Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome: A case series
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F25%3A10481134" target="_blank" >RIV/00064203:_____/25:10481134 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/25:10481134
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=2cfR~PMs2n" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=2cfR~PMs2n</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1159/000536019" target="_blank" >10.1159/000536019</a>
Alternative languages
Result language
angličtina
Original language name
Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome: A case series
Original language description
INTRODUCTION: Pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID) syndrome is a rare disease, and part of the cluster Histiocytosis-lymphadenopathy plus syndrome (H syndrome), which is associated with mutations in the SLC29A3 gene. Patients with PHID show clinical features of H syndrome, but also have insulin-dependent diabetes mellitus. The PHID associated diabetes has previously been described as predominantly in absence of pancreatic autoantibodies. Case Series Presentation: Through an open call in two international diabetes registers, clinical and genetic characteristics of 7 PHID patients in 6 treatment centres were collected after informed consent. All of them had consanguinity in their families, and their origins were located in North-African and Middle Eastern regions. 4 out of 7 patients had at least one positive pancreatic autoantibody. DISCUSSION AND CONCLUSION: Our case series reveals that PHID exhibits a wide range of clinical symptoms and signs. When consanguinity is present in a patient with newly diagnosed diabetes, and/or if other atypical symptoms such as dysmorphic features, skin lesions, haematological abnormalities and developmental delay are present; threshold for genetic analysis should be low. Moreover, the presence of autoantibodies should not withhold genetic testing, as our case series contradicts the previous observation of predominant auto-antibody absence in PHID.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30209 - Paediatrics
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Hormone Research in Paediatrics
ISSN
1663-2818
e-ISSN
1663-2826
Volume of the periodical
98
Issue of the periodical within the volume
1
Country of publishing house
CH - SWITZERLAND
Number of pages
5
Pages from-to
84-88
UT code for WoS article
001241960200001
EID of the result in the Scopus database
2-s2.0-85195083253