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 (211):
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

Most common irritants

Soaps Detergents Waterless cleansers

26

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

TEWL measurement

27

Novel approach to detect ICD susceptibility

TNF-a gene polymorphism

28

Hallmarks of ICD

Stratum corneum disruption Hyperproliferation Epidermal necrosis

29

Facilitates the differentiation of acute ACD from ICD

Reflectance-mode confocal microscopy

30

Irritant patch test results

Erythema +/- papules confined to test site

31

Gene-Protein: Ichthyosis Vulgaris

FLG - Fillagrin

32

Gene-Protein: Epidermolytic Hyperkeratosis

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

33

Gene-Protein: Ichthyosis bullosa of Siemens

KRT2 - Keratin 2

34

Gene-Protein: Ichthyosis hystrix of Curth and Macklin

KRT1 - Keratin 1

35

Gene-Protein: Annular epidermolytic erythema

KRT1, KRT10 - Keratin 1 or 10

36

Gene-Protein: Erythrokeratodermia variabilis

GJB3 or GJB4 - Connexin 31 or 30.3

37

Gene-Protein: Progressive symmetric erythrokeratodermia

LOR or GJB4 - Connexin 30.3

38

Gene-Protein: Keratitis-Ichthyosis-Deafness

GJB2, GJB6 - Connexin 26, 30

39

Gene-Protein: X-linked Recessive Ichthyosis

STS - Steroid Sulfatase

40

Gene-Protein: Chondrodysplasia punctata X-linked recessive

ARSE - Arylsulfatase E

41

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

EBP - Emapomil Binding Protein

42

Gene-Protein: CHILD syndrome

NSDHL; EBP - 3-B-hydroxysteroid-isomerase

43

Gene-Protein: Harlequin Ichthyosis

ABCA12 - ATP-binding cassette subfamily A, member 12

44

Gene-Protein: Ichthyosis prematurity syndrome

FATP4 - Fatty acid transport protein 4

45

Gene-Protein: Netherton syndrome

SPINK5 - LEKT1

46

Gene-Protein: Sjogren-Larsson syndrome

FALDH (ALDH10, ADH3A2) - Fatty aldehyde dehydrogenase

47

Gene-Protein: Refsum disease

PAHX - Phytanoyl-CoA hydroxylase PEX7

48

Gene-Protein: Trichothiodystrophy

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

49

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

CGI-58

50

Gene-Protein: Neonatal ichthyosis-sclerosing cholangitis

CLDN1 - Claudin 1

51

Gene-Protein: Multiple sulfatase deficiency

SUMF1 - C-formylglycine generating enzyme

52

Gene-Protein: Peeling Skin Syndrome Type A

TGM5 - Transglutaminase 5

53

Ichthyosis - Structural proteins

Transglutaminase 1 Filaggrin Keratins Loricrin

54

Ichthyosis - Intercellular junctions

Plakoglobin Claudin 1 Desmoplakin Desmoglein

55

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

56

Ichthyosis - Intercellular communication

Gap junction protein: Connexins

57

Ichthyosis - Protein metabolism

Proteosome Protein trafficking by intracellular vesicles Protease inhibitor Protease

58

Ichthyosis - Calcium homeostasis

Ca++ dependent ATPase

59

ARCI - Cornified envelope formation

TGM1 Tranglutaminase 1

60

ARCI - Membrane transport/lipid metabolism

ABCA12 ATP-binding cassette, subfamily A, member 12

61

ARCI - Hydroperoxide isomerase

ALOXE3 Arachidonate lipoxygenase (eLOX3)

62

ARCI - Lipoxygenase

ALOX12B Arachidonate 12-lipoxygenase, R type

63

ARCI - Trioxilin A3 receptor or Hepoxylin pathway

Ichthyin

64

ARCI - LTB-w-hydroxylase

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

65

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

66

Histopathologic feature that corresponds to the raised hyperkeratotic border

Cornoid lamella

67

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

68

Most common porokeratosis

Disseminated superficial actinic porokeratosis

69

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

70

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

71

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

Disseminated superficial porokeratosis of immunosuppression

72

Porokeratosis with highest potential for malignant degeneration

Linear porokeratosis

73

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

74

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

75

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

76

CAP syndrome - AD

Craniosynosthosis Anal anomalies Porokeratosis

77

CDAGS syndrome - AD

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

78

Associated tumors with Porokeratosis

Squamous cell carcinoma Bowen disease Basal cell carcinoma

79

First line therapy: Porokeratosis

Photoprotection 5-Fluorouracil Cryotheraphy

80

Second line therapy: Porokeratosis

Calcipotriol Imiquimoid Topical corticosteroids Topical retinoids CO2 laser vaporization

81

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

Transglutaminase-1

82

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

Steroid sulfatase

83

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

SPINK5

84

Most common ichthyosis

Ichthyosis Vulgaris

85

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

86

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

Fillagrin

87

Low maternal urinary estrogens

Steroid sulfatase deficiency

88

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

89

Compact orthohyperkeratosis, acanthosis, papillomatosis with accentuated granular layer

X-linked Ichthyosis

90

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

Autosomal recessive congenital ichthyosis

91

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

92

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

Congenital ichthyosiform erythroderma

93

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

Transglutaminase 1

94

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

Bathing suit ichthyosis

95

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

96

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

Epidermolytic hyperkeratosis

97

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

98

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

NPS-2

99

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

NPS-3

100

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

PS-1

101

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

102

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

PS-3

103

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

Vorner type

104

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

105

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

106

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

107

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

Collodion baby

108

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

109

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

Netherton syndrome

110

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

111

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

Trichorrhexis invaginata or "bamboo hair"

112

ARC syndrome

Arthrogryphosis Renal tubular dysfunction Cholestasis

113

CEDNIK syndrome

CErebral Dysgenesis Neuropathy Ichthyosis Keratoderma

114

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

115

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

116

CHILD syndrome

Congenital Hemidysplasia Ichthyosiform erythroderma Limb Defects

117

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

118

AKA Peroxisomal biogenesis disorder complementation group 11 (CG11)

Rhizomelic chondrodysplasia punctata

119

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

120

Radiologic abnormalities in Rhizomelic chondrodysplasia punctata

Presence of stippled calcifications of cartilage Vertebral body clefting

121

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

122

AKA Conradi-Hunnermann-Happle syndrome

X-linked dominant chondrodysplasia punctata

123

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

124

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

Congenital reticular ichthyosiform erythroderma

125

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

126

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

127

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

Progressive symmetric erythrokeratodermia

128

IFAP syndrome

Ichthyosis Follicularis Alopecia (total non-scarring) Photophobia

129

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

Ichthyosiform prematurity syndrome

130

KID syndrome

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

131

KLICK syndrome

Keratosis Linearis Ichthyosis Congenita (sclerosing) Keratoderma

132

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

133

MEDNIK syndrome

Mental retardation Enteropathy Deafness (peripheral) Neuropathy Ichthyosis Keratodermia

134

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

Multiple sulfatase deficiency

135

NISCH syndrome

Neonatal Ichthyosis Sclerosing CHolangitis

136

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

NISCH syndrome

137

Autosomal recessive disorder with lifelong noninflammatory generalized peeling of the skin

Peeling skin syndrome type A

138

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

Peeling skin syndrome type B

139

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

140

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

Rud syndrome

141

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

Sjogren-Larsson syndrome

142

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

FALDH

143

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

144

PIBIDS

Photosensitivity Ichthyosis Brittle hair Intellectual impairment Decreased fertility Short stature

145

Most common malignancy associated with acquired ichthyosis

Hodgkin disease

146

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

Human T cell leukemia (HTLV)

147

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

True

148

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

Pityriasis rotunda

149

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

Confluent and reticulated papillomatosis of Gougerout and Carteud

150

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

Minocycline

151

Gene-Protein: Epidermolytic PPK

KRT9 - Keratin 9

152

Gene-Protein: Transgredient epidermolytic PPK

KRT1 - Keratin 1

153

Gene-Protein: Diffuse NEPPK (Unna-Throst)

KRT1 - Keratin 1

154

Gene-Protein: Ichthyosis hystrix

KRT1 - Keratin 1

155

Gene-Protein: Focal NEPPK

KRT6c, KRT16 - Keratin 6c, 16

156

Gene-Protein: Pachyonychia congenita type 1

KRT6a, KRT16 - Keratin 6a, 16

157

Gene-Protein: Pachyonychia congenita type 2

KRT6b, KRT17 - Keratin 6b, 17

158

Gene-Protein: Ectodermal dysplasia/Skin fragility syndrome

PKP1 - Plakophilin 1

159

Gene-Protein: Striate PPK

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

160

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

DSP - Desmoplakin 1

161

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

JUP - Plakoglobin

162

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

GJB2, GJB6 - Connexin 26, 30

163

Gene-Protein: Keratitis/Hystrix, Ichthyosis, Deafness

GJB2 - Connexin 26

164

Gene-Protein: Hidrotic ectodermal dysplasia (Clouston)

GJB6 - Connexin 30

165

Gene-Protein: Oculo-dental-digital dysplasia

GJA1 - Connexin 43

166

Gene-Protein: Mitochondrial keratoderma with hearing loss

MSST1 - Serine transfer RNA

167

Gene-Protein: Loricrin keratoderma

LOR - Loricrin (insertion mutation)

168

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

CTSC - Cathepsin C

169

Gene-Protein: Mal de meleda

ARSB - SLURP-1

170

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

RHBDF2 - inhibitor of active rhomboid protease

171

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

WNT10a - Signaling molecule implicated in development

172

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

TYR1 - Tyrosinase

173

Gene-Protein: KLICK

POMP - Protease maturation protein

174

Gene-Protein: CEDNIK

SNAP29 - SNARE protein involved in vesicular fusion

175

Gene-Protein: MEDNIK

AP1S1 - Subunit of O1A of adaptor protein-1 complex

176

Keratoderma associated with carcinoma

Huriez syndrome Olmstead syndrome

177

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

178

Most common palmoplantar keratoderma

Epidermolytic Keratoderma

179

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

180

Restricted to palmoplantar skin due to defect in Keratin 1

Nonepidermolytic Palmoplantar Keratoderma

181

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

182

Painful focal PPK is seen in

Tyrosinemia type II

183

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

184

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

185

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

Huriez syndrome

186

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

187

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

Pachyonychia congenita

188

PC type associated with follicular keratoses, oral leukokeratosis and hoarseness

Pachyonychia congenita-1

189

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

190

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

191

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

192

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

Naegeli-Franceschetti-Jadassohn syndrome Dermatopathia pigmentosa reticularis

193

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

Kindler syndrome

194

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

195

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

Papillon-Lefevre syndrome

196

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

Haim-Munk syndrome

197

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

HOPP syndrome

198

HOPP syndrome

Hypotrichosis (Acro-osteolysis) Onychogryphosis Palmoplantar keratoderma Periodontitis

199

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

200

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

Carvajal-Huerta syndrome

201

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

Vohwinkel syndrome

202

AR syndromes with keratoderma and combination of neuropathy and mental retardation

MEDNIK syndrome CEDNIK syndrome

203

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

204

Gene: Darier Disease

ATP2A2

205

Gene: Hailey-Hailey Disease

ATP2C1

206

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

207

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

Darier Disease

208

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

209

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

Hailey-Hailey Disease

210

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

211

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

Hailey-Hailey Disease