Chapter 51 - Porokeratosis

Question 1

TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date

GENE

Porokeratosis 1
(porokeratosis of Mibelli)

Answer 1

PMVK

Question 2

TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date

GENE

Porokeratosis 3
(disseminated superficial actinic porokeratosis 1)

Answer 2

MVK

Question 3

TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date

GENE

Porokeratosis 7
(multiple types)

Answer 3

MVD

Question 4

TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date

GENE

Porokeratosis 8
(disseminated superficial actinic porokeratosis 4)

Answer 4

SLC17A9

Question 5

TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date

GENE

Porokeratosis 9
(multiple types)

Answer 5

FDPS

Question 6

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)

Answer 6

?RUNX2

Question 7

TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date

INHERITANCE

Porokeratosis 1
(porokeratosis of Mibelli)

Answer 7

AD

Question 8

TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date

INHERITANCE

Porokeratosis 2
(porokeratosis palmaris et plantaris disseminata)

Answer 8

AD

Question 9

TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date

INHERITANCE

Porokeratosis 3
(disseminated superficial actinic porokeratosis 1)

Answer 9

AD

Question 10

TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date

INHERITANCE

Porokeratosis 4
(disseminated superficial actinic porokeratosis 2)

Answer 10

AD

Question 11

TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date

INHERITANCE

Porokeratosis 5
(disseminated superficial actinic porokeratosis 3)

Answer 11

AD

Question 12

TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date

INHERITANCE

Porokeratosis 6
(disseminated superficial porokeratosis)

Answer 12

AD

Question 13

TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date

INHERITANCE

Porokeratosis 7
(multiple types)

Answer 13

AD

Question 14

TABLE 51-1
Clinical Variants of Porokeratosis and Genes and Genetic Loci Identified to Date

INHERITANCE

Porokeratosis 8
(disseminated superficial actinic porokeratosis 4)

Answer 14

AD

Question 15

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)

Answer 15

AR

Question 16

TABLE 51-3
Treatment for Porokeratosis

First line TOPICAL
(2)

Answer 16

Photoprotection
5-Fluorouracil

Question 17

TABLE 51-3
Treatment for Porokeratosis

First line SURGICAL

Answer 17

Cryotherapy

Question 18

TABLE 51-3
Treatment for Porokeratosis

Second line TOPICAL
(4)

Answer 18

Calcipotriol
Imiquimod
Topical corticosteroids
Topical retinoids

Question 19

TABLE 51-3
Treatment for Porokeratosis

Second line SURGICAL

Answer 19

CO2 laser vaporization

Question 20

TABLE 51-3
Treatment for Porokeratosis

Second line SYSTEMIC

Answer 20

Oral retinoids

Question 21

TABLE 51-3
Treatment for Porokeratosis

Third line TOPICAL
(3)

Answer 21

Dermabrasion
Nd:YAG laser
Grenz ray

Question 22

TABLE 51-3
Treatment for Porokeratosis

Third line SURGICAL

Answer 22

Surgical excision

Question 23

TABLE 51-4
Summary of Porokeratosis Subtypes

INHERITANCE

Porokeratosis of Mibelli

Answer 23

Autosomal dominant

Question 24

TABLE 51-4
Summary of Porokeratosis Subtypes

INHERITANCE

Disseminated superficial actinic porokeratosis (DSAP)

Answer 24

Autosomal dominant

Question 25

TABLE 51-4 Summary of Porokeratosis Subtypes INHERITANCE Disseminated superficial porokeratosis

Answer 25

Autosomal dominant

Question 26

TABLE 51-4 Summary of Porokeratosis Subtypes DIAGNOSIS RISK FACTORS Immunosuppression after organ transplantation, drugs, or infections

Answer 26

Disseminated superficial porokeratosis of immunosuppression

Question 27

TABLE 51-4 Summary of Porokeratosis Subtypes INHERITANCE Linear porokeratosis

Answer 27

Mosaic manifestation of other porokeratosis variants

Question 28

TABLE 51-4 Summary of Porokeratosis Subtypes INHERITANCE Porokeratosis palmaris et plantaris disseminata

Answer 28

Autosomal dominant

Question 29

TABLE 51-4 Summary of Porokeratosis Subtypes INHERITANCE Punctate porokeratosis

Answer 29

Concomitant occurrence with other forms of porokeratosis

Question 30

TABLE 51-4 Summary of Porokeratosis Subtypes DIAGNOSIS EPIDEMIOLOGY Onset in infancy or childhood; male predominance

Answer 30

Porokeratosis of Mibelli

Question 31

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

Answer 31

Disseminated superficial actinic porokeratosis (DSAP)

Question 32

TABLE 51-4 Summary of Porokeratosis Subtypes DIAGNOSIS EPIDEMIOLOGY Onset by third to fourth decade of life; female predominance

Answer 32

Disseminated superficial porokeratosis

Question 33

TABLE 51-4 Summary of Porokeratosis Subtypes DIAGNOSIS EPIDEMIOLOGY Dependent on exposure

Answer 33

Disseminated superficial porokeratosis of immunosuppression

Question 34

TABLE 51-4 Summary of Porokeratosis Subtypes DIAGNOSIS EPIDEMIOLOGY Uncommon; presents in early childhood

Answer 34

Linear porokeratosis

Question 35

TABLE 51-4 Summary of Porokeratosis Subtypes DIAGNOSIS EPIDEMIOLOGY Appear during adolescence or early adulthood; male predominance

Answer 35

Porokeratosis palmaris et plantaris disseminata

Question 36

TABLE 51-4 Summary of Porokeratosis Subtypes DIAGNOSIS EPIDEMIOLOGY Appears during adolescence or adulthood

Answer 36

Punctate porokeratosis

Question 37

TABLE 51-4 Summary of Porokeratosis Subtypes DIAGNOSIS CLINICAL FINDINGS Asymptomatic, small, brown to skin-colored annular papules with an annular border

Answer 37

Porokeratosis of Mibelli

Question 38

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

Answer 38

Disseminated superficial actinic porokeratosis (DSAP)

Question 39

TABLE 51-4 Summary of Porokeratosis Subtypes DIAGNOSIS CLINICAL FINDINGS Similar to DSAP but with distribution to photoprotected sites

Answer 39

Disseminated superficial porokeratosis

Question 40

TABLE 51-4 Summary of Porokeratosis Subtypes DIAGNOSIS CLINICAL FINDINGS Similar to DSAP

Answer 40

Disseminated superficial porokeratosis of immunosuppression

Question 41

TABLE 51-4 Summary of Porokeratosis Subtypes DIAGNOSIS CLINICAL FINDINGS Primary manifestation dependent on particular variant, however configuration follows lines of Blaschko

Answer 41

Linear porokeratosis

Question 42

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

Answer 42

Porokeratosis palmaris et plantaris disseminata

Question 43

TABLE 51-4 Summary of Porokeratosis Subtypes DIAGNOSIS CLINICAL FINDINGS Multiple discrete punctate hyperkeratotic lesions; may aggregate to form plaques

Answer 43

Punctate porokeratosis

Question 44

TABLE 51-4 Summary of Porokeratosis Subtypes DIAGNOSIS SPECIAL CONCERNS Large lesions have malignant potential

Answer 44

Porokeratosis of Mibelli

Question 45

TABLE 51-4 Summary of Porokeratosis Subtypes DIAGNOSIS SPECIAL CONCERNS Highest potential for malignant degeneration

Answer 45

Linear porokeratosis