Kersey as part of tricho-dental syndrome [1]. -
MECHANISMS in ENDOCRINOLOGY: Novel Genetic Causes of Short Stature
J M Wit and others Genetics of short stature 174:4 R145–R173 Review MECHANISMS IN ENDOCRINOLOGY Novel genetic causes of short stature 1 1 2 2 Jan M Wit , Wilma Oostdijk , Monique Losekoot , Hermine A van Duyvenvoorde , Correspondence Claudia A L Ruivenkamp2 and Sarina G Kant2 should be addressed to J M Wit Departments of 1Paediatrics and 2Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, Email The Netherlands [email protected] Abstract The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are GH1 and GHRHR defects, but several novel causes have recently been found, such as GHSR, RNPC3, and IFT172 mutations. Besides well-defined causes of GH insensitivity (GHR, STAT5B, IGFALS, IGF1 defects), disorders of NFkB signalling, STAT3 and IGF2 have recently been discovered. Heterozygous IGF1R defects are a relatively frequent cause of prenatal and postnatal growth retardation. TRHA mutations cause a syndromic form of short stature with elevated T3/T4 ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP/IHH, and CNP/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature. -
Significant Absorption of Topical Tacrolimus in 3 Patients with Netherton Syndrome
OBSERVATION Significant Absorption of Topical Tacrolimus in 3 Patients With Netherton Syndrome Angel Allen, MD; Elaine Siegfried, MD; Robert Silverman, MD; Mary L. Williams, MD; Peter M. Elias, MD; Sarolta K. Szabo, MD; Neil J. Korman, MD, PhD Background: Tacrolimus is a macrolide immunosup- limus in organ transplant recipients. None of these pressant approved in oral and intravenous formulations patients developed signs or symptoms of toxic effects of for primary immunosuppression in liver and kidney trans- tacrolimus. plantation. Topical 0.1% tacrolimus ointment has re- cently been shown to be effective in atopic dermatitis for Conclusions: Patients with Netherton syndrome have children as young as 2 years of age, with minimal sys- a skin barrier dysfunction that puts them at risk for in- temic absorption. We describe 3 patients treated with topi- creased percutaneous absorption. The Food and Drug Ad- cal 0.1% tacrolimus who developed significant systemic ministration recently approved 0.1% tacrolimus oint- absorption. ment for the treatment of atopic dermatitis. Children with Netherton syndrome may be misdiagnosed as having Observation: Three patients previously diagnosed as atopic dermatitis. These children are at risk for marked having Netherton syndrome were treated at different cen- systemic absorption and associated toxic effects. If topi- ters with 0.1% tacrolimus ointment twice daily. Two pa- cal tacrolimus is used in this setting, monitoring of se- tients showed dramatic improvement. All patients were rum tacrolimus levels is essential. found to have tacrolimus blood levels within or above the established therapeutic trough range for oral tacro- Arch Dermatol. 2001;137:747-750 ETHERTON syndrome is taneous absorption of the drug, with serum an autosomal recessive levels well above the therapeutic range. -
Chronic Diarrhea in an Adolescent Girl with a Genetic Skin Condition
PHOTO CHALLENGE Chronic Diarrhea in an Adolescent Girl With a Genetic Skin Condition Lucia Liao, BS; Andrea Zaenglein, MD; Galen T. Foulke, MD A 17-year-old adolescent girl visited our clinic to establish care for her genetic skin condition. She exhibited red scaly plaques and patches over much of the body surface area consistent with atopic dermatitis but also had areas on the trunk with serpiginous red plaques with scale on the leading and trailingcopy edges. She also noted fragile hair with sparse eyebrows. The patient reported that she had experienced chronic diarrhea and abdominal pain since childhood. She asked if it couldnot be related to her genetic condition. WHAT’S THE DIAGNOSIS? a. dyskeratosis follicularis (Darier disease) b. elastosis perforans serpiginosa Doc. erythema marginatum d. Netherton syndrome e. subacute cutaneous lupus erythematosus PLEASE TURN TO PAGE E19 FOR THE DIAGNOSIS CUTIS Ms. Liao is from Pennsylvania State University College of Medicine, Hershey. Drs. Zaenglein and Foulke are from the Department of Dermatology, Pennsylvania State Medical Center, Hershey. Dr. Zaengelin also is from the Department of Pediatrics. The authors report no conflict of interest. Correspondence: Galen T. Foulke, MD, 500 University Dr HU14, Hershey, PA 17033 ([email protected]). E18 I CUTIS® WWW.MDEDGE.COM/DERMATOLOGY Copyright Cutis 2020. No part of this publication may be reproduced, stored, or transmitted without the prior written permission of the Publisher. PHOTO CHALLENGE DISCUSSION THE DIAGNOSIS: Netherton Syndrome -
Hair Loss in Infancy
SCIENCE CITATIONINDEXINDEXED MEDICUS INDEX BY (MEDLINE) EXPANDED (ISI) OFFICIAL JOURNAL OF THE SOCIETÀ ITALIANA DI DERMATOLOGIA MEDICA, CHIRURGICA, ESTETICA E DELLE MALATTIE SESSUALMENTE TRASMESSE (SIDeMaST) VOLUME 149 - No. 1 - FEBRUARY 2014 Anno: 2014 Lavoro: 4731-MD Mese: Febraury titolo breve: Hair loss in infancy Volume: 149 primo autore: MORENO-ROMERO No: 1 pagine: 55-78 Rivista: GIORNALE ITALIANO DI DERMATOLOGIA E VENEREOLOGIA Cod Rivista: G ITAL DERMATOL VENEREOL G ITAL DERMATOL VENEREOL 2014;149:55-78 Hair loss in infancy J. A. MORENO-ROMERO 1, R. GRIMALT 2 Hair diseases represent a signifcant portion of cases seen 1Department of Dermatology by pediatric dermatologists although hair has always been Hospital General de Catalunya, Barcelona, Spain a secondary aspect in pediatricians and dermatologists 2Universitat de Barcelona training, on the erroneous basis that there is not much in- Universitat Internacional de Catalunya, Barcelona, Spain formation extractable from it. Dermatologists are in the enviable situation of being able to study many disorders with simple diagnostic techniques. The hair is easily ac- cessible to examination but, paradoxically, this approach is often disregarded by non-dermatologist. This paper has Embryology and normal hair development been written on the purpose of trying to serve in the diag- nostic process of daily practice, and trying to help, for ex- ample, to distinguish between certain acquired and some The full complement of hair follicles is present genetically determined hair diseases. We will focus on all at birth and no new hair follicles develop thereafter. the data that can be obtained from our patients’ hair and Each follicle is capable of producing three different try to help on using the messages given by hair for each types of hair: lanugo, vellus and terminal. -
Dermatologic Nuances in Children with Skin of Color
5/21/2019 Dermatologic Nuances in Children with Skin of Color Candrice R. Heath, MD, FAAP, FAAD Director, Pediatric Dermatology LKSOM Temple University @DrCandriceHeath Advisory Board – Pfizer, Regeneron-Sanofi Consultant –Marketing – Unilever, Proctor & Gamble Speaker’s Bureau - Pfizer I do not intend to discuss on-FDA approved or investigational use of products in my presentation. • Recognize common hair, scalp and skin disorders that may present differently in children with skin of color • Select appropriate treatment options based upon common cultural preferences to increase adherence • Establish treatment algorithm for challenging cases 1 5/21/2019 • 2050 : Over half of the United States population will be people of color • 2050 : 1 in 3 US residents will be Hispanic • 2023 : Over half of the children in the US will be people of color • Focuses on ethnic and racial groups who have – similar skin characteristics – similar skin diseases – similar reaction patterns to those skin diseases Taylor SC et al. (2016) Defining Skin of Color. In Taylor & Kelly’s Dermatology for Skin of Color. 2016 Type I always burns, never tans (palest) Type II usually burns, tans minimally Type III sometimes mild burn, tans uniformly Type IV burns minimally, always tans well (moderate brown) Type V very rarely burns, tans very easily (dark brown) Type VI Never burns (deeply pigmented dark brown to darkest brown) 2 5/21/2019 • Black • Asian • Hispanic • Other Not so fast… • Darker skin hues • The term “race” is faulty – Race may not equal biological or genetic inheritance – There is not one gene or characteristic that separates every person of one race from another Taylor SC et al. -
CORPORATE PRESENTATION Q3 2020 Forward-Looking Statements
Medicines for Rare Diseases – A Gene Therapy Company CORPORATE PRESENTATION Q3 2020 Forward-Looking Statements This presentation contains forward-looking statements that involve substantial risks and uncertainties. Any statements in this presentation about future expectations, plans and prospects for Krystal Biotech, Inc. (the “Company”), including but not limited to statements about the development of the Company’s product candidates, such as the future development or commercialization of B-VEC, KB105 and the Company’s other product candidates; conduct and timelines of clinical trials, the clinical utility of B-VEC, KB105 and the Company’s other product candidates; plans for and timing of the review of regulatory filings, efforts to bring B-VEC, KB105 and the Company’s other product candidates to market; the market opportunity for and the potential market acceptance of B-VEC, KB105 and the Company’s other product candidates, the development of B-VEC, KB105 and the Company’s other product candidates for additional indications; the development of additional formulations of B-VEC, KB105 and the Company’s other product candidates; plans to pursue research and development of other product candidates, the sufficiency of the Company’s existing cash resources; and other statements containing the words “anticipate,” “believe,” “estimate,” “expect,” “intend,” “may,” “plan,” “predict,” “project,” “target,” “potential,” “likely,” “will,” “would,” “could,” “should,” “continue,” and similar expressions, constitute forward-looking statements within the meaning of The Private Securities Litigation Reform Act of 1995. Actual results may differ materially from those indicated by such forward-looking statements as a result of various important factors, including: the content and timing of decisions made by the U.S. -
A ABCD, 19, 142, 152 ABCDE, 19, 142 Abramowitz Sign, 3, 5
Index A Atopic dermatitis, 2, 18, 19, 20, 30, ABCD, 19, 142, 152 61, 81, 82, 84, 86, 99 ABCDE, 19, 142 Atrophie blanche, 173, 177 Abramowitz sign, 3, 5 Atrophy, crinkling, 143, 160 Acanthosis nigricans, 105, 106, 132 Atypical nevus, 144, 145, 163, 164 Addison disease (primary adrenal eclipse, 144, 164 insufficiency), 137 ugly duckling, 144, 163 Albright (McCune–Albright Auspitz sign, 3, 5, 6, 18, 104 syndrome), 83, 93 All in different stages, 33, 34, 40 All in same stage, 33, 34, 38 B Alopecia, 57, 77, 94, 105, 106, 111, Bamboo hair, 84, 99, 171, 172 117, 119, 127, 133, 171, 172, Basal cell carcinoma, 17, 104, 140, 182, 184 151, 162, 170 Alopecia areata, 105, 106, 127, 171 Bioterrorism, 33, 38 Amyloid, 107, 119 Black dot (tinea capitis), 37, 57 Angiofibroma, 89 Blue angel (see Tumors, painful) Angiokeratoma, 3, 79, 81, 85 Blue rubber bleb nevus, 144, Angiolipoma, 142, 155 154, 168 Angioma, spider, 107, 109, 134 angiolipioma, 142, 155 Angiomatosis, leptomeningeal, 90 neurilemmoma, 142, 156 Anticoagulant, lupus, 108, 121 glomus tumor, 142, 157 Antiphospholipid syndrome eccrine spiradenoma, 142, 158 (APLS), 19, 107, 108, 121 leiomyoma, 142, 159 Apocrine hidrocystoma, 144, Blue cyst (apocrine hidrocystoma), 166, 168 144, 166, 168 Apple jelly, 36, 37, 47 Blue nose (purpura fulminans), 19, Ash leaf macule (confetti macule), 108, 122 82, 89 Blue papule (blue nevus), 1, 144, Asymmetry, 19, 118, 136, 152 166, 167, 168 187 188 Index Blue rubber bleb nevus, 144, 154, 168 Coast of California, 82, 83, 91 Border Coast of Maine, 83, 93 irregular, 83, -
Keratolysis Exfoliativa
University of Groningen Keratolysis exfoliativa (dyshidrosis lamellosa sicca) van der Velden, J.; van der Wier, G.; Kramer, D.; Diercks, G.F.; van Geel, M.; Coenraads, P.J.; Zeeuwen, P.L.; Jonkman, M.F.; Chang, Y.Y. Published in: BRITISH JOURNAL OF DERMATOLOGY DOI: 10.1111/j.1365-2133.2012.11175.x IMPORTANT NOTE: You are advised to consult the publisher's version (publisher's PDF) if you wish to cite from it. Please check the document version below. Document Version Publisher's PDF, also known as Version of record Publication date: 2012 Link to publication in University of Groningen/UMCG research database Citation for published version (APA): van der Velden, J., van der Wier, G., Kramer, D., Diercks, G. F., van Geel, M., Coenraads, P. J., ... Chang, Y. Y. (2012). Keratolysis exfoliativa (dyshidrosis lamellosa sicca): a distinct peeling entity. BRITISH JOURNAL OF DERMATOLOGY, 167(5), 1076-1084. https://doi.org/10.1111/j.1365-2133.2012.11175.x Copyright Other than for strictly personal use, it is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), unless the work is under an open content license (like Creative Commons). Take-down policy If you believe that this document breaches copyright please contact us providing details, and we will remove access to the work immediately and investigate your claim. Downloaded from the University of Groningen/UMCG research database (Pure): http://www.rug.nl/research/portal. For technical reasons the number of authors shown on this cover page is limited to 10 maximum. -
371 a Acne Excoriee , 21, 22 Acneiform Disorders , 340 Acne
Index A African American community Acne excoriee , 21, 22 cocoa butter , 302 Acneiform disorders , 340 diagnosis codes, dermatologist Acne keloidalis nuchae (AKN) , 340 visit , 301 description , 130 hair myths , 303 diagnosis , 131, 132 patient care , 304 differential diagnosis , 133 skin myths , 301–303 epidemiology , 130–131 African descent, cultural considerations histopathology , 133 description , 300 laser hair removal , 244 health services utilization , 300–301 pathogenesis , 131 misconceptions , 301 prevalence , 130–131 AGA. See Androgenetic alopecia (AGA) treatment Aging effects, ethnic skin , 248–249 fi rst line therapy , 134–135 AKN. See Acne keloidalis nuchae (AKN) minimally invasive therapy , 135 Alaluf, S. , 6 surgical , 135 Alexis, A.F. , 23 Acne vulgaris (AV) Alopecia areata , 99–100 aggravating factors , 23 Alopecia syphilitica , 101–102 clinical features , 21–23 Alpha hydroxy acids , 286–288 epidemiology , 23–24 Alster, T. , 197 management Anagen ef fl uvium (AE) , 99 oral therapy , 27 Androgenetic alopecia (AGA) , 97–98, procedural therapy , 27–28 355–356 topical therapy , 24–26 Antimalarials pathogenic factors , 23 lupus erythematosus , 55 PIH , 22 sarcoidosis , 71 vs. rosacea , 29 Aramaki, J. , 10 sequelae , 28 Aromatherapy, traditional Asian practice Acupuncture alopecia areata , 309 traditional Asian practice, cutaneous contact dermatitis , 309, 310 conditions description , 307 adverse effects , 311 phototoxic reaction , 309 description , 309 Ashy dermatosis. See Erythema evaluation process , 310 dyschromicum perstans -
Pili Torti: a Feature of Numerous Congenital and Acquired Conditions
Journal of Clinical Medicine Review Pili Torti: A Feature of Numerous Congenital and Acquired Conditions Aleksandra Hoffmann 1 , Anna Wa´skiel-Burnat 1,*, Jakub Z˙ ółkiewicz 1 , Leszek Blicharz 1, Adriana Rakowska 1, Mohamad Goldust 2 , Małgorzata Olszewska 1 and Lidia Rudnicka 1 1 Department of Dermatology, Medical University of Warsaw, Koszykowa 82A, 02-008 Warsaw, Poland; [email protected] (A.H.); [email protected] (J.Z.);˙ [email protected] (L.B.); [email protected] (A.R.); [email protected] (M.O.); [email protected] (L.R.) 2 Department of Dermatology, University Medical Center of the Johannes Gutenberg University, 55122 Mainz, Germany; [email protected] * Correspondence: [email protected]; Tel.: +48-22-5021-324; Fax: +48-22-824-2200 Abstract: Pili torti is a rare condition characterized by the presence of the hair shaft, which is flattened at irregular intervals and twisted 180◦ along its long axis. It is a form of hair shaft disorder with increased fragility. The condition is classified into inherited and acquired. Inherited forms may be either isolated or associated with numerous genetic diseases or syndromes (e.g., Menkes disease, Björnstad syndrome, Netherton syndrome, and Bazex-Dupré-Christol syndrome). Moreover, pili torti may be a feature of various ectodermal dysplasias (such as Rapp-Hodgkin syndrome and Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome). Acquired pili torti was described in numerous forms of alopecia (e.g., lichen planopilaris, discoid lupus erythematosus, dissecting Citation: Hoffmann, A.; cellulitis, folliculitis decalvans, alopecia areata) as well as neoplastic and systemic diseases (such Wa´skiel-Burnat,A.; Zółkiewicz,˙ J.; as cutaneous T-cell lymphoma, scalp metastasis of breast cancer, anorexia nervosa, malnutrition, Blicharz, L.; Rakowska, A.; Goldust, M.; Olszewska, M.; Rudnicka, L.