Literature DB >> 1761764

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

A Mahé1, J Couturier, C Mathé, F Lebras, A Bruet, J P Fendler.   

Abstract

Focal dermal hypoplasia is a rare genetic disorder characterized by diffuse and specific cutaneous lesions. Multiple visceral abnormalities are frequently associated. A minimal form of the disease (only cutaneous and localized to one thigh) is reported in the father of a woman who had typical focal dermal hypoplasia.

Entities:  

Mesh：

Year:  1991        PMID： 1761764     DOI： 10.1016/0190-9622(91)70274-6

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN： 0190-9622            Impact factor:   11.527


  7 in total

1.  Goltz syndrome and PORCN mosaicism.

Authors:  David A Stevenson; Meghan Chirpich; Yvonne Contreras; Heather Hanson; Karin Dent
Journal:  Int J Dermatol       Date:  2014-07-11       Impact factor: 2.736

2.  Goltz syndrome: a rare case of father-to-daughter transmission.

Authors:  Vishal Gupta; Himabindu Saginatham; Sudheer Arava; Gomathy Sethuraman
Journal:  BMJ Case Rep       Date:  2016-08-16

3.  Focal dermal hypoplasia: a rare case report.

Authors:  Sahana M Srinivas; Ravi Hiremagalore
Journal:  Indian J Dermatol       Date:  2015 Jan-Feb       Impact factor: 1.494

Review 4.  Pharyngeal Presentation of Goltz Syndrome: A Case Report with Review of the Literature.

Authors:  Dale S DiSalvo; Benjamin S Oberman; Joshua I Warrick; David Goldenberg
Journal:  Head Neck Pathol       Date:  2015-11-17

5.  Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum.

Authors:  Dhanya Yesodharan; Uta Meyer Zum Büschenfelde; Kerstin Kutsche; K Mohandas Nair; Sheela Nampoothiri
Journal:  Indian J Pediatr       Date:  2018-01-31       Impact factor: 1.967

6.  A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.

Authors:  Simran Madan; Wei Liu; James T Lu; V Reid Sutton; Bryant Toth; Priscilla Joe; John R Waterson; Richard A Gibbs; Ignatia B Van den Veyver; Edward J Lammer; Philippe M Campeau; Brendan H Lee
Journal:  Mol Genet Metab Rep       Date:  2017-06-07

7.  Unilateral Focal Dermal Hypoplasia (Goltz Syndrome): Case Report and Literature Review.

Authors:  Sahar Alsharif; Sohad Hindi; Fay Khoja
Journal:  Case Rep Dermatol       Date:  2018-05-03
  7 in total

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