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Lever's > Chapter 6 > Flashcards

Chapter 6 Flashcards

1
Q

ichthyosis vulgaris mutation/inheritance

A

filaggrin mutation–defective/abnormal synthesis of filaggrin, AD inheritance

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2
Q

ichthyosis vulgaris clinical

A

starts few months after birth, large adherent scales on extensor surfaces of extremities (fish scales). smaller scales on other surfaces. Spares flexural creases. +KP, HK on palms/soles

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3
Q

ichthyosis vulgaris acquired variant

A
  • pts with lymphoma (Hodgkins), carcinoma, or sarcoid.
  • decreased expression of profilaggrin likely 2/2 instability of its mRNA (small, but normal k-h granules–reduced, but normal synthesis)
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4
Q

ichthyosis vulgaris path

A
  • moderate HK with thin or absent granular layer
  • HK extends into hair follicles–>large keratotic follicular plugs
  • normal dermis
  • normal epidermal proliferation (with tritiated thymidine)
  • “retention keratosis from increased adhesiveness of SC”
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5
Q

ichthyosis vulgaris EM

A
  • k-h granules appear small and crumby or spongy due to defective synthesis
  • s. granulosum is only a single layer
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6
Q

X-linked ichthyosis inheritance/genetics

A
  • x-linked recessive. 90% gene deletion

- absence of steroid sulfatase activity

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7
Q

X-linked ichthyosis clinical

A

rarely present at birth. female carriers are frequently affected, but men have more severe.
-scale thickness increases in childhood
+involvement of flexural creases

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8
Q

X-linked ichthyosis path

A
  • hk with normal or slightly thickened granular layer
  • slightly thickened epidermis
  • normal epidermal proliferation (with tritiated thymidine)
  • “retention hk from delayed dissolution of desmosomal disks in horny layer”
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9
Q

steroid sulfatase role in x-linked icthyosis

A
  • deleted in x-linked icthyosis
  • usually removes cholesteryl sulfate (made by Odland bodies) which provides cell cohesion in the lower stratum corneum
  • without STS, cells stay stuck together and can’t normally desquamate
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10
Q

epidermolytic hyperkeratosis (EHK) inheritance

A

-AD

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11
Q

EHK synonym

A

bullous congenital ichthyosiform erythroderma

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12
Q

epidermolytic hyperkeratosis (EHK) clinical

A
  • starts few days after birth
  • thick brown verrucous scaling
  • flexural surfaces with furrowed hk
  • vesicles and bullae and erosions only in first few years
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13
Q

epidermolytic hyperkeratosis (EHK) path

A
  • “epidermolytic hk” or “granular degeneration”
  • clear spaces around nuclei in upper stratum spinosum and in stratum granulosum
  • peripheral to clear spaces, cells have indistinct boundaries formed by lightly staining material or by k-hg’s
  • thickened granular layer with irregularly shaped khg’s
  • compact hk
  • bullae are intrapidermal
  • upper dermis with mod-severe chronic inflammatory infiltrate
  • 5x the number of normal mitotic figures
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14
Q

epidermolytic hyperkeratosis (EHK) pathogenesis/genetics

A
  • defects in KRT1 an KRT10
  • excessive production of tonofilaments
  • excessive and premature khg formation (get embedded in thick shells of irreg tonofilaments)
  • desmosomal/tonofilament binding disturbed, so see desmosomes that only attach to one kc–>blisters
  • increased proliferative activity of epidermis (see with tritiated thymidine)
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15
Q

Autosomal recessive ichthyosis 2 subtypes–clinical

A

1) congenital ichthyosiform erythroderma:
- less severe
- fine white scales, significant erythroderma, improves with puberty
2) lamellar ichthyosis
- large, platelike scales, severe ectropion, only miild erythroderma

+palms/soles, flexural surfaces involved in both

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16
Q

Autosomal recessive ichthyosis genetics/pathogenesis

A

heterogeneous from family to family

  • transglutaminase 1 (TGM1) deleted
  • mutation in ABCA12
  • storage of neutral lipid in multiple tissues (Chanarin-Dorfman syndrome) -see lipid vacuoles in leukocytes
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17
Q

CHILD syndrome clinical

A
  • starts at birth
  • unilateral ichthyosiform erythroderma
  • ipsilateral underdevelopment of limbs
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18
Q

CHILD syndrome mnemonic

A 
Congenital
Hemidysplasia with 
Ichthyosiform erythrodermal and 
Limb
Defects
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19
Q

CHILD syndrome genetics

A
  • x-lined dominant defect–lethal in hemizygote maale fetus

- all cases females

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20
Q

CHILD syndrome pathogenesis

A
  • peroxisomes abnormal in fibroblasts

- mutations in genes encoding enzymes that convert lanosterol to cholesterol

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21
Q

CHILD syndrome path

A
  • thickened epidermis
  • pronounced hk
  • prominent parakeratotic foci
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22
Q

Harlequin ichthyosis clinical/inheritance

A
  • usually fatal
  • starts at birth-thick, horny cuirass (armor) with deep fissures
  • marked ectropion, eclabium
  • AR inheritance
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23
Q

Harlequin ichthyosis path

A
  • massive hk (SC 25-30x thicker than malpighii (basal+spinosum)
  • granulosum-normal to flattened to absent
  • small droplets of neutral fat uniformly throughout SC
  • areas of parakeratosis
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24
Q

Harlequin ichthyosis genetics

A
  • deletion mutation of ABCA12
  • abnormal lamellar body formation and secretion
  • inadquate delivery of desmosomal proteases to SC
  • failure to degrade corneodesmosomes
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25
Q

Erythrokeratodermia variabilis clinical/inheritance

A
  • dominant inheritance
  • starts in infancy (not birth)
    1) areas of erythema: expand centrifugally and cooalesce into circinate figures. fluctuant, variable
    2) persistent hk plaques in and out of erythematous areas
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26
Q

Erythrokeratodermia variabilis-path

A

nonspecific

  • in hk plaques: hk with mod papillomatosis and acanthosis
  • normal granular
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27
Q

Erythrokeratodermia variabilis-pathogenesis/genetics

A
  • normal proliferation (tritiated thymidine)
  • hk due to decreased shedding of horny cells (retention)
  • mutations of gjb3, gjb4, affecting connexins 31 and 30.3
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28
Q

ichthyosis linearis circumflexa-inheritance/clinical

A
  • recesive
  • present at birth or shortly after
  • extensive migratory polycyclic lesions of erythema and scaling
  • “double edged scale” at periphery
  • extensive erythema
  • chronic, lifelong
  • hair anomaly
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29
Q

ichthyosis linearis circumflexa hair anomaly

A

-trichorrhexis invaginata as part of Netherton’s syndrome

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30
Q

ichthyosis linearis circumflexa-path

A
  • scaly red areas are nonspecific, somewhat psoriasiform with elongated rete ridges and hk and pk
  • double edged scale: upper malpighii with intracellular edema and irregular spongiosis
  • multilocular vesicles or vesiculopustules in corneum
  • sometimes focal PAS+, diastase resistant homoogenous material (exuded serum protein) in parakeratotic SC (nonspecific)
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31
Q

Sjogren-Larsson syndrome

A
  • lamellar ichthyosis
  • mental retardation
  • spastic paresis
  • fibroblasts and leukocytes deficient in activity of fatty alcohol and NAD oxidoreducatse
  • gene defect in FALDH
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32
Q

Rud’s syndrome

A
  • generalized ichthyosis
  • hypogonadism
  • mental deficiency
  • epilepsy
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33
Q

Conradi-Hunermann syndrome

A
  • X linked form of chondrodysplasia punctata
  • ichthyosis with a whorled pattern
  • skeletal and ocular abnormalities
  • defect in emopamil binding protein affected delta 8, delta 7 sterol isomerase
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34
Q

Netherton’s syndrome

A
  • ichthyosis linearis circumflexa (or less commonly lamellar ichthyosis)
  • predisposition to atopic dermatitis
  • tricorrhexis invaginata
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35
Q

IBIDS syndrome

A
  • Ichthyosis
  • Brittle hair
  • Impaired intelligence
  • Decreased fertility
  • Short stature
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36
Q

PIBIDS syndrome

A
  • Photosensitivity
  • Ichthyosis
  • Brittle hair
  • Impaired intelligence
  • Decreased fertility
  • Short stature
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37
Q

KID syndrome

A
  • Keratitis
  • Ichthyosis
  • Deafness
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38
Q

neutral lipid storage disease

A
  • ichythyosis
  • cataracts
  • deafness
  • ataxia
  • lipid droplets in circulating cells
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39
Q

multiple sulfatase deficiencies

A
  • ichthyosis
  • neurodegeneration
  • organomegaly
  • skeletal dysplasia (including steroid sulfatase deficiency)
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40
Q

Refsum’s syndrome-inheritance/clinical

A
  • AR inheritance
  • generalized ichthyosis
  • cerebellar ataxia
  • progressive paresis of the extremities
  • retinitis pigmentosa
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41
Q

Refsum’s syndrome-path

A
  • hk
  • hypergranulosis
  • acanthosis
  • basal/suprabasal cells: vacuoles with lipids
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42
Q

Refsum’s syndrome-genetics

A
  • mutations in phytanol-CoA hydroxylase gene
  • deficiency of alpha-phytanic acid alpha-hydroxylase
  • accumulation of phytanic acid
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43
Q

keratosis palmaris et plantaris-subtypes and inheritance

A
  • three autosomal dominant forms
    1) keratosis palmaris et plantaris of Unna-Thost
    2) Epidermolytic keratosis palmaris et plantaris
    3) keratosis palmoplantaris punctata (or papulosa)
  • two recessively inherited forms
    1) keratosis palmaris et plantaris of the Meleda type
    2) Papillon-Lefevre syndrome
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44
Q

keratosis palmaris et plantaris of Unna-Thost-clinical

A

-diffuse or localized
-linear hk of palms/soles
two patterns:
1)circumscribed type, limited to palms/soles
2)extending type with progression to dorsa of hands and feet, ankles wrists, elbows knees

-path:nonspecific, lots of hk, hypergranulosis, acanthosis, sparse lymphocytic infiltrate in upper dermis

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45
Q

Epidermolytic keratosis palmaris et plantaris-clinical/path/genetics

A
  • clinically same as Unna-Thost
  • path shows epidermolytic hk
  • keratin 9 mutation in chromosome 17q 12-q21
  • keratin 1 on chromosome 12q13
  • path: path same as EHK
  • vacuolated cells in mid/upper S malpighii
  • scattered cavities from ruptured cell walls
  • khg’s numerous, large
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46
Q

keratosis palmoplantaris punctata (or papulosa)-clinical

A

-multiple keratotic plugs

  • path: massive HK over sharply limited area with underlying depression of malpighian layer
  • increased thickness of granular layer
  • dermis normal
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47
Q

keratosis palmaris et plantaris of the Meleda type

A
  • diffuse palm/sole involvement
  • progression toward dorsal hands, feet, ankles, wrists, elbows, knees

-path:nonspecific, lots of hk, hypergranulosis, acanthosis, sparse lymphocytic infiltrate in upper dermis

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48
Q

Papillon-Lefevre syndrome

A

-same clinical as Meleda type
-diffuse palm/sole involvement
-progression toward dorsal hands, feet, ankles, wrists, elbows, knees
PLUS:
-periodontosis leading to loss of baby teeth and permanent teeth

-path:nonspecific, lots of hk, hypergranulosis, acanthosis, sparse lymphocytic infiltrate in upper dermis

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49
Q

Papillon-Lefevre syndrome-genetics

A
  • abnormalities of cathepsin C on chromosome 11q14.1
  • mut in keratin 6b, 9, 16, 17 on chr 12q13 and 17q12-q21
  • mut in connexin 30 on 13q12
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50
Q

other syndromes in which keratosis palmaris et plantaris occurs

A

1) pachyonychia congenital
2) hidrotic ectodermal dysplasia
3) Richner-Hanhart syndrome associated with tyronsinemia (tyrosine tyrosinase on 16q22,1-q22.3)

51
Q

acrokeratoelastoidosis-clinical/path/EM

A
  • AD inheritance
  • firm, shiny papules at edges of palms/soles, extended to dorsa of fingers and sides of feet
  • path: papules-diminution and fragmentation of elastic fibers in deep dermis
  • thickened/tortuous elastic fibers

-EM: elastic fibers in reticular dermis are disaggregated with fragmentation of microfibrils

52
Q

pachyonychia congenital-clinical features/inheritance

A

-AD inheritance

1) subungual hyperkeratosis
2) keratosis palmaris et plantaris with thick callosities, especially on soles
- tender
- often blisters
3) thick white areas on oral mucosa (no tendency for malignant degeneration)
- also, follicular HK, esp elbows & knees

53
Q

pachyonychia congenita-4 types

A

1) prominent ppk, extensive fhk also involving trunk
2) (most common) scalloped tongue and oral leukokeratosis
3) corneal thickenings and cataracts
4) (Jackson-Lawler) develops cysts of the head, neck, and chest at puberty

maybe late onset type also

54
Q

pachyonychia congenita-path

A
  • nail bed: marked HK
  • blisters beneath and around plantar callosities (no necrosis)
  • intracellular edema and vacuolization
  • oral: thickening of epithelium, extensive intracellular vacuolization
55
Q

pachyonychia congenita-genetics

A

-mutations in K6b, K9, K16, K17 on chromosome 12q13 or 17q12-q21

56
Q

dyskeratosis congenita-inheritance

A
  • x-linked recessive (only in males)

- (though can sometimes be AD, thus females can be affected)

57
Q

dyskeratosis congenita-clinical triad

A

1) nail dystrophy
- nails can’t form a nail plate
2) leukokeratosis of oral mucosa (also occ anal)*predisposed to carcinoma
3) extensive netlike pigmentation of skin, suggestive of poikiloderma atrophicans vasculare, but with less atrophy and telangiectasia

  • also testicular atrophy
  • can get fanconi type anemia with leukopenia, thrombocytopenia, ends in pancytopenia
58
Q

dyskeratosis congenita-path

A
  • netlike pigmentation: melanophages in upper dermis

- oral: SCCIS or SCC

59
Q

dyskeratosis congenita-genetics

A
  • DKC1 encodes dyskerin
  • dyskerin required for ribosome biogenesis and telomerase RNP assembly
  • location Xq28
  • x linked and AD-reduced telomere lengths, normal telomerase activity
60
Q

porokeratosis subtypes, inheritance

A

AD inheritance

1) plaque-Mibelli
2) Disseminated superficial actinic porokeratosis
3) linear porokeratosis
4) porokeratosis plantaris, palmaris, et disseminata
5) punctate porokeratosis

-all except punctate have peripheral keratotic ridge corresponding to cornoid lamella

61
Q

plaque type porokeratosis of mibelli

A
  • single or few lesions, several cm
  • raised border with furrow on top filled with keratotic material
  • can peripherally extend
62
Q

Disseminated superficial actinic porokeratosis

A
  • most common
  • sun exposed areas, exacerbated by sun (in most cases)
  • extensor extremities=most common
  • small, with narrow, slightly raised, hk ridge without a distinct furrow
63
Q

linear porokeratosis

A
  • segmental or generalized

- resemble linear verrucous epidermal nevus

64
Q

porokeratosis plantaris, palmaris, et disseminata

A
  • starts in adolescence of early adulthood
  • many lesions on palms/soles
  • later involves other body areas with numerous small lesions
65
Q

punctate porokeratosis

A
  • limited to palms/soles
  • numerous 1-2mm seedlike keratotic plugs
  • moderately tender
66
Q

porokeratosis path

A
  • must biopsy from peripheral raised hk ridge
  • keratin filled invagination of epidermis (fairly shallow)
  • homogenous cells in SC
  • nonspecific perivascular chronic inflamm infiltrate in dermis
67
Q

plaque type porokeratosis (mibelli) path

A
  • -keratin filled invagination of epidermis extends downward at an angle, pointing away from central portion of lesion
  • in the center is a parakeratotic column (coronoid lamella)**characteristic of mibelli!
  • horny cells of the column are homogenous and have pyknotic nuclei
  • beneath column, k-c’s are irregularly arranged, pyknotic nuclei, perinuclear edema
  • at column, no granular layer. other invaginations have normal granular layer
68
Q

porokeratosis genetics

A
  • overexpression of p53 tumor suppressor

- clone of abnormal epidermal cells at base of parakeratotic column

69
Q

xeroderma pigmentosum

A
  • AR
  • three stages
    1) at 1-2yo, slight diffuse erythema with scaling and hyperpig resembling freckles
    2) atrophy, mottled pigmentation, telangiectases, solar keratosis
    3) starts around adolescence, SCC BCC, rare fibrosarcoma. 3% get MM. also conjunctivitis, keratitis with corneal opacities
70
Q

XP path

A

stage 1) nonspecific–changes not usually seen in kid’s skin–HK, thin s malpighii, atrophy of some rete ridges, elongation of others, irregular accumulations of melanin in basal layer (+/- increased # of mc’s)
stage 2) more pronounced hk/hyperpig. atrophy and acanthosis. solar keratosis/downward growth of epidermis. solar elastosis and basophilic degeneration of collage in upper dermis
stage 3) cancers

71
Q

XP genetics

A
  • mutation leading to inadequate excision repair of DNA

- deficient DNA-endonuclease

72
Q

ectodermal dysplasia

A

abnormalities of hair, nails, teeth, sweat glands
2 types:
1)hidrotic
2)anhidrotic

73
Q

hidrotic ectodermal dysplasia

A

AD

  • hypotrichosis (slight to total)
  • dystrophic nails
  • pp hk
  • +/- dental hypoplasia

mutated gene=GJB6 (gap junction protein beta-b) chro 13q12, encodes connexin 30

74
Q

anhidrotic ectodermal dysplasia

A

XLR, full expression only in men

  • anhidrosis/hypohidrosis
  • hypotrichosis
  • dental hypoplasia
  • characteristic facies (prominent frontal bossing, depressed nasal bridge)
  • occ nail dystrophy
  • intolerance to heat
  • mucous glands of mouth and respiratory tract may be absent, occ lack of mammary glands, nipples

female carriers
-mildly affected-reduced sweating, faulty dentition

  • mutations in gene for ectodysplasin, its receptor or mediating proteins
  • EDA or dL or EDARADD
  • Xq12-q13.1
75
Q

ectodermal dysplasia-path

A

anhidrotic-absence or severe hypoplasia of eccrine glands

76
Q

focal dermal hypoplasia-genetics

A

x-linked dominant (lethal in homozygous males)

-mtation in PORCN involved in wnt signaling

77
Q

focal dermal hypoplasia-alternate name

A

Goltz syndrome

78
Q

focal dermal hypoplasia-clinical

A
  • linear areas of hypoplasia resembling striae distensae
  • soft yellow nodules in linear arrangement
  • large ulcers due to congenital absence of skin (heal with atrophy)
  • syndactyly (lobster claw)
  • absence of digit
  • colobomata of eyes
  • microphthalmia
  • agenesis of an eye
  • hypoplasia of hair, nails, teeth
  • osteopathia striata (parallel, vertical striations in metaphysis of long bones)
79
Q

focal dermal hypoplasia-path

A

-dermis is hypoplastic-only a few collagen fibers separating epidermis and fat

80
Q

aplasia cutis congenita-clinical

A
  • localized absence of skin at birth

- usually one or several ulcers on scalp (1-3cm), heal uneventfully or in utero

81
Q

poikiloderma congenitale-another name

A

Rothmund-Thomson syndrome

82
Q

poikiloderma congenitale-genetics

A
  • AR

- mutations in DNA helicase gene RECQLA on chr 8q24.3

83
Q

poikiloderma congenitale-clinical

A
  • starts a few months after birth
  • erythema on face, spreads to dorsa of hands, feet, occ arms, legs, buttocks
  • later, slight atrophy with telangiectases and mottled hyper/hypopigmentation
  • worse with light
  • dwarfism
  • hypogonadism
  • 40% cataracts
84
Q

congenital telngiectatic erythema AKA:

A

Bloom’s syndrome

85
Q

congenital telangiectatic erythema-genetics

A
  • AR

- mutations in gene encoding DNA helicase RecQ protein like 2 on chr 15q26.1

86
Q

congenital telngiectatic erythema-clinical

A

(similar to poikiloderma congenitale)

  • telangiectatic erythema of face starting in infancy
  • extends to forearms/hands
  • photosensitivity
  • cafe au lait macules (>50%)
  • growth retardation

(different than poikiloderma congenitale)

  • lack of netlike hyper/hypopig
  • no hypogonadsm
  • no cataracts
  • occ immunoglobulin deficiencies (IGA, IGM)
  • nonspecific chromosomal breakage/instability, sister chromatid exchange
  • increased risk for malignant disease (leukemia, lymphoma, carcinoma of alimentary tract)
87
Q

ataxia-telangiectasia-genetics

A
  • AR
  • IgA/IgE deficiency
  • chromosome breakage is ommon
  • mutations in ATM gene (protein kinase) chr 11q22.3
88
Q

ataxia-telangiectasia-clinical

A
  • ataxia in infancy
  • telangiectases start in childhood-bulbar conjunctivae, then to cheeks, ears, neck, and to buttocks, ext
  • high risk of infection (sinopulmonar)
  • die from chronic respiratory infection or lymphoma/leukemia
  • IgA and IgE deficiency/absence in 75%
89
Q

progeria AKA

A

Werner’s syndrome

90
Q

progeria-genetics

A
  • AR
  • RECQL2 gene mutation leads to poor growth/decreased life span of cultured skin fibroblasts
  • chr 8p12-11.2
91
Q

progeria-clinical

A
  • starts in second to third decade of life
  • subQ fat and muscle of extremities atrophies
  • skin of extremities becomes taut, ulcers on legs
  • premature senility-graying of hair, cataracts, atherosclerosis in early adulthood
  • late onset DM
  • hypogonadism
  • die in fifth decade of life 2/2 atherosclerosis
92
Q

epidermolysis bullosa-three types

A
  • epidermal
  • junctional
  • dermal
93
Q

EB path-how to bx

A
  • bx edge of blister or induced blister

- bx with shave? as torsion of punch can cause loss or separation of epidermis

94
Q

EB path by type: epidermal, jxnl, dystrophica

A

epidermal: separation in basal layer
junctional: split between epidermis and dermis
dystrophica: dermal/epidermal separation

95
Q

Epidermolysis bullosa acquisita-clinical

A
  • starts in childhood or adult
  • blisters at site of trauma leading to atrophic scars
  • milia after years
  • occ oral lesions
  • often circulating IgG abs
96
Q

EBA pathogenesis

A
  • subepidermal deposits of IgG and C3 on DIF

- circulating antibodies vs IgG on IIF

97
Q

familial benign pemphigus AKA

A

hailey hailey disease

98
Q

hailey hailey-genetics

A
  • AD

- ATP2C1 mutation chr 3q21-q24 (ATP dependent calcium transport)

99
Q

Hailey hailey clinical

A
  • localized recurrent small vesicles on erythematous base
  • circinate configuration
  • intertriginous, esp axillae and groin. rare mucosa
100
Q

hailey hailey path

A
  • suprabasal separations
  • elongated papillae lined by single layer of basal cells protrudes upward into bulla
  • loss of intercellular bridges, few remain to hold cells loosely together–“dilapidated brick wall”
101
Q

keratosis follicularis AKA

A

Darier’s disease

102
Q

Darier’s disease-genetics

A

-ATP2A2 mutation on chr T2–sarcoplasmic/endoplasmic reticulum calcium pumping ATPase SERCA2 on gene 12q23-24

103
Q

Darier’s disease-clinical

A
  • persistent, slowly progressive eruption of hyperkeratotic or crusted papules showing follicular distribution
  • papules can coalesce to plaques
  • seborrheic areas
  • occ oral involvement
104
Q

Darier’s disease subtypes

A
  • hypertrophic
  • vesiculobullous
  • linear or zosteriform
105
Q

Darier’s disease-path

A
  • peculiar form of dyskeratosis with corps ronds and grains
  • suprabasal acantholysis leading to suprabasal clefts or lacunae
  • irregular upward proliferations into lacunae of papillae lined with a single layer of basal cells, so called villi
  • papillomatosis
  • acanthosis
  • hk
  • chronic inflammatory dermal infiltrate
106
Q

acrokeratosis verruciformis of hopf-clinical

A
  • AD

- flat, hk, occ verrucous papules on distal extremities, esp dorsa of hands and feet

107
Q

acrokeratosis verruciformis of hopf-path

A
  • hk, increased granular layer, acanthosis

- slight papillomatosis

108
Q

pseudoxanthoma elasticum-genetics

A
  • AR, occ AD
  • ABC-C6 gene mutations, 16p13.1
  • classic disorder is recessive type 1
  • dominant type 1-cutaneous/internal manifestations are more severe
  • dominant type 2-less severe
  • recessive type 2 only cutaneous involvement (extensive though)
109
Q

pseudoxanthoma elasticum-clinical

A
  • elastic fibers calcify
  • skin lesions start in first, second or third decade, progress in extent and severity
  • soft, yellowish, coalescing papules which appear loose and wrinkled
  • sides of neck, axillae, groin
  • angioid streaks of fundi lead to impaired vision
  • arteries may be involved (gastric-hemorrhage, coronary-angina, rare MI, large peripheral arteries-intermittent claudication)
110
Q

connective tissue nevus

A
  • hamartoma, increased collagen
  • elastic tissue may be normal, increased, or decreased
  • indurated, slightly elevated nodules
  • grouped in one or several plaques
  • can be widely disseminated
111
Q

linear melorheostotic scleroderma

A
  • linear hyperostosis of an extremity
  • thickening and hypertrichosis of overlying skin
  • start in infancy
112
Q

winchester syndrome

A
  • AR
  • only in inbred kids
  • dwarfism
  • small joint destruction
  • corneal opacities
  • thickening and hypertrichosis of skin
  • hypertrophic lips and gingivae
113
Q

winchester syndrome-genetics

A

-mutations on MMP2 gene

114
Q

ehlers-danlos syndrome-general characteristics

A

hyperextensibility of skin
fragility of skin with impaired wound healing
formation of atrophic scars
hypermobility of joints(dislocations)
raisin like wrinkled pseudotumors at sites of trauma
**problem with collagen synthesis

115
Q

cutis laxa (elastolyis) AKA

A

dermatochalasis

generalized elastolysis

116
Q

cutis laxa-clinical 2 types

A
  • internal organs involved in both (emphysema–>infant death, adult death in acquired)
    1) congenital occipital horn syndrome
  • wormian bones or lambdoidal suture and osteoporosis
  • deficiency in lysyl oxidase (mutation on 5q)
  • GI diverticula or bladder
  • rectal prolapse
  • hernias
  • AR
    2) acquired
  • 50% preceded or accompanied by urticarial, plaque, or vesicular cutaneous eruption

*diminished elastic fibers

117
Q

pachydermoperiostosis-clinical

A
  • idiopathic (AD, men>F)
  • acquired (2/2 lung carcinoma)
  • clubbed digits (periosteal proliferation of hands/feet bones)
  • hyperplasia of soft parts of forearms and legs (periosteal prolife)
  • thickening and furrowing of skin of face and scalp (cutis verticis gyrata)
118
Q

urticaria pigmentosa (mastocytosis)-inheritance

A

-AD, KIT mutation, usually no family hx

119
Q

urticaria pigmentosa-4 subtypes

A

1) arising in infancy or early childhood without significant systemic lesions
2) arising in adolescence of adulthood without systemic
3) systemic mast cell disease
4) mast cell leukemia

120
Q

incontenentia pigmenti-genetics

A
  • x-linked dominant
  • heterozygous women mild, men severe–XY men usually die in utero
  • classical IP2 on Xq28 region, mutation in IKK gamma gene, NEMO complex
121
Q

incontinentia pigmenti-clinical

A

-4 stages
1) erythema and bullae in lines-present at birth or shortly after
mostly ext. +peripheral eosinophilia
2)2 months-turns into verrucous lesions, last several months
3)pigmentation at prior areas of involvement, esp trunk. fades after several years
4)adult females-subtle, faint, hypochromic or atrophic lesions in lear patter, esp on lower ext

-80% assoc with CNS abd, eyes, teeth abn. partial alopecia at vertex

122
Q

hypomelanosis of ito-genetics

A

-X/autosome translocation Xp11

123
Q

hypomelanosis of ito-clinical

A
  • may be present at birth, usually within 1st year of life
  • hypopigmentation more pronounced earlyier in life, followed by partial repigment
  • mostly on trunk
  • congenital abn in 50%, MR, seizures, abn of eyes, hair, teeth, MSK

Lever's (1 decks)

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