Literature DB >> 25657436

Focal dermal hypoplasia: a rare case report.

Sahana M Srinivas1, Ravi Hiremagalore1.   

Abstract

Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome.

Entities:  

Keywords:  Focal dermal hypoplasia; Goltz syndrome; lobster-claw hand

Year:  2015        PMID: 25657436      PMCID: PMC4318042          DOI: 10.4103/0019-5154.147876

Source DB:  PubMed          Journal:  Indian J Dermatol        ISSN: 0019-5154            Impact factor:   1.494


  9 in total

1.  Focal dermal hypoplasia.

Authors:  R W GOLTZ; W C PETERSON; R J GORLIN; H G RAVITS
Journal:  Arch Dermatol       Date:  1962-12

2.  Focal dermal hypoplasia syndrome. An update.

Authors:  R W Goltz
Journal:  Arch Dermatol       Date:  1992-08

3.  Focal dermal hypoplasia (Goltz syndrome).

Authors:  Najeeba Riyaz; A Riyaz; Rajesh Chandran; S V Rakesh
Journal:  Indian J Dermatol Venereol Leprol       Date:  2005 Jul-Aug       Impact factor: 2.545

4.  Wnt signaling in focal dermal hypoplasia.

Authors:  Amy S Paller
Journal:  Nat Genet       Date:  2007-07       Impact factor: 38.330

Review 5.  A rare multisystem disorder: Goltz syndrome - case report and brief overview.

Authors:  Arpita Jain; Ram Chander; Taru Garg; Gurucharan S Shetty
Journal:  Dermatol Online J       Date:  2010-06-15

6.  Focal dermal hypoplasia: ultrastructural abnormalities of the connective tissue.

Authors:  María del Carmen Boente; Raúl A Asial; Beatriz C Winik
Journal:  J Cutan Pathol       Date:  2007-02       Impact factor: 1.587

7.  What syndrome is this? Focal dermal hypoplasia (Goltz syndrome).

Authors:  Y C Giam; B P Khoo
Journal:  Pediatr Dermatol       Date:  1998 Sep-Oct       Impact factor: 1.588

8.  Minimal focal dermal hypoplasia in a man: a case of father-to-daughter transmission.

Authors:  A Mahé; J Couturier; C Mathé; F Lebras; A Bruet; J P Fendler
Journal:  J Am Acad Dermatol       Date:  1991-11       Impact factor: 11.527

9.  Focal dermal hypoplasia (Goltz syndrome).

Authors:  I K Temple; P MacDowall; M Baraitser; D J Atherton
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

  9 in total
  2 in total

1.  Extensive Mucocutaneous Papillomas in a Case of Focal Dermal Hypoplasia.

Authors:  Melna Jose; Shyam Sundar Chaudhary; Shiwesh Anand; Anu Garg
Journal:  Indian Dermatol Online J       Date:  2018 May-Jun

2.  Focal Dermal Hypoplasia (Goltz Syndrome): A Cross-sectional Study from Eastern India.

Authors:  Sudip Kumar Ghosh; Abhijit Dutta; Sharmila Sarkar; Shanka Subhra Nag; Surajit Kumar Biswas; Prabhakar Mandal
Journal:  Indian J Dermatol       Date:  2017 Sep-Oct       Impact factor: 1.494

  2 in total

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