
	Version PDF

Type 2 segmental manifestation of disseminated superficial actinic porokeratosis in a 7-year-old girl

European Journal of Dermatology. Volume 19, Number 1, 25-8, January-February 2009, Genes and skin

DOI : 10.1684/ejd.2008.0567

Summary

Author(s) : Yayoi Niimi, Seiji Kawana , Department of Dermatology, Nippon Medical School, 1-1-5, Sendagi, Bunkyo-ku, Tokyo 113-8603, Japan.

Summary : We report here a rare case of porokeratosis in which two different clinical types of porokeratosis (linear porokeratosis and disseminated superficial actinic porokeratosis) coexisted. A 7-year-old girl developed a centrifugal lesion on her left abdomen at the age of 2, disseminated superficial actinic porokeratosis on her face at the age of 3 after ultraviolet exposure, and linear porokeratosis on her left body at the age of 5. Histological findings corresponded with cornoid lamella. She was treated with topical maxacalcitol ointment and cryotherapy with considerable improvement. The combination of different types of porokeratosis in one individual is rare. We consider that this case may represent a type 2 segmental manifestation of disseminated superficial actinic porokeratosis.

Keywords : porokeratosis, linear porokeratosis, disseminated superficial actinic porokeratosis, combination, cornoid lamella

Pictures

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.

References

1 Wolff-Schreiner EC. Porokeratosis. Dermatology in general medicine, 6^th Ed. New York: McGraw Hill, 2003; (532-7).

2 Schamroth JM, Zlotogorski A, Gilead L. Porokeratosis of Mibelli. Overview and review of the literature. Acta Derm Venereol 1997; 77: 207-13.

3 Sehgal VN, Jain S, Singh N. Porokeratosis. J Dermatol 1996; 23: 517-25.

4 Mibelli V. Contributo allo studio della ipercheratosi dei canali sudoriferi. Gior Ital d Mal Ven 1893; 28: 313-55.

5 Andrews GC. Porokeratosis (Mibelli) disseminated and superficial type. Arch Dermatol Syphilol 1937; 36: 1111.

6 Chernosky ME, Freeman RG. Disseminated superficial actinic porokeratosis (DSAP). Arch Dermatol 1967; 96: 611-24.

7 Guss SB, Osbourn RA, Lutzner MA. Porokeratosis plantaris, palmaris, et disseminata: a third type of porokeratosis. Arch Dermatol 1971; 104: 366-73.

8 Rahbari H, Cordero AA, Aires B, et al. Linear porokeratosis. Arch Dermatol 1974; 109: 526-8.

9 Rahbari H, Cordero AA, Mehregan AH. Punctate porokeratosis: A clinical variant of porokeratosis of Mibelli. J Cutan Pathol 1977; 4: 338-41.

10 Sato A, Böhm W, Bersch A. Hyperkeratotic form of porokeratosis Mibelli. Dermatologica 1977; 155: 340-9.

11 Lucker GPH, Steijlen PM. The coexistence of linear and giant porokeratosis associated with Bowen’s disease. Dermatology 1994; 189: 78-80.

12 Thomas C, Ogboli MI, Carr RA, et al. Hypertrophic perianal porokeratosis in association with superficial actinic porokeratosis of the leg. Clin Exp Dermatol 2003; 28: 676-7.

13 Kanzaki T, Miwa N, Kobayashi T, et al. Eruptive pruritic papular porokeratosis. J Dermatol 1992; 19: 109-12.

14 Sawyer R, Picou KA. Facial presentation of disseminated superficial actinic porokeratosis. Ear Nose Throat J 1989; 68: 57-9.

15 Navarro V, Pinazo I, Martínez E, et al. Facial superficial porokeratosis. Dermatology 2000; 201: 361.

16 Welton WA. Linear porokeratosis in a family with DSAP. Arch Dermatol 1972; 106: 263.

17 Dover JS, Phillips TJ, Burns DA, et al. Disseminated superficial actinic porokeratosis. Coexistence with other porokeratotic variants. Arch Dermatol 1986; 122: 887-9.

18 Commens CA, Shumack SP. Linear porokeratosis in two families with disseminated superficial actinic porokeratosis. Pediatric Dermatol 1987; 4: 209-14.

19 Park JH, Choi IS, Jung SW, et al. Coexistence of linear porokeratosis with disseminated superficial actinic porokeratosis. Kor J Dermatol 1987; 25: 146-9.

20 Hunt SJ, Sharra WG, Abell E. Linear and punctate porokeratosis associated with end-stage liver disease. J Am Acad Dermatol 1991; 25: 937-9.

21 Feldman SR, Crosby DL, Tomsick RS. Scaly atrophic lesions both scattered and in linear arrays. Arch Dermatol 1991; 127: 1219-22.

22 Morton CA, Shuttleworth D, Douglas WS. Porokeratosis and Crohn’s disease. Arch Dermatol 1995; 32: 894-7.

23 Gautam RK, Bedi GK, Sehgal VN, et al. Simultaneous occurrence of disseminated superficial actinic porokeratosis (DSAP), linear and punctate porokeratosis. Int J Dermatol 1995; 34: 71-2.

24 Freyschmidt-Paul P, Hoffmann R, König A, et al. Linear porokeratosis superimposed on disseminated superficial actinic porokeratosis: report of two cases exemplifying the concept of type 2 segmental manifestation of autosomal dominant skin disorders. J Am Acad Dermatol 1999; 41: 644-7.

25 Suh DH, Lee HS, Kim SD, et al. Coexistence of disseminated superficial porokeratosis in childhood with congenital linear porokeratosis. Pediatr Dermatol 2000; 17: 466-8.

26 Kaur S, Thami GP, Mohan H, et al. Co-existence of variants of porokeratosis: a case report and a review of the literature. J Dermatol 2002; 29: 305-9.

27 Boente M, López-Baró AM, Frontini M, et al. Linear porokeratosis associated with disseminated superficial actinic porokeratosis: a new example of type II segmental involvement. Pediatr Dermatol 2003; 20: 514-8.

28 Pearson IC, Cliff S. Case 6. Clin Exp Dermatol 2003; 28: 345-6.

29 Hanumanthayya K, Magavi S, Tophakhane R, et al. Coexistence of disseminated superficial and giant porokeratosis of Mibelli with squamous cell carcinoma. Indian J Dermatol Venereol Leprol 2003; 69: 296-7.

30 Mukhopadhyay AK. Simultaneous occurrence of disseminated superficial, linear and hypertrophic verrucous forms of porokeratosis in a child. Indian J Dermatol Venereol Leprol 2004; 70: 364-6.

31 Sengupta S, Das J, Gangopadhyay A. Multicentric squamous cell carcinoma over lesions of porokeratosis palmaris et plantaris disseminata and giant porokeratosis. Ind J Dermatol Venereol Leprol 2005; 71: 414-6.

32 Lin JH, Hsu MML, Sheu HM, et al. Coexistence of three variants of porokeratosis with multiple squamous cell carcinomas arising from lesions of giant hyperkeratotic porokeratosis. J Eur Acad Dermatol Venereol 2006; 18: 621-3.

33 Suárez-Amor O, Pereiro-Ferreirós M, Ginarte M, et al. Coexistence of linear porokeratosis and disseminated superficial actinic porokeratosis: a type 2 segmental manifestation. Acta Derm Venereol 2007; 87: 363-4.

34 Palleschi GM, Torchia D. Porokeratosis of Mibelli and superficial disseminated porokeratosis. J Cutan Pathol 2008; 35: 253-5.

35 Machino H, Miki Y, Teramoto T, et al. Cytogenetic studies in a patient with porokeratosis of Mibelli, multiple cancers and a forme fruste of Werner’s syndrome. Br J Dermatol 1984; 111: 579-86.

36 Murata Y, Kumano K, Takai T. Type 2 segmental manifestation of disseminated superficial porokeratosis showing a systematized pattern of involvement and pronounced cancer proneness. Eur J Dermatol 2001; 11: 191-4.

37 Happle R. Somatic recombination may explain linear porokeratosis associated with disseminated superficial actinic porokeratosis. Am J Med Genet 1991; 39: 237.

38 Böhm M, Luger TA, Bonsmann G. Disseminated superficial actinic porokeratosis: treatment with topical tacalcitol. J Am Acad Dermatol 1999; 40: 479-80.

39 Harrison PV, Stollery N. Disseminated superficial actinic porokeratosis responding to calcipotriol. Clin Exp Dermatol 1994; 19: 95.