Chapter 51 - Porokeratosis Flashcards

1
Q

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

GENE

Porokeratosis 1
(porokeratosis of Mibelli)

A

PMVK

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2
Q

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

GENE

Porokeratosis 3
(disseminated superficial actinic porokeratosis 1)

A

MVK

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3
Q

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

GENE

Porokeratosis 7
(multiple types)

A

MVD

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4
Q

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

GENE

Porokeratosis 8
(disseminated superficial actinic porokeratosis 4)

A

SLC17A9

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5
Q

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

GENE

Porokeratosis 9
(multiple types)

A

FDPS

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6
Q

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)

A

?RUNX2

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7
Q

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

INHERITANCE

Porokeratosis 1
(porokeratosis of Mibelli)

A

AD

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8
Q

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

INHERITANCE

Porokeratosis 2
(porokeratosis palmaris et plantaris disseminata)

A

AD

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9
Q

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

INHERITANCE

Porokeratosis 3
(disseminated superficial actinic porokeratosis 1)

A

AD

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10
Q

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

INHERITANCE

Porokeratosis 4
(disseminated superficial actinic porokeratosis 2)

A

AD

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11
Q

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

INHERITANCE

Porokeratosis 5
(disseminated superficial actinic porokeratosis 3)

A

AD

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12
Q

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

INHERITANCE

Porokeratosis 6
(disseminated superficial porokeratosis)

A

AD

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13
Q

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

INHERITANCE

Porokeratosis 7
(multiple types)

A

AD

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14
Q

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

INHERITANCE

Porokeratosis 8
(disseminated superficial actinic porokeratosis 4)

A

AD

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15
Q

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)

A

AR

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16
Q

TABLE 51-3
Treatment for Porokeratosis

First line TOPICAL
(2)

A

Photoprotection
5-Fluorouracil

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17
Q

TABLE 51-3
Treatment for Porokeratosis

First line SURGICAL

A

Cryotherapy

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18
Q

TABLE 51-3
Treatment for Porokeratosis

Second line TOPICAL
(4)

A

Calcipotriol
Imiquimod
Topical corticosteroids
Topical retinoids

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19
Q

TABLE 51-3
Treatment for Porokeratosis

Second line SURGICAL

A

CO2 laser vaporization

20
Q

TABLE 51-3
Treatment for Porokeratosis

Second line SYSTEMIC

A

Oral retinoids

21
Q

TABLE 51-3
Treatment for Porokeratosis

Third line TOPICAL
(3)

A

Dermabrasion
Nd:YAG laser
Grenz ray

22
Q

TABLE 51-3
Treatment for Porokeratosis

Third line SURGICAL

A

Surgical excision

23
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

INHERITANCE

Porokeratosis of Mibelli

A

Autosomal dominant

24
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

INHERITANCE

Disseminated superficial actinic porokeratosis (DSAP)

A

Autosomal dominant

25
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

INHERITANCE

Disseminated superficial porokeratosis

A

Autosomal dominant

26
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

DIAGNOSIS

RISK FACTORS
Immunosuppression after organ transplantation, drugs, or infections

A

Disseminated superficial porokeratosis of immunosuppression

27
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

INHERITANCE
Linear porokeratosis

A

Mosaic manifestation of other porokeratosis variants

28
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

INHERITANCE
Porokeratosis palmaris et plantaris disseminata

A

Autosomal dominant

29
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

INHERITANCE
Punctate porokeratosis

A

Concomitant occurrence with other forms of porokeratosis

30
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

DIAGNOSIS

EPIDEMIOLOGY
Onset in infancy or childhood; male predominance

A

Porokeratosis of Mibelli

31
Q

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

A

Disseminated superficial actinic porokeratosis (DSAP)

32
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

DIAGNOSIS

EPIDEMIOLOGY
Onset by third to fourth decade of life; female predominance

A

Disseminated superficial porokeratosis

33
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

DIAGNOSIS

EPIDEMIOLOGY
Dependent on exposure

A

Disseminated superficial porokeratosis of immunosuppression

34
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

DIAGNOSIS

EPIDEMIOLOGY
Uncommon; presents in early childhood

A

Linear porokeratosis

35
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

DIAGNOSIS

EPIDEMIOLOGY
Appear during adolescence or early adulthood; male predominance

A

Porokeratosis palmaris et plantaris disseminata

36
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

DIAGNOSIS

EPIDEMIOLOGY
Appears during adolescence or adulthood

A

Punctate porokeratosis

37
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

DIAGNOSIS

CLINICAL FINDINGS
Asymptomatic, small, brown to skin-colored annular papules with an annular border

A

Porokeratosis of Mibelli

38
Q

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

A

Disseminated superficial actinic porokeratosis (DSAP)

39
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

DIAGNOSIS

CLINICAL FINDINGS
Similar to DSAP but with distribution to photoprotected sites

A

Disseminated superficial porokeratosis

40
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

DIAGNOSIS

CLINICAL FINDINGS
Similar to DSAP

A

Disseminated superficial porokeratosis of immunosuppression

41
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

DIAGNOSIS

CLINICAL FINDINGS
Primary manifestation dependent on particular variant, however configuration follows lines of Blaschko

A

Linear porokeratosis

42
Q

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

A

Porokeratosis palmaris et plantaris disseminata

43
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

DIAGNOSIS

CLINICAL FINDINGS
Multiple discrete punctate hyperkeratotic lesions; may aggregate to form plaques

A

Punctate porokeratosis

44
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

DIAGNOSIS

SPECIAL CONCERNS
Large lesions have malignant potential

A

Porokeratosis of Mibelli

45
Q

TABLE 51-4
Summary of Porokeratosis Subtypes

DIAGNOSIS

SPECIAL CONCERNS
Highest potential for malignant degeneration

A

Linear porokeratosis