Literature DB >> 21574026

Congenital atrichia and hypotrichosis.

Antoni Bennàssar1, Juan Ferrando, Ramon Grimalt.   

Abstract

BACKGROUND: Alopecia present from birth includes a broad differential diagnosis and often represents a diagnostic and therapeutic challenge for the involved physician. DATA SOURCES: An initial correct diagnosis and classification is essential because structural hair defects may be the expression of a genetic disorder affecting hair growth, part of a congenital syndrome with accompanying hair malformations, or a marker for an underlying metabolic disorder and may impact the mental and physical development of a child. Pathological hair loss rarely occurs in the first year of life; however, it may be a leading symptom of many congenital diseases.
RESULTS: In recent years, the clinical and microscopic features of hereditary hair shaft disorders have been characterized and classified. Furthermore, significant progress has been made in our knowledge of genes that control the normal development and differentiation of hair follicles, and thus the research is to define and classify the hair disorders within a genetic basis.
CONCLUSIONS: In this article we discuss several types of genotrichosis and provide a practical classification based on their clinical features.

Entities:  

Mesh:

Year:  2011        PMID: 21574026     DOI: 10.1007/s12519-011-0262-z

Source DB:  PubMed          Journal:  World J Pediatr            Impact factor:   2.764


  32 in total

1.  Trichorhinophalangeal syndrome.

Authors:  R Böni; R H Böni; D Tsambaos; M A Spycher; R M Trüeb
Journal:  Dermatology       Date:  1995       Impact factor: 5.366

2.  Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism.

Authors:  K Devriendt; H Van den Berghe; J P Fryns
Journal:  Clin Genet       Date:  1996-01       Impact factor: 4.438

3.  Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance.

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Journal:  Br J Dermatol       Date:  1974-12       Impact factor: 9.302

4.  Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.

Authors:  S Cichon; M Anker; I R Vogt; H Rohleder; M Pützstück; A Hillmer; S A Farooq; K S Al-Dhafri; M Ahmad; S Haque; M Rietschel; P Propping; R Kruse; M M Nöthen
Journal:  Hum Mol Genet       Date:  1998-10       Impact factor: 6.150

Review 5.  Trichorhinophalangeal syndrome type III.

Authors:  P H Itin; S Bohn; D Mathys; R Guggenheim; G Richard
Journal:  Dermatology       Date:  1996       Impact factor: 5.366

Review 6.  Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology.

Authors:  H Caceres-Rios; L Tamayo-Sanchez; C Duran-Mckinster; M de la Luz Orozco; R Ruiz-Maldonado
Journal:  Pediatr Dermatol       Date:  1996 Mar-Apr       Impact factor: 1.588

7.  Congenital alopecia areata.

Authors:  P A de Viragh; B Gianadda; M L Levy
Journal:  Dermatology       Date:  1997       Impact factor: 5.366

Review 8.  [Familial juvenile macular dystrophy with congenital hypotrichosis capitis].

Authors:  M Becker; K Rohrschneider; W Tilgen; B H Weber; H E Völcker
Journal:  Ophthalmologe       Date:  1998-04       Impact factor: 1.059

Review 9.  Congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth in four siblings: a new syndrome?

Authors:  P M Steijlen; H A Neumann; D J der Kinderen; D F Smeets; P C van der Kerkhof; R Happle
Journal:  J Am Acad Dermatol       Date:  1994-05       Impact factor: 11.527

10.  X-linked dominant chondrodysplasia punctata (Happle syndrome) with uncommon symmetrical shortening of the tubular bones.

Authors:  T Gobello; C Mazzanti; P Fileccia; B Didona; M Papi; F Atzori; R Cavalieri
Journal:  Dermatology       Date:  1995       Impact factor: 5.366

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  5 in total

1.  Atrichia with Papular Lesions: Importance of Histology at an Early Disease Stage.

Authors:  Vanessa B Rocha; Nilceo Michalany; Neusa Y S Valente; Luciana B Pereira; Aline Donati
Journal:  Skin Appendage Disord       Date:  2017-09-28

2.  Photoletter to the editor: Congenital atrichia associated with an uncommon mutation of HR gene.

Authors:  Ana Pedrosa; Ana Nogueira; Paulo Morais; Ana Filipa Duarte; Joana Pardal; Alberto Mota; Filomena Azevedo
Journal:  J Dermatol Case Rep       Date:  2013-03-30

3.  Hirschsprung's disease associated with alopecia universalis congenita: a case report.

Authors:  Sushma Malik; Mani Singhal; Shruti Sudhir Jadhav; Charusheela Sujit Korday; Chitra Shivanand Nayak
Journal:  J Med Case Rep       Date:  2016-09-15

4.  Rare Presentation of Alopecia Universalis Congenita and Twenty-nail Dystrophy in Siblings.

Authors:  Debdeep Mitra; Reetu Agarwal; Ajay Chopra; Renu Kandpal
Journal:  Int J Trichology       Date:  2017 Apr-Jun

5.  Hair shaft structures in EDAR induced ectodermal dysplasia.

Authors:  C Stecksén-Blicks; C Falk Kieri; D Hägg; M Schmitt-Egenolf
Journal:  BMC Med Genet       Date:  2015-09-04       Impact factor: 2.103

  5 in total

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