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in Oncology and Haematology
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Cancer Prone Disease Section
Mini Review
Porokeratosis of Mibelli
Daniele Torchia
Department of Dermatological Sciences and Department of Experimental Pathology and Oncology,
University of Florence, 50121 Florence, Italy (DT)
Published in Atlas Database: June 2008
Online updated version : http://AtlasGeneticsOncology.org/Kprones/PorokeratosisMibelliID10106.html
DOI: 10.4267/2042/44503
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2009 Atlas of Genetics and Cytogenetics in Oncology and Haematology
annular plaques with a thin border. PK is most often
asymptomatic and progresses slowly: lesions increase
in size and number over the years, but on rare
occasions may undergo inflammatory changes and
regress spontaneously.
PK may be induced by immunosuppression,
particularly
in
Iatrogenic
conditions
(organ
transplantation, drug intake). An association with
craniosynostosis and anal anomalies (CAP syndrome)
has been described.
The histological examination, often required to confirm
the diagnosis, shows an hallmark feature, i.e. an
oblique column of parakeratosis within the epidermal
stratum corneum that points away from the center of
the lesion (so called "cornoid lamella").
Identity
Note: Porokeratosis (PK) is a term encompassing a
group of uncommon diseases of keratinization,
presenting with varying clinical aspects but sharing a
common histopathological aspect, i.e. the presence of
the "cornoid lamella".
Inheritance: PK is thought to be the phenotypic
expression of a common genetic disorder that may be
inherited as an autosomal dominant trait with partial
penetrance or, most often, result from somatic
mutations.
Clinics
Phenotype and clinics
Neoplastic risk
After the first descriptions made by Mibelli and
Respighi in 1893, a bewildering number of PK variants
has been described.
The main PK types can be divided clinically into:
1) localized forms, which include classic (or plaquetype), linear (LPK) and punctate; and
2) disseminated forms, which include disseminated
superficial PK (DSP), disseminated superficial actinic
PK (DSAP, the commonest form) and PK palmaris,
plantaris et disseminata (PPPD).
Localized forms typically feature few acral papules that
slowly enlarge in a centrifugal fashion till becoming a
prominent plaque with an atrophic center and a raised,
"M"-shaped section border. Instead, disseminate forms
are characterized by many papules scattered on large
cutaneous areas and enlarging to superficial and
It has been estimated that 6.9% to 11.6% of PK cases
will undergo malignant transformation into Bowen's
disease, basal-cell carcinomas and squamous-cell
carcinomas of the skin. The most prone variant is LPK.
The latency average is more than 30 years. Metastatic
disease has been very rarely reported.
Atlas Genet Cytogenet Oncol Haematol. 2009; 13(6)
Treatment
PK is often refractory to treatment and no adequate
clinical trials are available. Localized lesions may be
removed by surgical excision, cryotherapy, laser and
dermabrasion. Uncontrolled reports have noted varying
responses to topical corticosteroids, tretinoin,
calcipotriol and 5-fluorouracil. Systemic etretinate and
corticosteroids have been used. Photoprotection is
recommended in patients with DSAP.
453
Porokeratosis of Mibelli
Torchia D
Flanagan N, Boyadjiev SA, Harper J, Kyne L, Earley M,
Watson R, Jabs EW, Geraghty MT. Familial craniosynostosis,
anal anomalies, and porokeratosis: CAP syndrome. J Med
Genet. 1998 Sep;35(9):763-6
Cytogenetics
Note
Cultured fibroblasts derived from PK lesions exhibited
instability of the short arm of chromosome 3, as well as
numerous rearrangements and clone formation.
Abnormal clones with abnormal DNA ploidy have
been demonstrated within the cornoid lamella.
Kanitakis J, Euvrard S, Faure M, Claudy A. Porokeratosis and
immunosuppression. Eur J Dermatol. 1998 Oct-Nov;8(7):45965
Xia JH, Yang YF, Deng H, Tang BS, Tang DS, He YG, Xia K,
Chen SX, Li YX, Pan Q, Long ZG, Dai HP, Liao XD, Xiao JF,
Liu ZR, Lu CY, Yu KP, Deng HX. Identification of a locus for
disseminated superficial actinic porokeratosis at chromosome
12q23.2-24.1. J Invest Dermatol. 2000 Jun;114(6):1071-4
Genes involved and proteins
Note
No genes have been demonstrated to cause PK to date.
Three genetic loci were identified in families affected
by DSAP, i.e. 12q23.2-24.1 (DSAP1), 15q25.1-26.1
(DSAP2) and 1p31.3-p31.1 (DSAP3). Two candidate
genes at the DSAP1 locus (SSH1 and SART3) were
characterized. It remains to be determined which one of
the two genes or a different gene is the DSAP-causing
gene at this locus. Similarly, on DSAP3 eight candidate
genes were sequenced, but found to be negative for
functional sequence variants.
Two genetic loci for other two subtypes of PK were
also mapped, one for DSP on 18p11.3 and one for
PPPD on 12q24.1-24.2 .
Xia K, Deng H, Xia JH, Zheng D, Zhang HL, Lu CY, Li CQ, Pan
Q, Dai HP, Yang YF, Long ZG, Deng HX. A novel locus
(DSAP2) for disseminated superficial actinic porokeratosis
maps to chromosome 15q25.1-26.1. Br J Dermatol. 2002
Oct;147(4):650-4
Wei SC, Yang S, Li M, Song YX, Zhang XQ, Bu L, Zheng GY,
Kong XY, Zhang XJ. Identification of a locus for porokeratosis
palmaris et plantaris disseminata to a 6.9-cM region at
chromosome
12q24.1-24.2.
Br
J
Dermatol.
2003
Aug;149(2):261-7
Wei S, Yang S, Lin D, Li M, Zhang X, Bu L, Zheng G, Hu L,
Kong X, Zhang X. A novel locus for disseminated superficial
porokeratosis maps to chromosome 18p11.3. J Invest
Dermatol. 2004 Nov;123(5):872-5
Zhang Z, Niu Z, Yuan W, Liu W, Xiang L, Zhang J, Chu X,
Zhao J, Jiang F, Chai B, Cui F, Wang Y, Zhang K, Wang Y, Xu
S, Xia L, Gu J, Zhang S, Meng X, Wang S, Gao S, Fan M, Nie
L, Zheng Z, Huang W. Fine mapping and identification of a
candidate gene SSH1 in disseminated superficial actinic
porokeratosis. Hum Mutat. 2004 Nov;24(5):438
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This article should be referenced as such:
Schamroth JM, Zlotogorski A, Gilead L. Porokeratosis of
Torchia D. Porokeratosis of Mibelli. Atlas Genet Cytogenet
Oncol Haematol. 2009; 13(6):453-454.
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