'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.
agranulocytosis
cartilage-hair hypoplasia
immunodeficiency
malignancy
rmrp
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
01 2020
01 2020
Historique:
received:
05
03
2019
revised:
14
06
2019
accepted:
22
06
2019
pubmed:
16
8
2019
medline:
11
6
2020
entrez:
16
8
2019
Statut:
ppublish
Résumé
Metaphyseal dysplasia without hypotrichosis (MDWH) is a rare form of chondrodysplasia with no extraskeletal manifestations. MDWH is caused by We diagnosed severe agranulocytosis in a subject with We collected clinical and laboratory data for a cohort of 80 patients with In our cohort, we identified 10 patients with skeletal but no extraskeletal features during preschool age. Eight of these patients developed malignancy or clinically significant immunodeficiency during follow-up. Two of them died during chemotherapy for malignancy. At the time of the first extraskeletal manifestation, patients were school aged, 20, 43 and 50 years old. Laboratory signs of immunodeficiency (impaired lymphocyte proliferative responses) were demonstrated in four patients before the onset of symptoms. The patient outside this cohort, who had MDWH can present with severe late-onset extraskeletal manifestations and thus should be reclassified and managed as CHH.
Sections du résumé
BACKGROUND
Metaphyseal dysplasia without hypotrichosis (MDWH) is a rare form of chondrodysplasia with no extraskeletal manifestations. MDWH is caused by
OBJECTIVE
We diagnosed severe agranulocytosis in a subject with
METHODS
We collected clinical and laboratory data for a cohort of 80 patients with
RESULTS
In our cohort, we identified 10 patients with skeletal but no extraskeletal features during preschool age. Eight of these patients developed malignancy or clinically significant immunodeficiency during follow-up. Two of them died during chemotherapy for malignancy. At the time of the first extraskeletal manifestation, patients were school aged, 20, 43 and 50 years old. Laboratory signs of immunodeficiency (impaired lymphocyte proliferative responses) were demonstrated in four patients before the onset of symptoms. The patient outside this cohort, who had
CONCLUSIONS
MDWH can present with severe late-onset extraskeletal manifestations and thus should be reclassified and managed as CHH.
Identifiants
pubmed: 31413121
pii: jmedgenet-2019-106131
doi: 10.1136/jmedgenet-2019-106131
pmc: PMC6929920
doi:
Substances chimiques
RMRP non-coding RNA, human
0
RNA, Long Noncoding
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
18-22Informations de copyright
© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: UW-K declares consultancy to Pfizer, Amgen, Novartis and Sanofi. OM declares consultancy to Kyowa Kirin, Alexion and Sandoz.
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