Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil.
Antihypertensive Agents
/ adverse effects
Biopsy
Cardiomegaly
/ genetics
Child
Child, Preschool
Female
Hair Follicle
/ pathology
Hirsutism
/ chemically induced
Humans
Hypertrichosis
/ genetics
Male
Minoxidil
/ adverse effects
Mutation
Osteochondrodysplasias
/ genetics
Sebaceous Glands
/ pathology
Sulfonylurea Receptors
/ genetics
ABCC9
Cantu syndrome
hypertrichosis
minoxidil
sebaceous gland
Journal
The Journal of dermatology
ISSN: 1346-8138
Titre abrégé: J Dermatol
Pays: England
ID NLM: 7600545
Informations de publication
Date de publication:
Mar 2020
Mar 2020
Historique:
received:
02
10
2019
accepted:
05
12
2019
pubmed:
8
1
2020
medline:
15
12
2020
entrez:
8
1
2020
Statut:
ppublish
Résumé
Cantu syndrome is an autosomal dominant disorder, first described by Cantu in 1982, that is characterized by congenital hypertrichosis, characteristic facial anomalies and cardiomegaly. Recent investigations have revealed that this syndrome is caused by mutations of ABCC9, which encodes a regulatory subunit of SUR2, an adenosine triphosphate-mediated potassium channel opener, expressed not only in smooth muscle but also in hair follicles. However, the abnormalities of skin and hair in patients with Cantu syndrome have not been well explored. We herein report three Japanese patients with Cantu syndrome and describe their specific skin manifestations and alterations in the histopathology of their hair follicles and sebaceous glands. Similar alterations were shared among those three patients and may be related to the function of SUR2, namely the regulation of hair follicle growth, because SUR2 is a known pharmacological target of minoxidil.
Identifiants
pubmed: 31907964
doi: 10.1111/1346-8138.15216
doi:
Substances chimiques
ABCC9 protein, human
0
Antihypertensive Agents
0
Sulfonylurea Receptors
0
Minoxidil
5965120SH1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
306-310Subventions
Organisme : the Japan Society for the Promotion of Science Grant-in-Aid for Scientific Research
ID : C, 17K10211
Informations de copyright
© 2020 Japanese Dermatological Association.
Références
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