H syndrome: Difference between revisions
m Dating maintenance tags: {{Cn}} |
MishkaMouse (talk | contribs) →Presentation: Source-edit: Added reliable source |
||
| Line 29: | Line 29: | ||
It is also known as Faisalabad histocytosis, familial Rosai-Dorfman disease, sinus histocytosis with massive lymphadenopathy and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. |
It is also known as Faisalabad histocytosis, familial Rosai-Dorfman disease, sinus histocytosis with massive lymphadenopathy and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. |
||
<ref>{{cite journal |last1=Dilip |first1=Meena |last2=Chauhan |first2=Payal |last3=Hazarika |first3=Neirita |last4=Kumar Kansal |first4=Naveen |title=H Syndrome: A Case Report and Review of Literature |journal=Indian Journal of Dermatology |date=Jan-Feb 2018 |volume=63 |issue=1 |pages=76-78 |doi=10.4103/ijd.IJD_264_17 |pmid=29527032 |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838761/#:~:text=H%20syndrome%20is%20a%20rare,low%20height%2C%20and%20hallux%20valgus. |access-date=May 31, 2022}}</ref>==Presentation== |
|||
==Presentation== |
|||
This syndrome has a number of different clinical features many of which start with the letter 'H' giving rise to the name of the syndrome. These features include{{cn|date=October 2021}} |
This syndrome has a number of different clinical features many of which start with the letter 'H' giving rise to the name of the syndrome. These features include{{cn|date=October 2021}} |
||
Revision as of 21:44, 31 May 2022
 |
| H syndrome | |
|---|---|
| Other names | Histiocytosis-lymphadenopathy plus syndrome |
 | |
| This condition is inherited in an autosomal recessive manner | |
H syndrome, also known as Histiocytosis-lymphadenopathy plus syndrome or PHID,[1] is a rare genetic condition caused by mutations in the SLC29A3 gene which encode the human equilibrative nucleoside transporter (hENT3) protein.[2]
It is also known as Faisalabad histocytosis, familial Rosai-Dorfman disease, sinus histocytosis with massive lymphadenopathy and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. [3]==Presentation==
This syndrome has a number of different clinical features many of which start with the letter 'H' giving rise to the name of the syndrome. These features include[citation needed]
- Hyperpigmentation
- Hypertrichosis
- Hepatosplenomegaly
- Hearing loss
- Heart anomalies
- Hypogonadism
- Low height (short stature)
- Hyperglycemia/diabetes mellitus
- Hallux valgus/flexion contractures
Exophthalmos, malabsorption and renal anomalies have also been reported.[citation needed]
Genetics
The SLC29A3 gene is located on the long arm of chromosome 10 (10q22).[citation needed]The causative gene was identified in 2010.[4]
Pathogenesis
This is not understood at present.[citation needed]
Management
There is no curative treatment for this condition at present. Management is directed to the clinical features.[citation needed]
History
This condition was first described in 1998.[5]
References
- ^ Virginia P. Sybert (2017). Genetic Skin Disorders. Oxford University Press. pp. 182–. ISBN 978-0-19-027648-5.
- ^ Moynihan L M, Bundey SE, Heath D, Jones EL, McHale DP, Mueller RF, Markham, AF, Lench NJ (1998) Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness. Am J Hum Genet 62: 1123-1128
- ^ Dilip, Meena; Chauhan, Payal; Hazarika, Neirita; Kumar Kansal, Naveen (Jan–Feb 2018). "H Syndrome: A Case Report and Review of Literature". Indian Journal of Dermatology. 63 (1): 76–78. doi:10.4103/ijd.IJD_264_17. PMID 29527032. Retrieved May 31, 2022.
{{cite journal}}: CS1 maint: date format (link) CS1 maint: unflagged free DOI (link) - ^ Morgan NV, Morris MR, Cangul H, Gleeson D, Straatman-Iwanowska A, Davies N, Keenan S, Pasha S, Rahman F, Gentle D, Vreeswijk MPG, Devilee P, and 10 others. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. PLoS Genet. 6: e1000833
- ^ Moynihan L M, Bundey SE, Heath D, Jones EL, McHale DP, Mueller RF, Markham, AF, Lench NJ (1998) Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness. Am J Hum Genet 62: 1123-1128