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Review of the current literature on H syndrome treatment

H syndrome is a systemic inherited autosomal recessive histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations and a most common genetic mutation (OMIM 612391) as SLC29A3. The term “H Syndrome” is representative of presentation with hyperpigmentation, hypertrichosi...

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Autores principales: Saleh Anaraki, Kimia, Khosravi, Sepehr, Behrangi, Elham, Sadeghzadeh-Bazargan, Afsaneh, Goodarzi, Azadeh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9051674/
https://www.ncbi.nlm.nih.gov/pubmed/35495792
http://dx.doi.org/10.4103/jfmpc.jfmpc_1435_21
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author Saleh Anaraki, Kimia
Khosravi, Sepehr
Behrangi, Elham
Sadeghzadeh-Bazargan, Afsaneh
Goodarzi, Azadeh
author_facet Saleh Anaraki, Kimia
Khosravi, Sepehr
Behrangi, Elham
Sadeghzadeh-Bazargan, Afsaneh
Goodarzi, Azadeh
author_sort Saleh Anaraki, Kimia
collection PubMed
description H syndrome is a systemic inherited autosomal recessive histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations and a most common genetic mutation (OMIM 612391) as SLC29A3. The term “H Syndrome” is representative of presentation with hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and, occasionally, hyperglycemia. H syndrome is new and growing entity in medicine. This syndrome is not specific to a region or a nationality. There are very few treatment experiences on H Syndrome patients and most of them are unsatisfactory apart from hypertrichosis, which is able to treat almost permanently by hair removal lasers. Latest findings suggest that there is possibility of prevention of short stature or other cutaneous or systemic complications in this syndrome with earlier diagnosis and treatment. We searched Medline, Scopus, Web of Sciences, and Google Scholar, up to now and reviewed previous published papers with emphasis on treatment methods and its effects on certain common symptoms.
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spelling pubmed-90516742022-04-30 Review of the current literature on H syndrome treatment Saleh Anaraki, Kimia Khosravi, Sepehr Behrangi, Elham Sadeghzadeh-Bazargan, Afsaneh Goodarzi, Azadeh J Family Med Prim Care Review Article H syndrome is a systemic inherited autosomal recessive histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations and a most common genetic mutation (OMIM 612391) as SLC29A3. The term “H Syndrome” is representative of presentation with hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and, occasionally, hyperglycemia. H syndrome is new and growing entity in medicine. This syndrome is not specific to a region or a nationality. There are very few treatment experiences on H Syndrome patients and most of them are unsatisfactory apart from hypertrichosis, which is able to treat almost permanently by hair removal lasers. Latest findings suggest that there is possibility of prevention of short stature or other cutaneous or systemic complications in this syndrome with earlier diagnosis and treatment. We searched Medline, Scopus, Web of Sciences, and Google Scholar, up to now and reviewed previous published papers with emphasis on treatment methods and its effects on certain common symptoms. Wolters Kluwer - Medknow 2022-03 2022-03-10 /pmc/articles/PMC9051674/ /pubmed/35495792 http://dx.doi.org/10.4103/jfmpc.jfmpc_1435_21 Text en Copyright: © 2022 Journal of Family Medicine and Primary Care https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Review Article
Saleh Anaraki, Kimia
Khosravi, Sepehr
Behrangi, Elham
Sadeghzadeh-Bazargan, Afsaneh
Goodarzi, Azadeh
Review of the current literature on H syndrome treatment
title Review of the current literature on H syndrome treatment
title_full Review of the current literature on H syndrome treatment
title_fullStr Review of the current literature on H syndrome treatment
title_full_unstemmed Review of the current literature on H syndrome treatment
title_short Review of the current literature on H syndrome treatment
title_sort review of the current literature on h syndrome treatment
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9051674/
https://www.ncbi.nlm.nih.gov/pubmed/35495792
http://dx.doi.org/10.4103/jfmpc.jfmpc_1435_21
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