Sec 7 Disorders of Epidermal Differentiation and Keratinization Flashcards Preview

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

Flashcards in Sec 7 Disorders of Epidermal Differentiation and Keratinization Deck (214):
1

How many percent of contact dermatitis is irritant?

80%

2

Most important exogenous factor for ICD

Inherent toxicity of chemical for human skin

3

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

Atopic dermatitis

4

Mainstay of treatment for ICD

Identification and avoidance of potential irritant

5

Mechanisms of ICD:

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

6

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

Tumor Necrosis Alpha-1 (TNA-1)

7

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

CCL21

8

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

Ceramide 1 synthesis

9

Exogenous factors influencing cutaneous reaction

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

10

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

Crossover phenomenon

11

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

True

12

Endogenous factors influencing cutaneous reaction

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

13

Sites more susceptible to ICD

Face
Neck
Scrotum
Dorsal hands

14

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

True

15

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

Irritant reaction

16

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

Acute ICD

17

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

Delayed acute irritancy

18

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

Chronic cummulative ICD

19

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

Subjective irritancy

20

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

Suberythematous irritation

21

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

Frictional dermatitis

22

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

Traumatic dermatitis

23

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

Pustular or acneiform reactions

24

Characterized by intense itching, dry skin and ichthyosiform scaling

Asteatotic irritant reaction

25

Airborne irritants - volatile substances

Acids and alkalis
Ammonia
Anhydrous calcium sulfate
Carbonless copy paper
Dichlorvos
Domestic cleaning products
Epoxy resins
Formaldehyde
Industrial solvents

26

Airborne irritants - powder

Metallic oxide powders
Sawdust from toxic trees
Silver fulminate dust
Wool dust
Cement
Calcium silicate

27

Airborne irritants - particles/salts/foams

Arsenic
Fiberglass
Phenol formaldehyde resins
Sodium sesquicarbonate
Urea-formaldehyde insulating foam

28

Most common irritants

Soaps
Detergents
Waterless cleansers

29

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

TEWL measurement

30

Novel approach to detect ICD susceptibility

TNF-a gene polymorphism

31

Hallmarks of ICD

Stratum corneum disruption
Hyperproliferation
Epidermal necrosis

32

Facilitates the differentiation of acute ACD from ICD

Reflectance-mode confocal microscopy

33

Irritant patch test results

Erythema +/- papules confined to test site

34

Gene-Protein: Ichthyosis Vulgaris

FLG - Fillagrin

35

Gene-Protein: Epidermolytic Hyperkeratosis

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

36

Gene-Protein: Ichthyosis bullosa of Siemens

KRT2 - Keratin 2

37

Gene-Protein: Ichthyosis hystrix of Curth and Macklin

KRT1 - Keratin 1

38

Gene-Protein: Annular epidermolytic erythema

KRT1, KRT10 - Keratin 1 or 10

39

Gene-Protein: Erythrokeratodermia variabilis

GJB3 or GJB4 - Connexin 31 or 30.3

40

Gene-Protein: Progressive symmetric erythrokeratodermia

LOR or GJB4 - Connexin 30.3

41

Gene-Protein: Keratitis-Ichthyosis-Deafness

GJB2, GJB6 - Connexin 26, 30

42

Gene-Protein: X-linked Recessive Ichthyosis

STS - Steroid Sulfatase

43

Gene-Protein: Chondrodysplasia punctata X-linked recessive

ARSE - Arylsulfatase E

44

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

EBP - Emapomil Binding Protein

45

Gene-Protein: CHILD syndrome

NSDHL; EBP - 3-B-hydroxysteroid-isomerase

46

Gene-Protein: Harlequin Ichthyosis

ABCA12 - ATP-binding cassette subfamily A, member 12

47

Gene-Protein: Ichthyosis prematurity syndrome

FATP4 - Fatty acid transport protein 4

48

Gene-Protein: Netherton syndrome

SPINK5 - LEKT1

49

Gene-Protein: Sjogren-Larsson syndrome

FALDH (ALDH10, ADH3A2) - Fatty aldehyde dehydrogenase

50

Gene-Protein: Refsum disease

PAHX - Phytanoyl-CoA hydroxylase
PEX7

51

Gene-Protein: Trichothiodystrophy

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

52

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

CGI-58

53

Gene-Protein: Neonatal ichthyosis-sclerosing cholangitis

CLDN1 - Claudin 1

54

Gene-Protein: Multiple sulfatase deficiency

SUMF1 - C-formylglycine generating enzyme

55

Gene-Protein: Peeling Skin Syndrome Type A

TGM5 - Transglutaminase 5

56

Ichthyosis - Structural proteins

Transglutaminase 1
Filaggrin
Keratins
Loricrin

57

Ichthyosis - Intercellular junctions

Plakoglobin
Claudin 1
Desmoplakin
Desmoglein

58

Ichthyosis - Lipid metabolism

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

59

Ichthyosis - Intercellular communication

Gap junction protein: Connexins

60

Ichthyosis - Protein metabolism

Proteosome
Protein trafficking by intracellular vesicles
Protease inhibitor
Protease

61

Ichthyosis - Calcium homeostasis

Ca++ dependent ATPase

62

ARCI - Cornified envelope formation

TGM1
Tranglutaminase 1

63

ARCI - Membrane transport/lipid metabolism

ABCA12
ATP-binding cassette, subfamily A, member 12

64

ARCI - Hydroperoxide isomerase

ALOXE3
Arachidonate lipoxygenase (eLOX3)

65

ARCI - Lipoxygenase

ALOX12B
Arachidonate 12-lipoxygenase, R type

66

ARCI - Trioxilin A3 receptor or Hepoxylin pathway

Ichthyin

67

ARCI - LTB-w-hydroxylase

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

68

Disorders associated with Collodion Membrane

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

69

Histopathologic feature that corresponds to the raised hyperkeratotic border

Cornoid lamella

70

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

Porokeratosis of Mibelli

71

Most common porokeratosis

Disseminated superficial actinic porokeratosis

72

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

Disseminated superficial actinic porokeratosis

73

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

Disseminated superficial porokeratosis

74

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

Disseminated superficial porokeratosis of immunosuppression

75

Porokeratosis with highest potential for malignant degeneration

Linear porokeratosis

76

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

Linear porokeratosis

77

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

Porokeratosis palmaris et plantaris disseminata

78

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

Punctate porokeratosis

79

CAP syndrome - AD

Craniosynosthosis
Anal anomalies
Porokeratosis

80

CDAGS syndrome - AD

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

81

Associated tumors with Porokeratosis

Squamous cell carcinoma
Bowen disease
Basal cell carcinoma

82

First line therapy: Porokeratosis

Photoprotection
5-Fluorouracil
Cryotheraphy

83

Second line therapy: Porokeratosis

Calcipotriol
Imiquimoid
Topical corticosteroids
Topical retinoids
CO2 laser vaporization

84

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

Transglutaminase-1

85

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

Steroid sulfatase

86

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

SPINK5

87

Most common ichthyosis

Ichthyosis Vulgaris

88

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.

Ichthyosis Vulgaris

89

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

Fillagrin

90

Low maternal urinary estrogens

Steroid sulfatase deficiency

91

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

X-linked Ichthyosis

92

Compact orthohyperkeratosis, acanthosis, papillomatosis with accentuated granular layer

X-linked Ichthyosis

93

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

Autosomal recessive congenital ichthyosis

94

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.

Lamellar ichthyosis

95

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

Congenital ichthyosiform erythroderma

96

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

Transglutaminase 1

97

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

Bathing suit ichthyosis

98

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

Epidermolytic hyperkeratosis

99

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

Epidermolytic hyperkeratosis

100

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

NPS-1

101

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

NPS-2

102

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

NPS-3

103

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

PS-1

104

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

PS-2

105

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

PS-3

106

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

Vorner type

107

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)

Ichthyosis Bullosa of Siemens

108

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

Ichthyosis Hystrix of Curth and Macklin

109

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.

Annular epidermolytic erythema

110

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

Collodion baby

111

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.

Harlequin ichthyosis

112

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

Netherton syndrome

113

Usual skin manifestation of Netherton syndrom

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

114

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

Trichorrhexis invaginata or "bamboo hair"

115

ARC syndrome

Arthrogryphosis
Renal tubular dysfunction
Cholestasis

116

CEDNIK syndrome

CErebral Dysgenesis
Neuropathy
Ichthyosis
Keratoderma

117

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

CEDNIK syndrome

118

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

Chanarin-Dorfman Syndrome

119

CHILD syndrome

Congenital Hemidysplasia
Ichthyosiform erythroderma
Limb Defects

120

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)

X-linked dominant chondrodysplasia punctata

121

AKA Peroxisomal biogenesis disorder complementation group 11 (CG11)

Rhizomelic chondrodysplasia punctata

122

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

Rhizomelic chondrodysplasia punctata

123

Radiologic abnormalities in Rhizomelic chondrodysplasia punctata

Presence of stippled calcifications of cartilage
Vertebral body clefting

124

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

X-linked recessive chondrodysplasia punctata

125

AKA Conradi-Hunnermann-Happle syndrome

X-linked dominant chondrodysplasia punctata

126

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.

X-linked dominant chondrodysplasia punctata

127

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

Congenital reticular ichthyosiform erythroderma

128

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

Erythrokeratodermia variabilis - generalized type

129

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

Erythrokeratodermia variabilis - localized type

130

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

Progressive symmetric erythrokeratodermia

131

IFAP syndrome

Ichthyosis Follicularis
Alopecia (total non-scarring)
Photophobia

132

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

Ichthyosiform prematurity syndrome

133

KID syndrome

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

134

KLICK syndrome

Keratosis Linearis
Ichthyosis Congenita
(sclerosing) Keratoderma

135

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

KLICK syndrome

136

MEDNIK syndrome

Mental retardation
Enteropathy
Deafness
(peripheral) Neuropathy
Ichthyosis
Keratodermia

137

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

Multiple sulfatase deficiency

138

NISCH syndrome

Neonatal Ichthyosis
Sclerosing CHolangitis

139

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

NISCH syndrome

140

Autosomal recessive disorder with lifelong noninflammatory generalized peeling of the skin

Peeling skin syndrome type A

141

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

Peeling skin syndrome type B

142

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

Refsum disease

143

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

Rud syndrome

144

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

Sjogren-Larsson syndrome

145

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

FALDH

146

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

Trichothiodystrophy

147

PIBIDS

Photosensitivity
Ichthyosis
Brittle hair
Intellectual impairment
Decreased fertility
Short stature

148

Most common malignancy associated with acquired ichthyosis

Hodgkin disease

149

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

Human T cell leukemia (HTLV)

150

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

True

151

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

Pityriasis rotunda

152

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

Confluent and reticulated papillomatosis of Gougerout and Carteud

153

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

Minocycline

154

Gene-Protein: Epidermolytic PPK

KRT9 - Keratin 9

155

Gene-Protein: Transgredient epidermolytic PPK

KRT1 - Keratin 1

156

Gene-Protein: Diffuse NEPPK (Unna-Throst)

KRT1 - Keratin 1

157

Gene-Protein: Ichthyosis hystrix

KRT1 - Keratin 1

158

Gene-Protein: Focal NEPPK

KRT6c, KRT16 - Keratin 6c, 16

159

Gene-Protein: Pachyonychia congenita type 1

KRT6a, KRT16 - Keratin 6a, 16

160

Gene-Protein: Pachyonychia congenita type 2

KRT6b, KRT17 - Keratin 6b, 17

161

Gene-Protein: Ectodermal dysplasia/Skin fragility syndrome

PKP1 - Plakophilin 1

162

Gene-Protein: Striate PPK

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

163

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

DSP - Desmoplakin 1

164

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

JUP - Plakoglobin

165

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

GJB2, GJB6 - Connexin 26, 30

166

Gene-Protein: Keratitis/Hystrix, Ichthyosis, Deafness

GJB2 - Connexin 26

167

Gene-Protein: Hidrotic ectodermal dysplasia (Clouston)

GJB6 - Connexin 30

168

Gene-Protein: Oculo-dental-digital dysplasia

GJA1 - Connexin 43

169

Gene-Protein: Mitochondrial keratoderma with hearing loss

MSST1 - Serine transfer RNA

170

Gene-Protein: Loricrin keratoderma

LOR - Loricrin (insertion mutation)

171

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

CTSC - Cathepsin C

172

Gene-Protein: Mal de meleda

ARSB - SLURP-1

173

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

RHBDF2 - inhibitor of active rhomboid protease

174

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

WNT10a - Signaling molecule implicated in development

175

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

TYR1 - Tyrosinase

176

Gene-Protein: KLICK

POMP - Protease maturation protein

177

Gene-Protein: CEDNIK

SNAP29 - SNARE protein involved in vesicular fusion

178

Gene-Protein: MEDNIK

AP1S1 - Subunit of O1A of adaptor protein-1 complex

179

Keratoderma associated with carcinoma

Huriez syndrome
Olmstead syndrome

180

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

Punctate Keratoderma
Buscke-Fisher-Brauer syndrome

181

Most common palmoplantar keratoderma

Epidermolytic Keratoderma

182

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

Epidermolytic Keratoderma

183

Restricted to palmoplantar skin due to defect in Keratin 1

Nonepidermolytic Palmoplantar Keratoderma

184

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

Focal PPK

185

Painful focal PPK is seen in

Tyrosinemia type II

186

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

Striate PPK

187

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

Loricrin keratoderma
Camisa syndrome

188

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

Huriez syndrome

189

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.

Mal de Meleda

190

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

Pachyonychia congenita

191

PC type associated with follicular keratoses, oral leukokeratosis and hoarseness

Pachyonychia congenita-1

192

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.

Pachyonychia congenita-2

193

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)

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

194

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.

Olmstead syndrome

195

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

Naegeli-Franceschetti-Jadassohn syndrome
Dermatopathia pigmentosa reticularis

196

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

Kindler syndrome

197

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

Howel-Evans syndrome

198

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

Papillon-Lefevre syndrome

199

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

Haim-Munk syndrome

200

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

HOPP syndrome

201

HOPP syndrome

Hypotrichosis
(Acro-osteolysis)
Onychogryphosis
Palmoplantar keratoderma
Periodontitis

202

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

Naxos disease

203

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

Carvajal-Huerta syndrome

204

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

Vohwinkel syndrome

205

AR syndromes with keratoderma and combination of neuropathy and mental retardation

MEDNIK syndrome
CEDNIK syndrome

206

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

Tyrosinemia type II

207

Gene: Darier Disease

ATP2A2

208

Gene: Hailey-Hailey Disease

ATP2C1

209

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

Darier Disease

210

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

Darier Disease

211

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

Acrokeratosis Verruciformis or Acral Darier Disease

212

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

Hailey-Hailey Disease

213

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

Grover Disease

214

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

Hailey-Hailey Disease