Literature DB >> 26903188

Ocular manifestations of genetic skin disorders.

Melinda Jen1, Sudha Nallasamy2.   

Abstract

Genetic skin diseases, or genodermatoses, often have extracutaneous manifestations. Ocular manifestations in particular can have significant clinical implications, like blindness. Other manifestations, such as the corneal opacities that occur in X-linked ichthyosis, are asymptomatic but characteristic of a particular genodermatosis. Ophthalmologic examination can aid in diagnosis when characteristic findings are seen. The genodermatoses with ocular manifestations will be reviewed, but neurocutaneous, syndromes, genetic pigmentary disorders, and genetic metabolic diseases are not included because they are covered elsewhere in this issue.
Copyright © 2015 Elsevier Inc. All rights reserved.

Entities:  

Mesh:

Year:  2015        PMID: 26903188     DOI: 10.1016/j.clindermatol.2015.11.008

Source DB:  PubMed          Journal:  Clin Dermatol        ISSN: 0738-081X            Impact factor:   3.541


  13 in total

1.  Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Authors:  Khadim Shah; Sabba Mehmood; Abid Jan; Izoduwa Abbe; Raja Hussain Ali; Anwar Khan; Muhammad S Chishti; Kwanghyuk Lee; Farooq Ahmad; Muhammad Ansar; Shaheen Shahzad; Deborah A Nickerson; Michael J Bamshad; Paul J Coucke; Regie L P Santos-Cortez; Richard A Spritz; Suzanne M Leal; Wasim Ahmad
Journal:  Int J Dermatol       Date:  2017-12       Impact factor: 2.736

2.  Introduction to phacomatoses (neurocutaneous disorders) in childhood.

Authors:  Martino Ruggieri; Agata Polizzi; Gioacchino Paolo Marceca; Stefano Catanzaro; Andrea D Praticò; Concezio Di Rocco
Journal:  Childs Nerv Syst       Date:  2020-09-17       Impact factor: 1.475

3.  Clinical features, surgical outcomes and genetic analysis of ectodermal dysplasia with ocular diseases.

Authors:  Xi Chen; Wei-Xuan Zeng; Bao-Ying Duan; Yan-Yan Lin; Jia Liu; Zong-Duan Zhang
Journal:  Int J Ophthalmol       Date:  2022-07-18       Impact factor: 1.645

4.  Eye Involvement and Management in Inherited Epidermolysis Bullosa.

Authors:  Yasmine Bachir; Alejandra Daruich; Couanon Marie; Matthieu P Robert; Dominique Bremond-Gignac
Journal:  Drugs       Date:  2022-09-08       Impact factor: 11.431

Review 5.  Basal Cell Carcinoma and Hedgehog Pathway Inhibitors: Focus on Immune Response.

Authors:  Donatella Gambini; Emanuela Passoni; Gianluca Nazzaro; Giada Beltramini; Gianluca Tomasello; Michele Ghidini; Elisabetta Kuhn; Ornella Garrone
Journal:  Front Med (Lausanne)       Date:  2022-06-14

6.  A guideline for the clinical management of basal cell naevus syndrome (Gorlin-Goltz syndrome).

Authors:  B J A Verkouteren; B Cosgun; M G H C Reinders; P A W K Kessler; R J Vermeulen; M Klaassens; S Lambrechts; J R van Rheenen; M van Geel; M Vreeburg; K Mosterd
Journal:  Br J Dermatol       Date:  2021-11-08       Impact factor: 11.113

7.  Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.

Authors:  Rebecca Ahrens-Nicklas; Lars Schlotawa; Andrea Ballabio; Nicola Brunetti-Pierri; Mauricio De Castro; Thomas Dierks; Florian Eichler; Can Ficicioglu; Alan Finglas; Jutta Gaertner; Brian Kirmse; Joerg Klepper; Marcus Lee; Amber Olsen; Giancarlo Parenti; Arastoo Vossough; Adeline Vanderver; Laura A Adang
Journal:  Mol Genet Metab       Date:  2018-01-31       Impact factor: 4.797

Review 8.  A review of scoring systems for ocular involvement in chronic cutaneous bullous diseases.

Authors:  Brendon W H Lee; Jeremy C K Tan; Melissa Radjenovic; Minas T Coroneo; Dedee F Murrell
Journal:  Orphanet J Rare Dis       Date:  2018-05-22       Impact factor: 4.123

9.  Ocular manifestations of ectodermal dysplasia.

Authors:  Daphna Landau Prat; William R Katowitz; Alanna Strong; James A Katowitz
Journal:  Orphanet J Rare Dis       Date:  2021-05-01       Impact factor: 4.303

Review 10.  Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.

Authors:  Cortney Gensemer; Randall Burks; Steven Kautz; Daniel P Judge; Mark Lavallee; Russell A Norris
Journal:  Dev Dyn       Date:  2020-08-17       Impact factor: 3.780

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