Abstract
Uncombable hair syndrome (UHS) is a unique hair shaft disease characterized by frizzy, straw-colored hair, which is resistant to combing and brushing. Familial cases have been described, and recently mutations in genes related to trichohyalin production have been reported as the cause for this condition. UHS usually manifests during early childhood, and gradually resolves at puberty. Herein, we report on a 2-year-old boy whose hair changed to a UHS-like phenotype “overnight” with no apparent trigger. The condition resolved abruptly after 9 months. Genetic analysis revealed a heterozygous variant in the PLCD1 gene, which has been connected to hair development. This case raises the possibility that a genetic cause can lead to a temporary change in hair shaft appearance, possibly after exposure to a yet unknown external trigger.
References
1.
Ü Basmanav
FB
, Cau
L
, Tafazzoli
A
, Méchin
MC
, Wolf
S
, Romano
MT
, et al. Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome
. Am J Hum Genet
. 2016
Dec
;99
(6
):1292
–304
.
[PubMed]
0002-92972.
Piccolo
V
, Cirocco
A
, Russo
T
, Piraccini
BM
, Ronchi
A
, Argenziano
G
. Hair cross sectioning in uncombable hair syndrome: an easy tool for a complex diagnosis
. J Am Acad Dermatol
. 2018
Jun
;S0190-9622(18)32066-8
.; [Epub ahead of print
].
[PubMed]
1097-67873.
Swamy
SS
, Ravikumar
BC
, Vinay
KN
, Yashovardhana
DP
, Aggarwal
A
. Uncombable hair syndrome with a woolly hair nevus
. Indian J Dermatol Venereol Leprol
. 2017
Jan-Feb
;83
(1
):87
–8
.
[PubMed]
0378-63234.
Ramot
Y
, Molho-Pessach
V
, Meir
T
, Alper-Pinus
R
, Siam
I
, Tams
S
, et al. Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair
. J Med Genet
. 2014
Jun
;51
(6
):388
–94
.
[PubMed]
0022-25935.
Ramot
Y
, Zlotogorski
A
. Molecular genetics of alopecias
. Curr Probl Dermatol
. 2015
;47
:87
–96
.
[PubMed]
1421-57216.
Ramot
Y
, Zlotogorski
A
. The twisting tale of woolly hair: a trait with many causes
. J Med Genet
. 2015
Apr
;52
(4
):217
–23
.
[PubMed]
0022-25937.
Jeon
SY
, Pi
LQ
, Lee
WS
. Comparison of hair shaft damage after UVA and UVB irradiation
. J Cosmet Sci
. 2008
Mar-Apr
;59
(2
):151
–6
.
[PubMed]
1525-78868.
Mukherjee
SS
, Chandrashekar
BS
. Diffuse wooly hair mimicking as uncombable hair syndrome!
Indian J Pediatr Dermatol
. 2017
;18
(2
):13507
. 9.
Santos Nogueira
AC
, Joekes
I
. Hair color changes and protein damage caused by ultraviolet radiation
. J Photochem Photobiol B
. 2004
May
;74
(2-3
):109
–17
.
[PubMed]
1011-134410.
Stewart
AJ
, Mukherjee
J
, Roberts
SJ
, Lester
D
, Farquharson
C
. Identification of a novel class of mammalian phosphoinositol-specific phospholipase C enzymes
. Int J Mol Med
. 2005
Jan
;15
(1
):117
–21
.
[PubMed]
1107-375611.
Kiuru
M
, Kurban
M
, Itoh
M
, Petukhova
L
, Shimomura
Y
, Wajid
M
, et al. Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1
. Am J Hum Genet
. 2011
Jun
;88
(6
):839
–44
.
[PubMed]
0002-929712.
Nakamura
Y
, Ichinohe
M
, Hirata
M
, Matsuura
H
, Fujiwara
T
, Igarashi
T
, et al. Phospholipase C-delta1 is an essential molecule downstream of Foxn1, the gene responsible for the nude mutation, in normal hair development
. FASEB J
. 2008
Mar
;22
(3
):841
–9
.
[PubMed]
0892-663813.
Liu
YM
, Liu
W
, Jia
JS
, Chen
BZ
, Chen
HW
, Liu
Y
, et al. Abnormalities of hair structure and skin histology derived from CRISPR/Cas9-based knockout of phospholipase C-delta 1 in mice
. J Transl Med
. 2018
May
;16
(1
):141
.
[PubMed]
1479-5876© 2018 S. Karger AG, Basel
2018
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