Literature DB >> 4281327

Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait.

E Schöpf, H J Schulz, E Passarge.   

Abstract

Description is given of two sisters, offspring of a first cousin marriage, who exhibited the following identical lesions: 1) cysts of the borders of upper and lower lids; 2) hypodontia; 3) hypotrichosis; 4) palmo-plantar keratosis and 5) onychodystrophy. It is suggested that this combination represents a previously unrecognized autosomal recessive trait in man.

Entities:  

Mesh：

Year:  1971        PMID： 4281327

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


  9 in total

Review 1.  Cutaneous lesions of the nose.

Authors:  Michael Sand; Daniel Sand; Christina Thrandorf; Volker Paech; Peter Altmeyer; Falk G Bechara
Journal:  Head Face Med       Date:  2010-06-04       Impact factor: 2.151

Review 2.  Concepts for the treatment of adolescent patients with missing permanent teeth.

Authors:  M Behr; O Driemel; V Mertins; T Gerlach; C Kolbeck; N Rohr; T E Reichert; G Handel
Journal:  Oral Maxillofac Surg       Date:  2008-07

3.  WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.

Authors:  Axel Bohring; Thomas Stamm; Christiane Spaich; Claudia Haase; Kerstin Spree; Ute Hehr; Mandy Hoffmann; Susanne Ledig; Saadettin Sel; Peter Wieacker; Albrecht Röpke
Journal:  Am J Hum Genet       Date:  2009-06-25       Impact factor: 11.025

4.  Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.

Authors:  Lynn Adaimy; Eliane Chouery; Hala Megarbane; Salman Mroueh; Valerie Delague; Elsa Nicolas; Hanen Belguith; Philippe de Mazancourt; Andre Megarbane
Journal:  Am J Hum Genet       Date:  2007-08-09       Impact factor: 11.025

5.  [Periocular poroma-a rare differential diagnosis to basal cell carcinoma].

Authors:  C Kesper; C Busse; C Wickenhauser; D Bethmann; A Viestenz; J Heichel
Journal:  Ophthalmologe       Date:  2021-02-26       Impact factor: 1.059

6.  Schopf-Schulz-Passarge Syndrome.

Authors:  Kinjal D Rambhia; Vidya Kharkar; Sunanda Mahajan; Uday S Khopkar
Journal:  Indian Dermatol Online J       Date:  2018 Nov-Dec

Review 7.  Diagnosis and Management of Inherited Palmoplantar Keratodermas.

Authors:  Bjorn R Thomas; Edel A O'Toole
Journal:  Acta Derm Venereol       Date:  2020-03-25       Impact factor: 3.875

8.  Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.

Authors:  Binghui Zeng; Xue Xiao; Sijie Li; Hui Lu; Jiaxuan Lu; Ling Zhu; Dongsheng Yu; Wei Zhao
Journal:  Genes (Basel)       Date:  2016-09-19       Impact factor: 4.096

Review 9.  The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.

Authors:  Meredith A Williams; Ariadne Letra
Journal:  Genes (Basel)       Date:  2018-05-16       Impact factor: 4.096
  9 in total

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