Literature DB >> 1158014

[Focal dermal hypoplasia with keratoconus, papillomatosis of esophagus and hidrocystomas (author's transl)].

L Zala, C Ettlin, A Krebs.   

Abstract

Focal dermal hypoplasia (Goltz's syndrome, Goltz-Gorlin syndrome), an uncommon malady belonging to the group of congenital poikloderma, is characterized by its broad spectrum of meso-ectodermal defects involving the skin as well as the eyes, skeletal system and teeth. The case represented her is identical with the one published by Naegeli 1926, and contains some additional findings that have not yet been reported, namely: multiple hidrocystomas, bilateral keratoconus, papillomatosis of esophagus, hiatus hernia.

Entities:  

Mesh:

Year:  1975        PMID: 1158014

Source DB:  PubMed          Journal:  Dermatologica        ISSN: 0011-9075


  7 in total

1.  [Multiple tumors of the eyelid].

Authors:  D Süsskind; S Aisenbrey; J M Rohrbach
Journal:  Ophthalmologe       Date:  2006-05       Impact factor: 1.059

2.  Angioma serpiginosum is not caused by PORCN mutations.

Authors:  Rudolf Happle
Journal:  Eur J Hum Genet       Date:  2009-04-01       Impact factor: 4.246

3.  [Focal dermal hypoplasia with apocrine nevi and striation of bones (author's transl)].

Authors:  F Vakilzadeh; R Happle; P Peters; E Macher
Journal:  Arch Dermatol Res       Date:  1976-08-27       Impact factor: 3.017

4.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

5.  VSX1 and SOD1 Mutation Screening in Patients with Keratoconus in the South of Iran.

Authors:  Mahmood Nejabat; Payam Naghash; Hassan Dastsooz; Sanaz Mohammadi; Mohsen Alipour; Majid Fardaei
Journal:  J Ophthalmic Vis Res       Date:  2017 Apr-Jun

Review 6.  Genetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with Comorbidities.

Authors:  Eleftherios Loukovitis; Konstantinos Sfakianakis; Panagiota Syrmakesi; Eleni Tsotridou; Myrsini Orfanidou; Dimitra Rafailia Bakaloudi; Maria Stoila; Athina Kozei; Spyridon Koronis; Zachos Zachariadis; Paris Tranos; Nikos Kozeis; Miltos Balidis; Zisis Gatzioufas; Aliki Fiska; George Anogeianakis
Journal:  Ophthalmol Ther       Date:  2018-09-06

7.  A Rare Case of Squamous Cell Carcinoma of the Esophagus in a Patient With Goltz Syndrome.

Authors:  Maida Hafiz; Suneha Sundaram; Abdul Rafeh Naqash; James Speicher; Ann Sutton; Paul Walker; Nizar Talaat
Journal:  ACG Case Rep J       Date:  2019-03-08
  7 in total

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