Cases with the H syndrome presenting with skin and bone findings.
Australas J Dermatol
; 65(4): 337-341, 2024 Jun.
Article
in En
| MEDLINE
| ID: mdl-38421823
ABSTRACT
BACKGROUND:
The H syndrome is an autosomal recessive disease characterized by hyperpigmentation, hypertrichosis and sensorineural hearing loss.METHODS:
A mutation in the coding of the human equilibrative nucleoside transporter 3 (hENT3) within the SLC29A3 gene on chromosome 10q22 leads to the manifestation of this disease. In this report, we present two cases of H syndrome.RESULTS:
The first patient exhibits hyperpigmentation, hypogonadism, Type 1 diabetes mellitus, arthritis and osteoporosis. The second patient experiences hyperpigmentation, hypertrichosis, osteopenia and hypogonadism.CONCLUSION:
Our objective is to broaden the clinical spectrum of H syndrome, highlighting the involvement of arthritis, hyperinflammation and low bone mineral density in individuals with this disorder.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Osteoporosis
/
Hyperpigmentation
/
Nucleoside Transport Proteins
/
Hearing Loss, Sensorineural
/
Hypertrichosis
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
En
Journal:
Australas J Dermatol
/
Australas. j. dermatol
/
Australasian journal of dermatology
Year:
2024
Document type:
Article
Affiliation country:
Turquía
Country of publication:
Australia