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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2022
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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. |
format | Online Article Text |
id | pubmed-9051674 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
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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