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Dermatology > Sec 7 Disorders of Epidermal Differentiation and Keratinization > Flashcards

Sec 7 Disorders of Epidermal Differentiation and Keratinization Flashcards

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1
Q

How many percent of contact dermatitis is irritant?

A

80%

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2
Q

Most important exogenous factor for ICD

A

Inherent toxicity of chemical for human skin

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3
Q

Major risk factor for irritant hand dermatitis because of impaired barrier function and lower threshold for skin irritation

A

Atopic dermatitis

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4
Q

Mainstay of treatment for ICD

A

Identification and avoidance of potential irritant

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5
Q

Mechanisms of ICD:

A
  1. Removal of surface lipids and water-holding substances
  2. Damage to cell membranes
  3. Epidermal keratin denaturation
  4. Direct cytotoxic effects
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6
Q

Key cytokine in ICD leading to increased expression of major histocompatibility complex class II and intracellular adhesion molecule 1 on keratinocytes

A

Tumor Necrosis Alpha-1 (TNA-1)

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7
Q

Hones naive T-lymphocytes to the skin and is elevated during irritant reactions

A

CCL21

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8
Q

Upregulation of this plays a major role in the hardening phenomenon in cutaneous irritation

A

Ceramide 1 synthesis

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9
Q

Exogenous factors influencing cutaneous reaction

A
  1. Chemical properties 2. Characteristics of exposure 3. Environmental factors 4. Mechanical factors 5. UV radiation
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10
Q

A synergistic or antagonistic effect that occurs as a consequence of specific cellular interactions between compounds that would not occur when irritant is used alone

A

Crossover phenomenon

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11
Q

T or F: Visible skin irritation (erythema) is decreased in older persons while invisible skin irritation (barrier damage) is increased in elderly

A

True

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12
Q

Endogenous factors influencing cutaneous reaction

A
  1. Primary sensitive skin 2. Lack of hardening 3. Atopic dermatitis 4. Skin site 5. Skin permeability 6. Secondary hyperirritability of the skin (status eczematicus) 7. Individual (genetic) susceptibility
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13
Q

Sites more susceptible to ICD

A

Face Neck Scrotum Dorsal hands

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14
Q

T or F: A history of atopy is a well-known risk factor for ICD

A

True

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15
Q

Clinically presents as an acute, often multiple monomorphic reaction that includes scaling, low-grade erythema, vesicles or erosions usually on the dorsum of hands and finger

A

Irritant reaction

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16
Q

Results from a single skin exposure to a strong irritant or caustic chemical with sensation of burning, itching or stinging; heals after 4 weeks with good prognosis

A

Acute ICD

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17
Q

Acute reaction but without visible signs of inflammation until 8-24 hours or more after exposure; good prognosis

A

Delayed acute irritancy

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18
Q

Most frequent type of contact dermatitis in clinical practice; aka traumiterative ICD; with symptoms appearing after days, month or years; prognosis variable

A

Chronic cummulative ICD

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19
Q

Patients complain of itching, tingling, stinging, burning within minutes of contact with an irritant without visible cutaneous changes; usually on face, head and neck

A

Subjective irritancy

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20
Q

Irritation is not visually apparent but histologically apparent; common in use of surfactant

A

Suberythematous irritation

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21
Q

Mechanical irritation from repeated microtrauma and friction; usually leads to dry, hyperkeratotic abraded skin

A

Frictional dermatitis

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22
Q

Develop after acute skin trauma as burns or lacerations; most commonly on the hands; can persist for about 6 weeks or more; resembles nummular dermatitis

A

Traumatic dermatitis

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23
Q

Usually seen after exposure to oils, tars, heavy metals and halogens but also after use of cosmetics; pustules are sterile; seen is atopic and seborrheic patients

A

Pustular or acneiform reactions

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24
Q

Characterized by intense itching, dry skin and ichthyosiform scaling

A

Asteatotic irritant reaction

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25
Q

Most common irritants

A

Soaps Detergents Waterless cleansers

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26
Q

Most frequently used procedure to quantify impaired functions of the stratum corneum

A

TEWL measurement

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27
Q

Novel approach to detect ICD susceptibility

A

TNF-a gene polymorphism

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28
Q

Hallmarks of ICD

A

Stratum corneum disruption Hyperproliferation Epidermal necrosis

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29
Q

Facilitates the differentiation of acute ACD from ICD

A

Reflectance-mode confocal microscopy

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30
Q

Irritant patch test results

A

Erythema +/- papules confined to test site

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31
Q

Gene-Protein: Ichthyosis Vulgaris

A

FLG - Fillagrin

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32
Q

Gene-Protein: Epidermolytic Hyperkeratosis

A

KRT1, KRT10; KRT9 (Vorner type) - Keratin 1 or 10

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33
Q

Gene-Protein: Ichthyosis bullosa of Siemens

A

KRT2 - Keratin 2

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34
Q

Gene-Protein: Ichthyosis hystrix of Curth and Macklin

A

KRT1 - Keratin 1

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35
Q

Gene-Protein: Annular epidermolytic erythema

A

KRT1, KRT10 - Keratin 1 or 10

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36
Q

Gene-Protein: Erythrokeratodermia variabilis

A

GJB3 or GJB4 - Connexin 31 or 30.3

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37
Q

Gene-Protein: Progressive symmetric erythrokeratodermia

A

LOR or GJB4 - Connexin 30.3

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38
Q

Gene-Protein: Keratitis-Ichthyosis-Deafness

A

GJB2, GJB6 - Connexin 26, 30

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39
Q

Gene-Protein: X-linked Recessive Ichthyosis

A

STS - Steroid Sulfatase

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40
Q

Gene-Protein: Chondrodysplasia punctata X-linked recessive

A

ARSE - Arylsulfatase E

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41
Q

Gene-Protein: X-linked dominant Chondrodysplasia punctata (Conradi-Hunermann-Happle syndrome)

A

EBP - Emapomil Binding Protein

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42
Q

Gene-Protein: CHILD syndrome

A

NSDHL; EBP - 3-B-hydroxysteroid-isomerase

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43
Q

Gene-Protein: Harlequin Ichthyosis

A

ABCA12 - ATP-binding cassette subfamily A, member 12

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44
Q

Gene-Protein: Ichthyosis prematurity syndrome

A

FATP4 - Fatty acid transport protein 4

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45
Q

Gene-Protein: Netherton syndrome

A

SPINK5 - LEKT1

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46
Q

Gene-Protein: Sjogren-Larsson syndrome

A

FALDH (ALDH10, ADH3A2) - Fatty aldehyde dehydrogenase

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47
Q

Gene-Protein: Refsum disease

A

PAHX - Phytanoyl-CoA hydroxylase PEX7

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48
Q

Gene-Protein: Trichothiodystrophy

A

ERCC2 - (XPD) ERCC3 - (XPB), TTDA, TTDN1

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49
Q

Gene: Chanarin-Dorfman syndrome (neutral lipid storage disease)

A

CGI-58

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50
Q

Gene-Protein: Neonatal ichthyosis-sclerosing cholangitis

A

CLDN1 - Claudin 1

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51
Q

Gene-Protein: Multiple sulfatase deficiency

A

SUMF1 - C-formylglycine generating enzyme

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52
Q

Gene-Protein: Peeling Skin Syndrome Type A

A

TGM5 - Transglutaminase 5

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53
Q

Ichthyosis - Structural proteins

A

Transglutaminase 1 Filaggrin Keratins Loricrin

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54
Q

Ichthyosis - Intercellular junctions

A

Plakoglobin Claudin 1 Desmoplakin Desmoglein

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55
Q

Ichthyosis - Lipid metabolism

A

Hepoxilin pathway Lamellar granule maturation and secretion Steroid dehydrogenase Sterol isomerase Steroid sulfatase Fatty acid transport Fatty aldehyde and fatty acid metabolism Phytanic acid catabolism

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56
Q

Ichthyosis - Intercellular communication

A

Gap junction protein: Connexins

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57
Q

Ichthyosis - Protein metabolism

A

Proteosome Protein trafficking by intracellular vesicles Protease inhibitor Protease

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58
Q

Ichthyosis - Calcium homeostasis

A

Ca++ dependent ATPase

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59
Q

ARCI - Cornified envelope formation

A

TGM1 Tranglutaminase 1

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60
Q

ARCI - Membrane transport/lipid metabolism

A

ABCA12 ATP-binding cassette, subfamily A, member 12

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61
Q

ARCI - Hydroperoxide isomerase

A

ALOXE3 Arachidonate lipoxygenase (eLOX3)

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62
Q

ARCI - Lipoxygenase

A

ALOX12B Arachidonate 12-lipoxygenase, R type

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63
Q

ARCI - Trioxilin A3 receptor or Hepoxylin pathway

A

Ichthyin

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64
Q

ARCI - LTB-w-hydroxylase

A

FLJ39501 (CYP4F22) Cytochrome P450, family 4, subfamily F, polypeptide 2

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65
Q

Disorders associated with Collodion Membrane

A

AEC syndrome Autosomal recessive congential ichthyosis Chondrodysplasia punctata Gaucher disease Loricrin keratoderma Neutral lipid storage disease Self-healing collodion baby Sjogren-Larsson syndrome Trichothiodystrophy X-linked hypohydrotic ectodermal dysplasia

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66
Q

Histopathologic feature that corresponds to the raised hyperkeratotic border

A

Cornoid lamella

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67
Q

Type of Porokeratosis that presents as asymptomatic brown to skin-colored papules with a characteristic annular border; has longitudinal furrow; usually localized and unilateral

A

Porokeratosis of Mibelli

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68
Q

Most common porokeratosis

A

Disseminated superficial actinic porokeratosis

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69
Q

Type of Porokeratosis that presents with uniformly small annular asymptomatic or mildy pruritic papules typically more than 50 distributed symmetrically on the extremities predominantly on sun-exposed areas; autosomal dominant

A

Disseminated superficial actinic porokeratosis

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70
Q

Type of Porokeratosis with AD inheritance, onset at 3rd-4th decades, presents with uniformly small annular asymptomatic or mildy pruritic papules distributed symmetrically on the extremities but do not spare sun protected areas

A

Disseminated superficial porokeratosis

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71
Q

Type of Porokeratosis recognized after transplantation, irradiation, chemotherapy, use of systemic steroids; malignancies; HIV infection

A

Disseminated superficial porokeratosis of immunosuppression

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72
Q

Porokeratosis with highest potential for malignant degeneration

A

Linear porokeratosis

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73
Q

Type of Porokeratosis that may either present as unilateral lesion confined to an extremity following Blashko’s lines or a generalized form with multiple lesions affecting extremities and the trunk

A

Linear porokeratosis

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74
Q

Type of Porokeratosis with AD inheritance onset at adolescence, more common in males, presenting with small uniform lesions initially on palms and soles spreading to involve other parts of the body

A

Porokeratosis palmaris et plantaris disseminata

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75
Q

Type of Porokeratosis that may be seen concomitantly with other types; presenting with multiple minute and discrete punctate, hyperkeratotic lesions surrounded by a thin, raised margin on palms and soles

A

Punctate porokeratosis

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76
Q

CAP syndrome - AD

A

Craniosynosthosis Anal anomalies Porokeratosis

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77
Q

CDAGS syndrome - AD

A

Craniosynosthosis and clavicular hypoplasia Delayed closure of the fontanel Anal anomalies Genitourinary malformations Skin eruption

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78
Q

Associated tumors with Porokeratosis

A

Squamous cell carcinoma Bowen disease Basal cell carcinoma

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79
Q

First line therapy: Porokeratosis

A

Photoprotection 5-Fluorouracil Cryotheraphy

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80
Q

Second line therapy: Porokeratosis

A

Calcipotriol Imiquimoid Topical corticosteroids Topical retinoids CO2 laser vaporization

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81
Q

Enzyme that catalyzes the cross-linking of proteins and attachment of ceramides during the formation of corneocytes found in 55% of ARCI

A

Transglutaminase-1

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82
Q

Controls the hydrolysis of cholesterol sulfate in corneocytes and important in the regulation of corneocyte desquamation

A

Steroid sulfatase

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83
Q

Encodes serin protease inhibitor LEKTI and has role for proteolysis and protease inhibitors in normal epidermal differentiation

A

SPINK5

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84
Q

Most common ichthyosis

A

Ichthyosis Vulgaris

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85
Q

AD inherited disease that manifests within first year with fine, white scales most prominent on the extensor surfaces and flexural sparing. Associated with hyperlinear palms, palmar/plantar thickening, keratosis pilaris and atopy. Worsens in dry cool and improve with hot, humid conditions.

A

Ichthyosis Vulgaris

86
Q

Involved in the aggregation of keratin filaments that form a network or cell matrix

A

Fillagrin

87
Q

Low maternal urinary estrogens

A

Steroid sulfatase deficiency

88
Q

X-linked recessive seen usually begins in newborn period and most prominent on extensors, more severe involvement associated with comma-shaped corneal opacities. With increased risk for crytochordism and testicular cancer

A

X-linked Ichthyosis

89
Q

Compact orthohyperkeratosis, acanthosis, papillomatosis with accentuated granular layer

A

X-linked Ichthyosis

90
Q

Heterogenous group of disorders that present at birth with generalized involvement of the skin

A

Autosomal recessive congenital ichthyosis

91
Q

Apparent at birth with collodion membrane. Presents with large, dark plate-like scales, infants may be red at birth but adults have little to no erythroderma. There is tautness of skin leading to ectropion, eclabium and scarring alopecia at the periphery of the scalp. With heat intolerance.

A

Lamellar ichthyosis

92
Q

Apparent at birth with taut collodion membrane, presents with general redness with fine white scales

A

Congenital ichthyosiform erythroderma

93
Q

Involved in the formation of stratum corneum. Attaches ceramides secreted into the intercellular space by lamellar bodies to cornified envelope proteins.

A

Transglutaminase 1

94
Q

Unusual form of Lamellar ichthyosis where there are large, dark plate-like scales but limited to the bathing suit area

A

Bathing suit ichthyosis

95
Q

Thickened stratum cornuem with vacuolar degeneration of the epidermis and suprabasilar keratinocytes with keratohyaline granular cells that are dense, enlarged irregular shaped masses.

A

Epidermolytic hyperkeratosis

96
Q

Presents at birth with blistering redness and peeling then generalized hyperkeratosis develops. Has a characteristic pungent odor.

A

Epidermolytic hyperkeratosis

97
Q

EHK (-) palm and soles normal palm/sole surface no digital contractures hystrix - porcupine-like spiny papules generalized distribution no erythroderma with blistering KRT10

A

NPS-1

98
Q

EHK (-) palm and soles normal palm/sole surface no digital contractures brown scales generalized distribution no erythroderma with blistering KRT10

A

NPS-2

99
Q

EHK (-) palm and soles hyperlinear palm/sole surface no digital contractures fine, white scales generalized distribution with erythroderma with blistering KRT10

A

NPS-3

100
Q

EHK (+) palm and soles smooth palm/sole surface no digital contractures mild scales localized distribution - trunk no erythroderma localized blistering KRT1

A

PS-1

101
Q

EHK (+) palm and soles smooth palm/sole surface with contractures - volar; ainhum-like white scales to peeling generalized distribution with erythroderma with blistering KRT1

A

PS-2

102
Q

EHK (+) palm and soles pebbly, cerebriform palm/sole surface no digital contractures tan scales generalized distribution no erythroderma neonatal blistering KRT1

A

PS-3

103
Q

EHK limited exclusively to the palms and soles involving only Keratin 9

A

Vorner type

104
Q

Rare autosomal dominant genodermatosis born with redness and blistering which subsides over next weeks to month and develops dark gray hyperkeratosis. Epidermis is fragile resulting to a collarette-like depressed area described as mauserung (molting)

A

Ichthyosis Bullosa of Siemens

105
Q

Rare autosomal dominant genodermatosis with widespread patchy, thick, gray-brown hyperkeratosis most marked on extensors of arms and legs

A

Ichthyosis Hystrix of Curth and Macklin

106
Q

Presents at birth or in first months with severe, intermittent scaling and blisters that resolves during puberty with residual limited thickened plaques of verrucous scale in linear rows seen in flexural and intertriginous skin. Then develops widespread, migratory, polycyclic and annular scaling plaques.

A

Annular epidermolytic erythema

107
Q

Born enclosed in a translucent parchment-like membrane that is taut with impaired sucking and respiration. Birth is often premature.

A

Collodion baby

108
Q

Often with premature birth, presents with massive, shiny plates of stratum corneum separated by deep red fissure that form geometric pattern with underdeveloped ears with ectropion and eclabium.

A

Harlequin ichthyosis

109
Q

Rare autosomal recessive disorder characterized by ichthyosis, structural hair shaft abnormality and atopy (with marked IgE elevation).

A

Netherton syndrome

110
Q

Usual skin manifestation of Netherton syndrom

A

Ichthyosis linearis circumflexa - generalized hyperkeratosis and polycyclic and serpiginous erythematous plaques with migratory double-edged scale at the margins

111
Q

Hair shaft abnormality in Netherton syndrome which is the telescoping of the distal segment into the proximal segment

A

Trichorrhexis invaginata or “bamboo hair”

112
Q

ARC syndrome

A

Arthrogryphosis Renal tubular dysfunction Cholestasis

113
Q

CEDNIK syndrome

A

CErebral Dysgenesis Neuropathy Ichthyosis Keratoderma

114
Q

Lamellar granules are retained within the cornified layer resulting in reduced secretion of lipids and proteases into extracellular space results in impaired barrier function and decreased corneocyte disadhesion

A

CEDNIK syndrome

115
Q

Autosomal recessive neutral lipid storage disease disorder wth accumulation of triglycerides in the cytoplasm. Presents with generalized fine scaling with variable erythema; with ectropion and eclabium

A

Chanarin-Dorfman Syndrome

116
Q

CHILD syndrome

A

Congenital Hemidysplasia Ichthyosiform erythroderma Limb Defects

117
Q

Present with skin and skeletal abnormalities but with sharp midline demarcation with right more commonly involved and ipsilateral involvement of the limb defects (digital hypoplasia to agenesis of extremity)

A

X-linked dominant chondrodysplasia punctata

118
Q

AKA Peroxisomal biogenesis disorder complementation group 11 (CG11)

A

Rhizomelic chondrodysplasia punctata

119
Q

Rare, multisystem disorder characterized by dwarfism due to symmetric shortening of proximal long bones, joint contractures, congenital cataracts, ichthyosis, and severe MR.

A

Rhizomelic chondrodysplasia punctata

120
Q

Radiologic abnormalities in Rhizomelic chondrodysplasia punctata

A

Presence of stippled calcifications of cartilage Vertebral body clefting

121
Q

Involve skin with linear or whorled ichthyosis, hair with coarse lackluster cicatricial alopecia, short stature, skelatal abnormalities, cataracts and deafness

A

X-linked recessive chondrodysplasia punctata

122
Q

AKA Conradi-Hunnermann-Happle syndrome

A

X-linked dominant chondrodysplasia punctata

123
Q

Exclusive in females, lethal to males; Presents at birth as congenital ichthyosiform erythroderma that clear over months replaced by linear hyperkeratosis, follicular atrophoderma, and pigmentary abnormalities. Also with hair shaft abnormalities, stippled calicifications in Xray, short stature, asymmetric shortening of the legs, and cataracts.

A

X-linked dominant chondrodysplasia punctata

124
Q

Presents as congenital ichthyosiform erthroderma with small islands of normal appearing skin beginning in late childhood

A

Congenital reticular ichthyosiform erythroderma

125
Q

Presents at birth to first year of life with generalized, persistent, red-brown, hyperkeratotic plaques with migratory red patches regressing over minutes to hours

A

Erythrokeratodermia variabilis - generalized type

126
Q

Presents at birth to first year of life with limited extent characterized by sharply demarcated, hyperkeratotic plaques symmetrically arrayed with migratory red patches regressing over minutes to hours

A

Erythrokeratodermia variabilis - localized type

127
Q

Characterized by well-demarcated erythematous hyperkeratotic plaques symmetrically distributed over the extremities, buttocks and face sparing trunk with plaques remaining stable

A

Progressive symmetric erythrokeratodermia

128
Q

IFAP syndrome

A

Ichthyosis Follicularis Alopecia (total non-scarring) Photophobia

129
Q

Results in premature delivery of infants with erythrodermic, edematous, caseous scaling skin resembling excessive caseosa, respiratory distress and transient peripheral eosinophilia.

A

Ichthyosiform prematurity syndrome

130
Q

KID syndrome

A

Keratitis (progressive corneal opacity) Ichthyosis (discrete symmetric hyperkeratosis) Deafness (neurosensory)

131
Q

KLICK syndrome

A

Keratosis Linearis Ichthyosis Congenita (sclerosing) Keratoderma

132
Q

Rare AD ichthyosis with palmoplantar keratoderma, constricting bands, and flexural deformities of fingers and linear (striate) keratotic papules at flexures due to defect in POMP

A

KLICK syndrome

133
Q

MEDNIK syndrome

A

Mental retardation Enteropathy Deafness (peripheral) Neuropathy Ichthyosis Keratodermia

134
Q

Rare AR disorder characterized neurologic deterioration, skeletal abnormalities, facial dysmorphism, and ichthyosis

A

Multiple sulfatase deficiency

135
Q

NISCH syndrome

A

Neonatal Ichthyosis Sclerosing CHolangitis

136
Q

Presents with ichthyosis, sclerosing cholangitis, hypotrichosis with scarring alopecia and enamel dysplasia

A

NISCH syndrome

137
Q

Autosomal recessive disorder with lifelong noninflammatory generalized peeling of the skin

A

Peeling skin syndrome type A

138
Q

Autosomal recessive disorder with congenital ichthyosiform erythroderma evolving into erythematous scaling migratory patches usually pruritic

A

Peeling skin syndrome type B

139
Q

Rare AR progressive, degenerative disorder of lipid metabolism presenting with retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, cranial verce dysfunction, miosis, ECG abnormalities, cardiomyopathy, renal tubular dysfunction and skeletal abnormalities, sometimes ichthyosis

A

Refsum disease

140
Q

Poorly characterized disorder with epilepsy, mental retardation, infantilism, congenital ichthyosis and retinitis pigmentosa

A

Rud syndrome

141
Q

Rare autosomal recessive disease with congenital ichthyosis, spastic paralysis and mental retardation

A

Sjogren-Larsson syndrome

142
Q

Microsomal enzyme that catalyzes oxidation of fatty alcohol to fatty aldehyde and subsequently to fatty acid; important in for normal desquamation

A

FALDH

143
Q

Autosomal recessive disorder with sulfur deficient brittle hair exhibiting tiger tail banding, photosensitivity, ichthyosis, intellectual impairment, short stature, microcephaly, recurrent infections, cataracts, dystrophic nails

A

Trichothiodystrophy

144
Q

PIBIDS

A

Photosensitivity Ichthyosis Brittle hair Intellectual impairment Decreased fertility Short stature

145
Q

Most common malignancy associated with acquired ichthyosis

A

Hodgkin disease

146
Q

Acquired ichthyosis in HIV patients was found with coinfection with what virus

A

Human T cell leukemia (HTLV)

147
Q

T or F: Acquired ichthyosis may be a marker for autoimmune disease

A

True

148
Q

Acquired, sharply demarcated round to oval scaly patches with hypo- or hyperpigmentation

A

Pityriasis rotunda

149
Q

Uncommon acuired ichthyosiform dematosis in young adults localized on neck, upper trunk and axillae.

A

Confluent and reticulated papillomatosis of Gougerout and Carteud

150
Q

First line treatment for Confluent and reticulated papillomatosis of Gougerout and Carteud

A

Minocycline

151
Q

Gene-Protein: Epidermolytic PPK

A

KRT9 - Keratin 9

152
Q

Gene-Protein: Transgredient epidermolytic PPK

A

KRT1 - Keratin 1

153
Q

Gene-Protein: Diffuse NEPPK (Unna-Throst)

A

KRT1 - Keratin 1

154
Q

Gene-Protein: Ichthyosis hystrix

A

KRT1 - Keratin 1

155
Q

Gene-Protein: Focal NEPPK

A

KRT6c, KRT16 - Keratin 6c, 16

156
Q

Gene-Protein: Pachyonychia congenita type 1

A

KRT6a, KRT16 - Keratin 6a, 16

157
Q

Gene-Protein: Pachyonychia congenita type 2

A

KRT6b, KRT17 - Keratin 6b, 17

158
Q

Gene-Protein: Ectodermal dysplasia/Skin fragility syndrome

A

PKP1 - Plakophilin 1

159
Q

Gene-Protein: Striate PPK

A

DSG1, DSP, KRT1 - Desmoglein 1, Desmoplakin 1, Kertain 1

160
Q

Gene-Protein: Keratoderma with cardiomyopathy and wooly hair (Carvajal-Huerta)

A

DSP - Desmoplakin 1

161
Q

Gene-Protein: Keratoderma with ARVC and wooly hair (Naxos)

A

JUP - Plakoglobin

162
Q

Gene-Protein: Keratoderma with hearing loss (Vohwinkel, Bart-Pumphrey)

A

GJB2, GJB6 - Connexin 26, 30

163
Q

Gene-Protein: Keratitis/Hystrix, Ichthyosis, Deafness

A

GJB2 - Connexin 26

164
Q

Gene-Protein: Hidrotic ectodermal dysplasia (Clouston)

A

GJB6 - Connexin 30

165
Q

Gene-Protein: Oculo-dental-digital dysplasia

A

GJA1 - Connexin 43

166
Q

Gene-Protein: Mitochondrial keratoderma with hearing loss

A

MSST1 - Serine transfer RNA

167
Q

Gene-Protein: Loricrin keratoderma

A

LOR - Loricrin (insertion mutation)

168
Q

Gene-Protein: Keratoderma and periodontitis (Papillon-Leferve and Haim-Munk)

A

CTSC - Cathepsin C

169
Q

Gene-Protein: Mal de meleda

A

ARSB - SLURP-1

170
Q

Gene-Protein: Tylosis with oesophageal carcinoma (Howel-Evans)

A

RHBDF2 - inhibitor of active rhomboid protease

171
Q

Gene-Protein: Odonto-onycho-dermal dysplasia (Schopf-Schultz-Passarge syndrome)

A

WNT10a - Signaling molecule implicated in development

172
Q

Gene-Protein: Tyrosinemia type 2 (Richner-Hanhart)

A

TYR1 - Tyrosinase

173
Q

Gene-Protein: KLICK

A

POMP - Protease maturation protein

174
Q

Gene-Protein: CEDNIK

A

SNAP29 - SNARE protein involved in vesicular fusion

175
Q

Gene-Protein: MEDNIK

A

AP1S1 - Subunit of O1A of adaptor protein-1 complex

176
Q

Keratoderma associated with carcinoma

A

Huriez syndrome Olmstead syndrome

177
Q

Inherited as AD presents in adults as multiple keratinizing papules varying from few millimeters to tiny filiform lesions (music box keratoderma)

A

Punctate Keratoderma Buscke-Fisher-Brauer syndrome

178
Q

Most common palmoplantar keratoderma

A

Epidermolytic Keratoderma

179
Q

AD disorder due to defects in Keratin 9 presents in childhood as diffuse PPK with sharp, livid transition to normal skin at edge of palms and soles, in severe cases there’s blistering and fissuring

A

Epidermolytic Keratoderma

180
Q

Restricted to palmoplantar skin due to defect in Keratin 1

A

Nonepidermolytic Palmoplantar Keratoderma

181
Q

Due to mutation in Keratin 16 and may complicate PPK on feet or occur in isolation; Early onset leads to disability as to become wheelchair bound; Associated with nail dystrophy and mucosal features

A

Focal PPK

182
Q

Painful focal PPK is seen in

A

Tyrosinemia type II

183
Q

AD inherited distinct variant of focal PPK with prominent linear involvement of the volar surfaces of the digits with happloinsufficiency of desmoglein 1, sometimes desmoplakin 1 and mutations in keratin 1

A

Striate PPK

184
Q

Variant of Vohwinkel syndrome characterized by a honeycomb pattern and transgredient keratoderma leading to circumferential digital involvement, cicatrizing bands and sometimes autoamputation; with generalized ichthyosis and generalized desquamation

A

Loricrin keratoderma Camisa syndrome

185
Q

AD disorder with diffuse PPK affecting the palmar skin associated with sclerodactyly, brachydactyly and cutaneous erythema and atrophy.

A

Huriez syndrome

186
Q

Rare AR disorder with waxy to ivory yellow transgredient hyperkeratosis which is inflamed and macerated with livid margin. With circumferential sclerosing and cicatrizing lesions of the digits.

A

Mal de Meleda

187
Q

Spectrum of dominantly inherited disorders associated with painful focal PPK and hypertrophic dystrophy of nail

A

Pachyonychia congenita

188
Q

PC type associated with follicular keratoses, oral leukokeratosis and hoarseness

A

Pachyonychia congenita-1

189
Q

Rarer PC type associated with multiple pilosebaceous cysts, teeth present at birth and hair changes such as protuberant eyebrows. With extensive and infected cysts that can present as hidradenitis suppurativa.

A

Pachyonychia congenita-2

190
Q

Spectrum of AR ectodermal dysplasia with abnormal nails, oligodontia with abnormal teeth and hypotrichosis. Also assoc with erythematous facial lesions, atrophic lingual papillae and benign adnexal tumors (apocrine hydrocystoma)

A

Odonto-onycho-dermal dysplasia (Schopf-Schultz-Passarge syndrome

191
Q

AD mutilating palmoplantar keratoderma with perioroficial plaques with diffuse, sharply demarcated and progressive keratoderma of palms and soles causing flexion deformities, constrictions, autoamputation and obliteration of digits. Usually manifests within first 6 months.

A

Olmstead syndrome

192
Q

PPK with absent dermatoglyphics, reticulate pigmentary abnormalities, hypohydrosis, and other ectodermal defects

A

Naegeli-Franceschetti-Jadassohn syndrome Dermatopathia pigmentosa reticularis

193
Q

PPK in Dowling-Meara of EBS due to mutation on FERMT1

A

Kindler syndrome

194
Q

Rare AD with thick yellow focal hyperkeratosis most prominent on pressure sites with oral leukoplakia with personal or family history of esophageal cancer

A

Howel-Evans syndrome

195
Q

Diffuse PPK and fissure hyperkeratosis with trangredient erythema and periodontitis; scaly psoriasiform lesions over knees, elbows and interphalangeal joints

A

Papillon-Lefevre syndrome

196
Q

More severe and extensive than Papillon-Lefevre syndrome with arachnodactyly, acroosteolysis, atrophic nails and pes planus

A

Haim-Munk syndrome

197
Q

AD disorder with periodontitis, acro-osteolysis and psoriasiform lesions with focal or reticular keratoderma and progressive scarring alopecia

A

HOPP syndrome

198
Q

HOPP syndrome

A

Hypotrichosis (Acro-osteolysis) Onychogryphosis Palmoplantar keratoderma Periodontitis

199
Q

AR disorder with diffuse gray-yellow fissuring but nonepidermolytic keratoderma, wooly hair, and arrhythmogenic right ventricular cardiomyopathy causing heart failure and sudden death

A

Naxos disease

200
Q

Striate keratoderma, wooly hair and dilated left ventricular cardiomyopathy with mutations in the desmoplakin gene

A

Carvajal-Huerta syndrome

201
Q

Honeycomb patterned keratoderma, starfish acral keratoses, constricting bands, autoamputation and impaired hearing

A

Vohwinkel syndrome

202
Q

AR syndromes with keratoderma and combination of neuropathy and mental retardation

A

MEDNIK syndrome CEDNIK syndrome

203
Q

Very rare AR disorder due to deficiency in tyrosine aminotransferase leading to accumulation of tyrosine, phenolic acid metabolites presenting with painful focal palmoplantar hyperkeratosis, photophobia and corneal erosions

A

Tyrosinemia type II

204
Q

Gene: Darier Disease

A

ATP2A2

205
Q

Gene: Hailey-Hailey Disease

A

ATP2C1

206
Q

Suprabasal cleft of the epidermis with acantholytic cells rounded eosinophilic in the epidermis (corps ronds) and flattened parakeratotic cells in the horny layer(grains)

A

Darier Disease

207
Q

Discrete greasy yellowish-borwn keratotic papules with predilection for seborrheic areas, foul-smelling and nail changes (first sign of disease)

A

Darier Disease

208
Q

Variant of Darier Disease which presents at birth or early childhood with asymptomatic, skin-colored flat-topped warty papules distributed symmetrically on the dorsum of hands and feet

A

Acrokeratosis Verruciformis or Acral Darier Disease

209
Q

Presents between 2nd-4th decades with crusted weeping erosions, vesicopustules, expanding annular plaques with predilection for sites of friction

A

Hailey-Hailey Disease

210
Q

Acquired condition common in fair-skinned males >40 years which presents with itchy rash on sun-damaged skin of the trunk with intense itch out of proportion

A

Grover Disease

211
Q

Extensive partial loss of intercellular contacts within the epidermis produces the appearance of “dilapidated brick wall”

A

Hailey-Hailey Disease

Dermatology (26 decks)

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