Chapter 51 - Porokeratosis Flashcards
TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date
GENE
Porokeratosis 1
(porokeratosis of Mibelli)
PMVK
TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date
GENE
Porokeratosis 3
(disseminated superficial actinic porokeratosis 1)
MVK
TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date
GENE
Porokeratosis 7
(multiple types)
MVD
TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date
GENE
Porokeratosis 8
(disseminated superficial actinic porokeratosis 4)
SLC17A9
TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date
GENE
Porokeratosis 9
(multiple types)
FDPS
TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date
GENE
CDAGS syndrome
(craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies, genitourinary malformations, skin eruption)
?RUNX2
TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date
INHERITANCE
Porokeratosis 1
(porokeratosis of Mibelli)
AD
TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date
INHERITANCE
Porokeratosis 2
(porokeratosis palmaris et plantaris disseminata)
AD
TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date
INHERITANCE
Porokeratosis 3
(disseminated superficial actinic porokeratosis 1)
AD
TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date
INHERITANCE
Porokeratosis 4
(disseminated superficial actinic porokeratosis 2)
AD
TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date
INHERITANCE
Porokeratosis 5
(disseminated superficial actinic porokeratosis 3)
AD
TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date
INHERITANCE
Porokeratosis 6
(disseminated superficial porokeratosis)
AD
TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date
INHERITANCE
Porokeratosis 7
(multiple types)
AD
TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date
INHERITANCE
Porokeratosis 8
(disseminated superficial actinic porokeratosis 4)
AD
TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date
INHERITANCE
CDAGS syndrome
(craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies, genitourinary malformations, skin eruption)
AR
TABLE 51-3
Treatment for Porokeratosis
First line TOPICAL
(2)
Photoprotection
5-Fluorouracil
TABLE 51-3
Treatment for Porokeratosis
First line SURGICAL
Cryotherapy
TABLE 51-3
Treatment for Porokeratosis
Second line TOPICAL
(4)
Calcipotriol
Imiquimod
Topical corticosteroids
Topical retinoids
TABLE 51-3
Treatment for Porokeratosis
Second line SURGICAL
CO2 laser vaporization
TABLE 51-3
Treatment for Porokeratosis
Second line SYSTEMIC
Oral retinoids
TABLE 51-3
Treatment for Porokeratosis
Third line TOPICAL
(3)
Dermabrasion
Nd:YAG laser
Grenz ray
TABLE 51-3
Treatment for Porokeratosis
Third line SURGICAL
Surgical excision
TABLE 51-4
Summary of Porokeratosis Subtypes
INHERITANCE
Porokeratosis of Mibelli
Autosomal dominant
TABLE 51-4
Summary of Porokeratosis Subtypes
INHERITANCE
Disseminated superficial actinic porokeratosis (DSAP)
Autosomal dominant
TABLE 51-4
Summary of Porokeratosis Subtypes
INHERITANCE
Disseminated superficial porokeratosis
Autosomal dominant
TABLE 51-4
Summary of Porokeratosis Subtypes
DIAGNOSIS
RISK FACTORS
Immunosuppression after organ transplantation, drugs, or infections
Disseminated superficial porokeratosis of immunosuppression
TABLE 51-4
Summary of Porokeratosis Subtypes
INHERITANCE
Linear porokeratosis
Mosaic manifestation of other porokeratosis variants
TABLE 51-4
Summary of Porokeratosis Subtypes
INHERITANCE
Porokeratosis palmaris et plantaris disseminata
Autosomal dominant
TABLE 51-4
Summary of Porokeratosis Subtypes
INHERITANCE
Punctate porokeratosis
Concomitant occurrence with other forms of porokeratosis
TABLE 51-4
Summary of Porokeratosis Subtypes
DIAGNOSIS
EPIDEMIOLOGY
Onset in infancy or childhood; male predominance
Porokeratosis of Mibelli
TABLE 51-4
Summary of Porokeratosis Subtypes
DIAGNOSIS
EPIDEMIOLOGY
Most common porokeratosis; as early as childhood; often present by third to fourth decade of life; female predominance
Disseminated superficial actinic porokeratosis (DSAP)
TABLE 51-4
Summary of Porokeratosis Subtypes
DIAGNOSIS
EPIDEMIOLOGY
Onset by third to fourth decade of life; female predominance
Disseminated superficial porokeratosis
TABLE 51-4
Summary of Porokeratosis Subtypes
DIAGNOSIS
EPIDEMIOLOGY
Dependent on exposure
Disseminated superficial porokeratosis of immunosuppression
TABLE 51-4
Summary of Porokeratosis Subtypes
DIAGNOSIS
EPIDEMIOLOGY
Uncommon; presents in early childhood
Linear porokeratosis
TABLE 51-4
Summary of Porokeratosis Subtypes
DIAGNOSIS
EPIDEMIOLOGY
Appear during adolescence or early adulthood; male predominance
Porokeratosis palmaris et plantaris disseminata
TABLE 51-4
Summary of Porokeratosis Subtypes
DIAGNOSIS
EPIDEMIOLOGY
Appears during adolescence or adulthood
Punctate porokeratosis
TABLE 51-4
Summary of Porokeratosis Subtypes
DIAGNOSIS
CLINICAL FINDINGS
Asymptomatic, small, brown to skin-colored annular papules with an annular border
Porokeratosis of Mibelli
TABLE 51-4
Summary of Porokeratosis Subtypes
DIAGNOSIS
CLINICAL FINDINGS
Uniform, small, annular, papules from 2-5 mm, with symmetrical distribution on photoexposed extremities; asymptomatic or mildly pruritic
Disseminated superficial actinic porokeratosis (DSAP)
TABLE 51-4
Summary of Porokeratosis Subtypes
DIAGNOSIS
CLINICAL FINDINGS
Similar to DSAP but with distribution to photoprotected sites
Disseminated superficial porokeratosis
TABLE 51-4
Summary of Porokeratosis Subtypes
DIAGNOSIS
CLINICAL FINDINGS
Similar to DSAP
Disseminated superficial porokeratosis of immunosuppression
TABLE 51-4
Summary of Porokeratosis Subtypes
DIAGNOSIS
CLINICAL FINDINGS
Primary manifestation dependent on particular variant, however configuration follows lines of Blaschko
Linear porokeratosis
TABLE 51-4
Summary of Porokeratosis Subtypes
DIAGNOSIS
CLINICAL FINDINGS
Small, uniform lesions appearing on palms and soles with involvement to other sites; bilateral, symmetric involvement
Porokeratosis palmaris et plantaris disseminata
TABLE 51-4
Summary of Porokeratosis Subtypes
DIAGNOSIS
CLINICAL FINDINGS
Multiple discrete punctate hyperkeratotic lesions; may aggregate to form plaques
Punctate porokeratosis
TABLE 51-4
Summary of Porokeratosis Subtypes
DIAGNOSIS
SPECIAL CONCERNS
Large lesions have malignant potential
Porokeratosis of Mibelli
TABLE 51-4
Summary of Porokeratosis Subtypes
DIAGNOSIS
SPECIAL CONCERNS
Highest potential for malignant degeneration
Linear porokeratosis