Literature DB >> 15068456

Hypotrichosis and nail dysplasia: a novel hidrotic ectodermal dysplasia.

Shannon Harrison1, Rodney Sinclair.   

Abstract

We report a unique isolated hair and nail ectodermal dysplasia in a 3-year-old girl. Clinical examination revealed short, sparse scalp hair, absent eyebrows, short eyelashes and nail dystrophy in all digits. Nail changes included shortened nail plate with distal onycholysis and loss of the cuticle. Sweating and teeth were normal. Development was normal. Scanning electron microscopy of the hair only demonstrated trichorrhexis nodosa. There was no pili torti. Vertically sectioned scalp biopsy revealed hypoplastic hair follicles and a horizontally sectioned biopsy showed a decrease in the overall number of hair follicles present. Treatment with topical minoxidil 5% 1 mL twice each day massaged into the scalp led to only minimal improvement and was discontinued after 12 months.

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Year:  2004        PMID: 15068456     DOI: 10.1111/j.1440-0960.2004.00055.x

Source DB:  PubMed          Journal:  Australas J Dermatol        ISSN: 0004-8380            Impact factor:   2.875


  6 in total

1.  Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.

Authors:  M Naeem; M Jelani; K Lee; G Ali; M S Chishti; A Wali; A Gul; P John; M J Hassan; S M Leal; W Ahmad
Journal:  Br J Dermatol       Date:  2006-12       Impact factor: 9.302

2.  Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.

Authors:  Zhimiao Lin; Quan Chen; Lei Shi; Mingyang Lee; Kathrin A Giehl; Zhanli Tang; Huijun Wang; Jie Zhang; Jinghua Yin; Lingshen Wu; Ruo Xiao; Xuanzhu Liu; Lanlan Dai; Xuejun Zhu; Ruoyu Li; Regina C Betz; Xue Zhang; Yong Yang
Journal:  Am J Hum Genet       Date:  2012-10-11       Impact factor: 11.025

3.  A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.

Authors:  M Naeem; M Wajid; K Lee; S M Leal; W Ahmad
Journal:  J Med Genet       Date:  2006-03       Impact factor: 6.318

4.  Trichorrhexis nodosa with nail dystrophy: diagnosis by dermoscopy.

Authors:  Vidya Kharkar; Rameshwar Gutte; Viral Thakkar; Uday Khopkar
Journal:  Int J Trichology       Date:  2011-07

5.  Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.

Authors:  Doroteya Raykova; Joakim Klar; Aysha Azhar; Tahir Naeem Khan; Naveed Altaf Malik; Muhammad Iqbal; Muhammad Tariq; Shahid Mahmood Baig; Niklas Dahl
Journal:  PLoS One       Date:  2014-04-08       Impact factor: 3.240

6.  Hereditary hypotrichosis simplex of the scalp.

Authors:  Hamideh Moravvej-Farshi; Azin Ayatollahi; Somayeh Hejazi
Journal:  Indian J Dermatol       Date:  2014-11       Impact factor: 1.494

  6 in total

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