H syndrome: A review of treatment options and a hypothesis of phenotypic variability
Funding Sponsor
King's College Hospital NHS Foundation Trust
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https://doi.org/10.1111/dth.15082
Document Type
Research Article
Publication Title
Dermatologic Therapy
Publication Date
9-1-2021
doi
10.1111/dth.15082
Abstract
H syndrome is a rare autosomal recessive disorder with clinical features comprising: hyperpigmentation, hypertrichosis, hearing loss, heart anomalies, low height, hypogonadism and hepatosplenomegaly. H syndrome results from loss-of-function mutations in SLC29A3 which leads to abnormal proliferation and function of histiocytes. Herein, we discuss the considerable phenotypic heterogeneity detected in a consanguineous Egyptian family comprising of four affected siblings, two of which are monozygotic twin and the possible therapeutics. The phenotypic variability may be attributed to the role of histiocytes in the tissue response to injury. Such variable expressivity of H syndrome renders the diagnosis challenging and delays the management. The different treatment approaches used for this rare entity are reviewed.
Recommended Citation
APA Citation
Nofal, H.
AlAkad, R.
Nofal, A.
Rabie, E.
...
(2021). H syndrome: A review of treatment options and a hypothesis of phenotypic variability. Dermatologic Therapy, 34(5),
10.1111/dth.15082
https://fount.aucegypt.edu/faculty_journal_articles/2719
MLA Citation
Nofal, Hagar, et al.
"H syndrome: A review of treatment options and a hypothesis of phenotypic variability." Dermatologic Therapy, vol. 34,no. 5, 2021,
https://fount.aucegypt.edu/faculty_journal_articles/2719