Literature DB >> 31197391

[Hair anomalies in syndromic disorders].

J Frank1, R C Betz2.   

Abstract

Genetic diseases with hyper- and hypotrichosis are very heterogeneous, both clinically and genetically. This is especially true for ectodermal dysplasias but also for hereditary syndromes in which, beyond abnormal hair growth, other structures and organs are affected. In this review, we discuss distinct diseases with excessive and reduced hair growth, focusing on the clinical hallmarks and underlying genetic defects.

Entities:  

Keywords:  Alopecia; Congenital abnormalities; Ectodermal dysplasia; Hypertrichosis; Hypotrichosis

Mesh：

Year:  2019        PMID： 31197391     DOI： 10.1007/s00105-019-4440-6

Source DB:  PubMed          Journal:  Hautarzt        ISSN： 0017-8470            Impact factor:   0.751


  13 in total

Review 1.  [Hereditary photodermatoses].

Authors:  P Poblete-Gutiérrez; W H C Burgdorf; C Has; M Berneburg; J Frank
Journal:  Hautarzt       Date:  2006-12       Impact factor: 0.751

Review 2.  [Genetically induced hair diseases].

Authors:  T Wiederholt; P Poblete-Gutiérrez; J Frank
Journal:  Hautarzt       Date:  2003-07-04       Impact factor: 0.751

Review 3.  [Genetic hair diseases. An update].

Authors:  J Frank; P Poblete-Gutiérrez; K Giehl
Journal:  Hautarzt       Date:  2013-11       Impact factor: 0.751

Review 4.  Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.

Authors:  Jo-David Fine; Leena Bruckner-Tuderman; Robin A J Eady; Eugene A Bauer; Johann W Bauer; Cristina Has; Adrian Heagerty; Helmut Hintner; Alain Hovnanian; Marcel F Jonkman; Irene Leigh; M Peter Marinkovich; Anna E Martinez; John A McGrath; Jemima E Mellerio; Celia Moss; Dedee F Murrell; Hiroshi Shimizu; Jouni Uitto; David Woodley; Giovanna Zambruno
Journal:  J Am Acad Dermatol       Date:  2014-03-29       Impact factor: 11.527

5.  Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

Authors:  G McKoy; N Protonotarios; A Crosby; A Tsatsopoulou; A Anastasakis; A Coonar; M Norman; C Baboonian; S Jeffery; W J McKenna
Journal:  Lancet       Date:  2000-06-17       Impact factor: 79.321

6.  Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

Authors:  E E Norgett; S J Hatsell; L Carvajal-Huerta; J C Cabezas; J Common; P E Purkis; N Whittock; I M Leigh; H P Stevens; D P Kelsell
Journal:  Hum Mol Genet       Date:  2000-11-01       Impact factor: 6.150

Review 7.  Unveiling the roots of monogenic genodermatoses: genotrichoses as a paradigm.

Authors:  Regina C Betz; Rita M Cabral; Angela M Christiano; Eli Sprecher
Journal:  J Invest Dermatol       Date:  2011-12-15       Impact factor: 8.551

8.  Trichothiodystrophy: quantification of cysteine in human hair and nails by application of sodium azide-dependent oxidation to cysteic acid.

Authors:  J O Sass; D Skladal; B Zelger; N Romani; B Utermann
Journal:  Arch Dermatol Res       Date:  2004-09       Impact factor: 3.017

9.  Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.

Authors:  Samantha S Vergano; Matthew A Deardorff
Journal:  Am J Med Genet C Semin Med Genet       Date:  2014-08-28       Impact factor: 3.908

Review 10.  New clinico-genetic classification of trichothiodystrophy.

Authors:  Fanny Morice-Picard; Muriel Cario-André; Hamid Rezvani; Didier Lacombe; Alain Sarasin; Alain Taïeb
Journal:  Am J Med Genet A       Date:  2009-09       Impact factor: 2.802
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