Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome: A case series

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11130/25:10481134

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome: A case series

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome: A case series

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30209 - Paediatrics

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2025

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Hormone Research in Paediatrics

ISSN

1663-2818

e-ISSN

1663-2826

Svazek periodika

98

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

CH - Švýcarská konfederace

Počet stran výsledku

5

Strana od-do

84-88

Kód UT WoS článku

001241960200001

EID výsledku v databázi Scopus

2-s2.0-85195083253