ARTICLE
Auteur(s) : Yayoi
Niimi, Seiji Kawana
Department of Dermatology, Nippon Medical School, 1-1-5,
Sendagi, Bunkyo-ku, Tokyo 113-8603, Japan
accepté le 20 Août 2008
Porokeratosis is a form of genodermatosis characterized
clinically by annular hyperkeratotic lesions and histologically by
the formation of cornoid lamellae [1]. There are at least six
different clinical types of porokeratosis, namely, classic
porokeratosis of Mibelli, linear porokeratosis, disseminated
superficial actinic porokeratosis, disseminated superficial
porokeratosis, porokeratosis palmaris et plantaris punctata, and
porokeratosis palmaris plantaris disseminata [2, 3]. The
combination of different types of porokeratosis in one individual
is rare. In this report, we describe a patient with two different
types of porokeratosis, namely, linear porokeratosis and
disseminated superficial actinic porokeratosis. This case may
represent a type 2 segmental manifestation of disseminated
superficial actinic porokeratosis.
Case report
A 7-year-old girl presented with widespread eruptions on her face
and the left side of her body. When she was 2 years old, a
centrifugal lesion on her left abdomen appeared. At the age of 3,
after sun exposure when she went swimming in the sea, she developed
scattered lesions on both cheeks. At the age of 5, she developed
numerous small lesions on the left side of her body in a linear
fashion. Her medical history was unremarkable. On examination, she
presented with light-brown annular hyperkeratotic lesions,
2-7 mm in diameter, symmetrically distributed on both cheeks
(figure 1A). On
her left arm, left chest, left abdomen and left leg, there were
numerous small light-brown hyperkeratotic annular lesions, up to
8 mm in diameter, distributed linearly along the lines of
Blaschko (figure 1B,
C). She also had a large solitary irregularly shaped lesion
surrounded by a hyperkeratotic ridge on her left abdomen
intermingled with multiple small annular lesions (figure 1D). Some lesions
were pruritic. No other family member had similar skin eruptions.
The initial diagnosis was porokeratosis, while epidermal nevus was
also considered. A biopsy specimen was obtained from the
lesions on her left abdomen, from the large lesion to the small
lesion. Histological findings revealed an invagination of the
epidermis with a column of parakeratotic cells (cornoid lamella)
overlying an absent granular layer, dyskeratosis in the epidermis,
and scant dermal perivascular lymphocytic infiltrate at each
keratotic ridge of the small annular lesion and large lesion (figure 2A, B).
Between the edges of the large lesion, hyperkeratosis,
parakeratosis and a lichenoid tissue reaction with bandlike
lymphocytic infiltration and dilated vessels in the upper dermis
were observed (figure
2C). We diagnosed this patient as having linear
porokeratosis on the left side of her body and disseminated
superficial actinic porokeratosis on her face. We recommended that
she should avoid sun exposure and use sunscreens. We treated the
lesion on her face with topical maxacalcitol (vitamine D3 analogue)
ointment and the lesions on her thigh with cryotherapy with liquid
nitrogen. Her facial lesions faded and the lesions on her thigh
disappeared after cryotherapy. After several visits, she did not
show up on the consultation day and the course of her porokeratosis
thereafter is unknown.
Discussion
Porokeratosis is a clonal disease characterized by keratotic
abnormalities with autosomal dominant inheritation [1]. It is
considered to be a form of genodermatosis, because congenital and
familial cases are observed.
In 1893, Mibelli reported the case of a male patient with
hyperkeratotic, irregular plaques with central atrophy and a
prominent peripheral keratotic ridge, and proposed the name
porokeratosis (classic porokeratosis of Mibelli, CP) [4]. In 1937,
Andrews named a type of porokeratosis characterized by widespread
small keratotic lesions as disseminated superficial porokeratosis
(DSP) [5]. In 1966, Chernosky & Freeman described an actinic
form of DSP and named it disseminated superficial actinic
porokeratosis (DSAP) [6]. In 1971, Guss et al. described a type of
porokeratosis that starts on the palms and soles and spreads
throughout the body and named it porokeratosis palmaris et
plantaris disseminata (PPPD) [7]. In 1974, Rabhari et al. reported
a type of linearly distributed porokeratosis and named it linear
porokeratosis (LP) [8]. In 1977, Rabhari et al. described a type of
porokeratosis restricted to the palms and soles and named it
porokeratosis palmaris et plantaris punctata (PPPP) [9]. There are
some other variants of porokeratosis, such as hyperkeratotic
porokeratosis [10], giant porokeratosis [11], hypertrophic perianal
porokeratosis [12] and eruptive pruritic papular porokeratosis
[13]. Each type of porokeratosis has distinct clinical features and
distribution. Nevertheless, all these types are associated with
cornoid lamellae as a common histological feature.
Here, we described a case of porokeratosis in which two
different clinical types of porokeratosis existed together in a
girl. We diagnosed her facial eruption as DSAP because the small
lesions were distributed symmetrically on both cheeks, did not
follow the lines of Blaschko, and appeared after ultraviolet
exposure at the age of 3. DSAP usually appears on ultraviolet
exposed skin such as the arms and legs. Fifteen percent of patients
with generalized DSAP have facial lesions [6]. However, DSAP only
on the face is uncommon. Sawyer and Picou reported the case of a
20-year-old man with DSAP located solely on the face, and Navarro
et al. also reported the case of an 18-year-old boy with DSAP
characterized by exclusive facial involvement [14, 15]. We also
considered our patient as having facial DSAP. On the other hand, we
are certain about the LP diagnosis concerning the eruptions on the
left side of her body surface because of the linear distribution of
the eruptions along the lines of Blaschko.
The centrifugal lesion on her left abdomen which appeared at the
age of 2 was irregularly shaped and larger than the other
eruptions. We considered this eruption as a part of LP because this
large lesion was surrounded by linearly distributed small
porokeratotic lesions along the lines of Blaschko.
The association of different types of porokeratosis is rare. To
our knowledge, only 25 cases have been documented in the English
medical literature [11, 12, 16-36]. The most common combination is
that of LP and DSAP, as observed in our patient. In this pattern,
LP is usually the first type of porokeratosis that is expressed in
childhood, and later, DSAP appears between the ages of 30 to 40.
Happle proposed the loss of heterozygosity caused by somatic
recombination as an explanation for this association [37]. An
individual with DSAP is heterozygous for the underlying mutation.
In the case of an autosomal dominant trait, at the early stage of
embryogenesis, somatic crossing-over, nondisjunction, or deletion
may occur involving this gene locus, and this may cause the loss of
heterozygosity. A homozygous or hemizygous daughter cell that
would represent a precursor cell of a clone which grows out in a
linear pattern following the lines of Blaschko. Happle applied the
concept of type 2 segmental involvement to explain the phenomenon
observed in the combination of LP and DSAP, such as the more
pronounced LP lesions than DSAP lesions, LP expression at a much
earlier age than DSAP expression, and the relatively high malignant
potential of LP [24]. Among 25 reported cases, 21 cases represented
type 2 segmental manifestation. These cases are summarized in table 1. The cases of combination of different
types of porokeratosis other than type 2 manifestation are
relatively rare (table 2).
In our patient, the combination of LP and DSAP may be a result
of the loss of heterozygosity. LP appeared as a large centrifugal
lesion at the age of 2 and DSAP appeared at the age of 3. Usually
DSAP appears between the ages of 30-40. It is possible that our
patient is susceptible to ultraviolet light for some reason and
DSAP appeared first after strong ultraviolet exposure at the age of
3. In this case, it is possible that DSAP may appear on the body
surfaces other than the face between the ages of 30 to 40.
Various treatments have been applied for porokeratosis, such as
keratolytic agents, topical or intralesional corticosteroids,
topical tretinoin, topical 5-fluorouracil, topical vitamin D3,
systemic retinoids, systemic corticosteroids, cryotherapy with
liquid nitrogen, electrodessication, CO2 laser, surgical
excision or dermabrasion [1-3, 38, 39]. However, the results were
unsatisfactory. In our patient, the facial lesions faded after
treatment with topical maxacalcitol (vitamine D3 analogue)
ointment, and the lesions on the thigh disappeared after
cryotherapy with liquid nitrogen, showing a moderate effect.
However, long-term follow up is necessary to determine the efficacy
of these treatments.
Table 1 Reported cases of combination of different
types of porokeratosis with type 2 segmental DSAP
|
No
|
Reference (year)
|
Age
|
Sex
|
Combination
|
First type
|
|
Second type
|
|
Third type
|
|
|
|
|
|
|
Onset (year)
|
Type
|
Onset (year)
|
Type
|
Onset (year)
|
Type
|
|
1
|
Welton WA (1972)
|
36
|
F
|
LP + DSAP
|
5
|
LP
|
After puberty
|
DSAP
|
–
|
–
|
|
2
|
Machino H et al. (1984)
|
49
|
M
|
LP + DSAP
|
13
|
LP
|
NM
|
DSAP
|
–
|
–
|
|
3
|
Dover JS et al. (1986)
|
51
|
F
|
CP + DSAP
|
Childhood
|
CP
|
25
|
DSAP
|
–
|
–
|
|
4
|
|
55
|
F
|
LP + CP + DSAP
|
Birth
|
LP
|
Birth
|
CP
|
35
|
DSAP
|
|
5
|
Commens CA & Shumack SP(1987)
|
23
|
F
|
LP + DSAP
|
15
|
LP
|
NM
|
DSAP
|
–
|
–
|
|
6
|
Park JH et al. (1987)
|
43
|
F
|
LP + DSAP
|
Infant
|
LP
|
41
|
DSAP
|
–
|
–
|
|
7
|
FeldmanSR et al. (1991)
|
30
|
F
|
LP + DSAP
|
0.5
|
LP
|
29
|
DSAP
|
–
|
–
|
|
8
|
Morton CA et al. (1995)
|
38
|
M
|
LP + DSP
|
Birth
|
LP
|
38
|
DSP
|
–
|
–
|
|
9
|
Gautam RK et al. (1995)
|
42
|
F
|
LP + DSAP + PP
|
39
|
LP
|
39
|
DSAP
|
39
|
PP
|
|
10
|
Freyschmidt-Paul P et al. (1999)
|
57
|
F
|
LP + DSAP
|
42
|
LP
|
50
|
DSAP
|
–
|
–
|
|
11
|
|
55
|
F
|
LP + DSAP
|
40
|
LP
|
NM
|
DSAP
|
–
|
–
|
|
12
|
Suh DH et al. (2000)
|
5
|
F
|
LP + DSP
|
Birth
|
LP
|
3
|
DSP
|
–
|
–
|
|
13
|
Murata Y et al. (2001)
|
61
|
F
|
LP + DSP
|
Early teens
|
LP
|
NM
|
DSP
|
–
|
–
|
|
14
|
Kaur S et al. (2002)
|
24
|
M
|
LP + DSAP
|
Birth
|
LP
|
22
|
DSAP
|
–
|
–
|
|
15
|
Boente M et al. (2003)
|
3
|
F
|
LP + DSAP
|
2
|
LP
|
NM
|
DSAP
|
–
|
–
|
|
16
|
Pearson IC & Cliff S (2003)
|
30
|
F
|
LP + DSP
|
8
|
LP
|
28
|
DSP
|
–
|
–
|
|
17
|
Hanumanthayya K et al. (2003)
|
45
|
F
|
GP + DSP
|
15
|
GP
|
45
|
DSP
|
–
|
–
|
|
18
|
Mukhopadhyay AK (2004)
|
23mo
|
M
|
LP + DSP + HVP
|
0.25
|
LP
|
0.25
|
DSP
|
0.25
|
HVP
|
|
19
|
Lin J-H et al. (2006)
|
77
|
M
|
CP + DSAP + GHP
|
NM
|
CP
|
NM
|
DSAP
|
NM
|
GHP
|
|
20
|
Suaez-Amor O et al. (2007)
|
48
|
F
|
LP + DSAP
|
Childhood
|
LP
|
44
|
DSAP
|
–
|
–
|
|
21
|
Palleschi GM & Torchia D (2008)
|
58
|
F
|
CP + DSP
|
38
|
CP
|
38
|
DSP
|
–
|
–
|
Table 2 Reported cases of combination of different
types of porokeratosis other than type 2 segmental DSAP
|
No
|
Reference (year)
|
Age
|
Sex
|
Combination
|
First type
|
|
Second type
|
|
Third type
|
|
|
|
|
|
|
Onset (year)
|
Type
|
Onset (year)
|
Type
|
Onset (year)
|
Type
|
|
1
|
Hunt SJ et al. (1991)
|
31
|
F
|
LP + PPPD + HP
|
17
|
LP
|
17
|
PPPD
|
17
|
HP
|
|
2
|
Lucker GP & Steijleun PM (1994)
|
68
|
M
|
LP + GP
|
Birth
|
LP
|
Birth
|
GP
|
–
|
–
|
|
3
|
Thomas C et al. (2003)
|
78
|
F
|
DSAP + HAP
|
78
|
DSAP
|
79
|
HPP
|
–
|
–
|
|
4
|
Sengupta S et al. (2005)
|
40
|
M
|
PPPD + GP
|
30
|
PPPD
|
30
|
GP
|
–
|
–
|
Acknowledgements
Financial support: none. Conflict of interest: none.
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