1
Q
ichthyosis vulgaris mutation/inheritance
A
filaggrin mutation–defective/abnormal synthesis of filaggrin, AD inheritance
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
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)
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”
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
6
Q
X-linked ichthyosis inheritance/genetics
A
- x-linked recessive. 90% gene deletion
- absence of steroid sulfatase activity
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
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”
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
10
Q
epidermolytic hyperkeratosis (EHK) inheritance
A
-AD
11
Q
EHK synonym
A
bullous congenital ichthyosiform erythroderma
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
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
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)
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
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
17
Q
CHILD syndrome clinical
A
- starts at birth
- unilateral ichthyosiform erythroderma
- ipsilateral underdevelopment of limbs
18
Q
CHILD syndrome mnemonic
A
Congenital Hemidysplasia with Ichthyosiform erythrodermal and Limb Defects
19
Q
CHILD syndrome genetics
A
- x-lined dominant defect–lethal in hemizygote maale fetus
- all cases females
20
Q
CHILD syndrome pathogenesis
A
- peroxisomes abnormal in fibroblasts
- mutations in genes encoding enzymes that convert lanosterol to cholesterol
21
Q
CHILD syndrome path
A
- thickened epidermis
- pronounced hk
- prominent parakeratotic foci
22
Q
Harlequin ichthyosis clinical/inheritance
A
- usually fatal
- starts at birth-thick, horny cuirass (armor) with deep fissures
- marked ectropion, eclabium
- AR inheritance
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
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
25
Erythrokeratodermia variabilis clinical/inheritance
- 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
26
Erythrokeratodermia variabilis-path
nonspecific
- in hk plaques: hk with mod papillomatosis and acanthosis
- normal granular
27
Erythrokeratodermia variabilis-pathogenesis/genetics
- normal proliferation (tritiated thymidine)
- hk due to decreased shedding of horny cells (retention)
- mutations of gjb3, gjb4, affecting connexins 31 and 30.3
28
ichthyosis linearis circumflexa-inheritance/clinical
- 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
29
ichthyosis linearis circumflexa hair anomaly
-trichorrhexis invaginata as part of Netherton's syndrome
30
ichthyosis linearis circumflexa-path
- 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)
31
Sjogren-Larsson syndrome
- lamellar ichthyosis
- mental retardation
- spastic paresis
- fibroblasts and leukocytes deficient in activity of fatty alcohol and NAD oxidoreducatse
- gene defect in FALDH
32
Rud's syndrome
- generalized ichthyosis
- hypogonadism
- mental deficiency
- epilepsy
33
Conradi-Hunermann syndrome
- 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
34
Netherton's syndrome
- ichthyosis linearis circumflexa (or less commonly lamellar ichthyosis)
- predisposition to atopic dermatitis
- tricorrhexis invaginata
35
IBIDS syndrome
- Ichthyosis
- Brittle hair
- Impaired intelligence
- Decreased fertility
- Short stature
36
PIBIDS syndrome
- Photosensitivity
- Ichthyosis
- Brittle hair
- Impaired intelligence
- Decreased fertility
- Short stature
37
KID syndrome
- Keratitis
- Ichthyosis
- Deafness
38
neutral lipid storage disease
- ichythyosis
- cataracts
- deafness
- ataxia
- lipid droplets in circulating cells
39
multiple sulfatase deficiencies
- ichthyosis
- neurodegeneration
- organomegaly
- skeletal dysplasia (including steroid sulfatase deficiency)
40
Refsum's syndrome-inheritance/clinical
- AR inheritance
- generalized ichthyosis
- cerebellar ataxia
- progressive paresis of the extremities
- retinitis pigmentosa
41
Refsum's syndrome-path
- hk
- hypergranulosis
- acanthosis
- basal/suprabasal cells: vacuoles with lipids
42
Refsum's syndrome-genetics
- mutations in phytanol-CoA hydroxylase gene
- deficiency of alpha-phytanic acid alpha-hydroxylase
- accumulation of phytanic acid
43
keratosis palmaris et plantaris-subtypes and inheritance
- 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
44
keratosis palmaris et plantaris of Unna-Thost-clinical
-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
45
Epidermolytic keratosis palmaris et plantaris-clinical/path/genetics
- 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
46
keratosis palmoplantaris punctata (or papulosa)-clinical
-multiple keratotic plugs
- path: massive HK over sharply limited area with underlying depression of malpighian layer
- increased thickness of granular layer
- dermis normal
47
keratosis palmaris et plantaris of the Meleda type
- 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
48
Papillon-Lefevre syndrome
-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
49
Papillon-Lefevre syndrome-genetics
- 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
50
other syndromes in which keratosis palmaris et plantaris occurs
1) pachyonychia congenital
2) hidrotic ectodermal dysplasia
3) Richner-Hanhart syndrome associated with tyronsinemia (tyrosine tyrosinase on 16q22,1-q22.3)
51
acrokeratoelastoidosis-clinical/path/EM
- 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
pachyonychia congenital-clinical features/inheritance
-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
pachyonychia congenita-4 types
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
pachyonychia congenita-path
- nail bed: marked HK
- blisters beneath and around plantar callosities (no necrosis)
- intracellular edema and vacuolization
- oral: thickening of epithelium, extensive intracellular vacuolization
55
pachyonychia congenita-genetics
-mutations in K6b, K9, K16, K17 on chromosome 12q13 or 17q12-q21
56
dyskeratosis congenita-inheritance
- x-linked recessive (only in males)
| - (though can sometimes be AD, thus females can be affected)
57
dyskeratosis congenita-clinical triad
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
dyskeratosis congenita-path
- netlike pigmentation: melanophages in upper dermis
| - oral: SCCIS or SCC
59
dyskeratosis congenita-genetics
- 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
porokeratosis subtypes, inheritance
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
plaque type porokeratosis of mibelli
- single or few lesions, several cm
- raised border with furrow on top filled with keratotic material
- can peripherally extend
62
Disseminated superficial actinic porokeratosis
- 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
linear porokeratosis
- segmental or generalized
| - resemble linear verrucous epidermal nevus
64
porokeratosis plantaris, palmaris, et disseminata
- starts in adolescence of early adulthood
- many lesions on palms/soles
- later involves other body areas with numerous small lesions
65
punctate porokeratosis
- limited to palms/soles
- numerous 1-2mm seedlike keratotic plugs
- moderately tender
66
porokeratosis path
* 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
plaque type porokeratosis (mibelli) path
- -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
porokeratosis genetics
- overexpression of p53 tumor suppressor
| - clone of abnormal epidermal cells at base of parakeratotic column
69
xeroderma pigmentosum
- 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
XP path
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
XP genetics
- mutation leading to inadequate excision repair of DNA
| - deficient DNA-endonuclease
72
ectodermal dysplasia
abnormalities of hair, nails, teeth, sweat glands
2 types:
1)hidrotic
2)anhidrotic
73
hidrotic ectodermal dysplasia
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
anhidrotic ectodermal dysplasia
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
ectodermal dysplasia-path
anhidrotic-absence or severe hypoplasia of eccrine glands
76
focal dermal hypoplasia-genetics
x-linked dominant (lethal in homozygous males)
| -mtation in PORCN involved in wnt signaling
77
focal dermal hypoplasia-alternate name
Goltz syndrome
78
focal dermal hypoplasia-clinical
- 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
focal dermal hypoplasia-path
-dermis is hypoplastic-only a few collagen fibers separating epidermis and fat
80
aplasia cutis congenita-clinical
- localized absence of skin at birth
| - usually one or several ulcers on scalp (1-3cm), heal uneventfully or in utero
81
poikiloderma congenitale-another name
Rothmund-Thomson syndrome
82
poikiloderma congenitale-genetics
- AR
| - mutations in DNA helicase gene RECQLA on chr 8q24.3
83
poikiloderma congenitale-clinical
- 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
congenital telngiectatic erythema AKA:
Bloom's syndrome
85
congenital telangiectatic erythema-genetics
- AR
| - mutations in gene encoding DNA helicase RecQ protein like 2 on chr 15q26.1
86
congenital telngiectatic erythema-clinical
(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
ataxia-telangiectasia-genetics
- AR
- IgA/IgE deficiency
- chromosome breakage is ommon
- mutations in ATM gene (protein kinase) chr 11q22.3
88
ataxia-telangiectasia-clinical
- 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
progeria AKA
Werner's syndrome
90
progeria-genetics
- AR
- RECQL2 gene mutation leads to poor growth/decreased life span of cultured skin fibroblasts
- chr 8p12-11.2
91
progeria-clinical
- 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
epidermolysis bullosa-three types
- epidermal
- junctional
- dermal
93
EB path-how to bx
- bx edge of blister or induced blister
| - bx with shave? as torsion of punch can cause loss or separation of epidermis
94
EB path by type: epidermal, jxnl, dystrophica
epidermal: separation in basal layer
junctional: split between epidermis and dermis
dystrophica: dermal/epidermal separation
95
Epidermolysis bullosa acquisita-clinical
- 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
EBA pathogenesis
- subepidermal deposits of IgG and C3 on DIF
| - circulating antibodies vs IgG on IIF
97
familial benign pemphigus AKA
hailey hailey disease
98
hailey hailey-genetics
- AD
| - ATP2C1 mutation chr 3q21-q24 (ATP dependent calcium transport)
99
Hailey hailey clinical
- localized recurrent small vesicles on erythematous base
- circinate configuration
- intertriginous, esp axillae and groin. rare mucosa
100
hailey hailey path
- 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
keratosis follicularis AKA
Darier's disease
102
Darier's disease-genetics
-ATP2A2 mutation on chr T2--sarcoplasmic/endoplasmic reticulum calcium pumping ATPase SERCA2 on gene 12q23-24
103
Darier's disease-clinical
- persistent, slowly progressive eruption of hyperkeratotic or crusted papules showing follicular distribution
- papules can coalesce to plaques
- seborrheic areas
- occ oral involvement
104
Darier's disease subtypes
- hypertrophic
- vesiculobullous
- linear or zosteriform
105
Darier's disease-path
- 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
acrokeratosis verruciformis of hopf-clinical
- AD
| - flat, hk, occ verrucous papules on distal extremities, esp dorsa of hands and feet
107
acrokeratosis verruciformis of hopf-path
- hk, increased granular layer, acanthosis
| - slight papillomatosis
108
pseudoxanthoma elasticum-genetics
- 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
pseudoxanthoma elasticum-clinical
- 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
connective tissue nevus
- 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
linear melorheostotic scleroderma
- linear hyperostosis of an extremity
- thickening and hypertrichosis of overlying skin
- start in infancy
112
winchester syndrome
- AR
- only in inbred kids
- dwarfism
- small joint destruction
- corneal opacities
- thickening and hypertrichosis of skin
- hypertrophic lips and gingivae
113
winchester syndrome-genetics
-mutations on MMP2 gene
114
ehlers-danlos syndrome-general characteristics
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
cutis laxa (elastolyis) AKA
dermatochalasis
| generalized elastolysis
116
cutis laxa-clinical 2 types
- 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
pachydermoperiostosis-clinical
- 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
urticaria pigmentosa (mastocytosis)-inheritance
-AD, KIT mutation, usually no family hx
119
urticaria pigmentosa-4 subtypes
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
incontenentia pigmenti-genetics
- 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
incontinentia pigmenti-clinical
-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
hypomelanosis of ito-genetics
-X/autosome translocation Xp11
123
hypomelanosis of ito-clinical
- 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
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