Literature DB >> 34304991

Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses.

Carlos R Ferreira1, Diego Martinelli2, Nenad Blau3.   

Abstract

Cutaneous signs and symptoms may facilitate the diagnosis or can help in identifying complications or side effects of overtreatment of inherited metabolic diseases. The principal manifestations can be grouped into vascular lesions, ichthyosis, papular and nodular skin lesions, abnormal pigmentation, photosensitivity, skin laxity, hair shaft involvement, and nail abnormalities. We have summarized associations of these cutaneous signs and symptoms in 252 inherited metabolic diseases. This represents the sixth of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement. Published by Elsevier Inc.

Entities:  

Keywords:  Abnormal pigmentation; Cutis laxa; Hair shaft involvement; Ichthyosis; Photosensitivity; Skin disorders; Skin eruptions; Vascular lesions

Mesh：

Year:  2021        PMID： 34304991      PMCID： PMC8578301          DOI： 10.1016/j.ymgme.2021.07.005

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.204


  54 in total

1.  Rapid Clearance of Necrolytic Migratory Erythema Following Intravenous Administration of Amino Acids.

Authors:  Elena Thomaidou; Avital Nahmias; Leon Gilead; Abraham Zlotogorski; Yuval Ramot
Journal:  JAMA Dermatol       Date:  2016-03       Impact factor: 10.282

Review 2.  Mitochondrial dysfunction: a neglected component of skin diseases.

Authors:  René G Feichtinger; Wolfgang Sperl; Johann W Bauer; Barbara Kofler
Journal:  Exp Dermatol       Date:  2014-09       Impact factor: 3.960

3.  Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.

Authors:  Lynn M Boyden; Lihi Atzmony; Claire Hamilton; Jing Zhou; Young H Lim; Ronghua Hu; John Pappas; Rachel Rabin; Joseph Ekstien; Yoel Hirsch; Julie Prendiville; Richard P Lifton; Shawn Ferguson; Keith A Choate
Journal:  Am J Hum Genet       Date:  2019-10-17       Impact factor: 11.025

4.  Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.

Authors:  Hessa S Alsaif; Mohammad Al-Owain; Martin E Barrios-Llerena; Ghada Gosadi; Yousef Binamer; David Devadason; Jane Ravenscroft; Mohnish Suri; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2019-10-17       Impact factor: 11.025

5.  Afamelanotide for Erythropoietic Protoporphyria.

Authors:  Janneke G Langendonk; Manisha Balwani; Karl E Anderson; Herbert L Bonkovsky; Alexander V Anstey; D Montgomery Bissell; Joseph Bloomer; Chris Edwards; Norbert J Neumann; Charles Parker; John D Phillips; Henry W Lim; Iltefat Hamzavi; Jean-Charles Deybach; Raili Kauppinen; Lesley E Rhodes; Jorge Frank; Gillian M Murphy; Francois P J Karstens; Eric J G Sijbrands; Felix W M de Rooij; Mark Lebwohl; Hetanshi Naik; Colin R Goding; J H Paul Wilson; Robert J Desnick
Journal:  N Engl J Med       Date:  2015-07-02       Impact factor: 91.245

Review 6.  Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases.

Authors:  Carlos R Ferreira; David Cassiman; Nenad Blau
Journal:  Mol Genet Metab       Date:  2019-04-12       Impact factor: 4.797

7.  Antimitochondrial autoantibodies in pemphigus vulgaris: a missing link in disease pathophysiology.

Authors:  Steve Marchenko; Alexander I Chernyavsky; Juan Arredondo; Vivian Gindi; Sergei A Grando
Journal:  J Biol Chem       Date:  2009-12-10       Impact factor: 5.157

8.  Hair and skin disorders as signs of mitochondrial disease.

Authors:  C Bodemer; A Rötig; P Rustin; V Cormier; P Niaudet; J M Saudubray; D Rabier; A Munnich; Y de Prost
Journal:  Pediatrics       Date:  1999-02       Impact factor: 7.124

9.  Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions.

Authors:  Mira Sohn; Pavlina Ivanova; H Alex Brown; Daniel J Toth; Peter Varnai; Yeun Ju Kim; Tamas Balla
Journal:  Proc Natl Acad Sci U S A       Date:  2016-04-04       Impact factor: 11.205

10.  Pemphigus vulgaris autoantibody profiling by proteomic technique.

Authors:  Mina Kalantari-Dehaghi; Grant J Anhalt; Michael J Camilleri; Alex I Chernyavsky; Sookhee Chun; Philip L Felgner; Algis Jasinskas; Kristin M Leiferman; Li Liang; Steve Marchenko; Rie Nakajima-Sasaki; Mark R Pittelkow; John J Zone; Sergei A Grando
Journal:  PLoS One       Date:  2013-03-07       Impact factor: 3.240
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  1 in total

Review 1.  Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias.

Authors:  Teodoro Jerves; Nenad Blau; Carlos R Ferreira
Journal:  Mol Genet Metab       Date:  2022-03-28       Impact factor: 4.204
  1 in total

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