Dx of the Connctive Tissues Dan Flashcards

1
Q

What is follicular atrophoderma?

A

Dimple-like ice pick depressions at follicular orifices from birth or early life backs of the hands and feet and cheeks and sometimes in the elbow region can be isolated or part of syndrome syndrome
associations;
1. Palmoplantar hyperkeratosis, follicular keratosis, or palmoplantar hyperhidrosis
2. Bazex syndrome (Bazex-Dupre-Christol)
3. Conradi hunerman syndrome

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2
Q

What is Spontaneous atrophic scarring of the cheeks?

A
Probably AD disease
spontaneous scarring of cheeks in childhood
linear/square/varioliform
No trauma/acne/inflammation prior
asymptomatic/ slight itch
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3
Q

What is vermiculate atrophoderma?

A

childhood onset, progressive
inflamed follicular plugs on cheeks leading to cribriform/worm-eaten (vermiculate) atrophy
Part of keratosis pilaris atrophicans syndrome or Rombo syndrome

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4
Q

What are the DDs for scarring of the cheeks in kids?

A

Spontaneous atrophic scarring of the cheeks
Vermiculate Atrophoderma
Follicular atrophoderma
Lipid proteinosisEPP (porphyria)
Hyper IgE syndrome (Job syndrome) – pitted scarring on face
Hydroa vacciniforme (inflammation with sun exposure before scarring)
Varicella scars, juvenille acne scars
DA

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5
Q

What is congenital Cutis laxa?

A

Lax pendulous skin w/ loss of elastic tissue in dermis
AD (presents later):
ELN(elastin) or FBLN5 (fibulin5)
AR (more common but more severe) - 3 types;
FBLN4 or 5 (type 1) or loss of functional mutations proton ATPase (type 2)
De Barsey syndrome (type 3)
Occipital Horn syndrome - rare X-linked type

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6
Q

What are the types of Keratosis Pilaris atrophicans?

A

Keratosis pilaris atrophicans faciei (bearded face)
Erythromelanosis follicularis faciei et colli (face and neck)
Ulerythema ophryogenes (eyebrows)
Keratosis follicularis spinulosa decalvans (scalp)
Atrophoderma vermiculata (cheeks)

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7
Q

What is Conradi Hunerman Happle syndrome?

what is the gene and inheritence?

A
CDPX2 gene XLD, affects females
(Conrad Doesnt Play Xylophone 2)
SAD FACE
Short stature + scoliosis
Assymetrical cataracts
Dysmorphic face – frontal bossing and macrocephaly
Follicular atrophoderma
Alopecia
Chondrodysplasia punctata – resolves by 2-5 years
Erythroderma
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8
Q

What is Bazex-Dupre-Christol syndrome?

A

Follicular atrophoderma-BCC syndrome
BAZEX MGF
BCCs - esp on face
Atrophoderma - follicular, of extremeties
Zero sweat - hypohidrosis above neck
Empty follicles - scalp hypotrichosis in males
X-linked dominant (males + females affected)
Also;
Milia
Genital trichoepitheliomas
Facial hyperpigmentation

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9
Q

What are features of Atrophoderma of Pasini and Pierini?

A

Young women
Brown/blue depressed round/oval patches usually on the back
Can be chest/ arms/ abdomen; spares acral sites
‘Cliff drop’ 1-8mm from normal skin
NO erythema/lilac edge, NO induration
Linear variant; Linear atrophoderma of Moulin
Slowly extend in size and number for 10yrs then stabilize and persist
Benign condition, asymptomatic
cause unknown
mooted assoc w/ Lyme borreliosis

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10
Q

What is Rx of Atrophoderma of Pasini and Pierini?

A

No proven treatment but PUVA has helped
some people Rx with penicillin/ tetracycline given Borrelia association
HCQ or Q-switched laser have had positive case reports

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11
Q

What is histo of Atrophoderma of Pasini and Pierini?

A

Oedematous and clumped collagen in lower dermis initially; later oedema subsides
Can be increased basal layer pigmentation
Perivascular infiltrate of macrophages and T-lymphocytes
IMF shows IgM and C3 in dermal blood vessels
Eventually epidermal atrophy
Normal elastin

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12
Q

What is Acrodermatitis Chronica Atrophicans?

A

Late manifestation of Lyme borreliosis
Insidious onset of painless dull red nodules or plaques on the extremities (acro=acral), which slowly extend centrifugally leaving areas of central wrinkled atrophy and can be dyspigmentation or scale
May be pain, itch, numbness, hyperaesthesia
Due to Borrelia afzelii - N and C Europe, Italy and the Iberian Peninsula (rare in UK and USA)

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13
Q

T/F

Panatrophy means thinning of the dermis and epidermis

A

False
Means atrophy of dermis + SC fat +/- deeper structures (muscle and bone)
may be due to neurological defect of sympathetic nervous system
NB In cutaneous and panatrophy there may or may not be epidermal atrophy
Panatrophy Includes;
Local Panatrophy
- Gower or Sclerotic
- Parry-Romberg’s syndrome

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14
Q

What are causes of Generalised cutaneous atrophy?

A

Aging
RA
steroids

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15
Q

What are causes of Localised cutaneous atrophy?

A
Poikiloderma - congenital and acquired causes
Atrophic scars - Varicella, LE, TB, deep fungal, Syphylis, ILCS, XRT
Striae distensae
Anetoderma-primary or secondary
Acrodermatitis chronica atrophicans
Follicular atrophoderma
Vermiculate atrophoderma
Atrophoderma of Pasini and Pierini
Atrophic naevi
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16
Q

What is Panatrophy of Gower?

A

V rare condtion
Affects women in teens-30s
No preceding inflammatory sclerotic process
Back/buttocks/thighs/upper arms.
Irreg shape, develops in few wks then stays unchanged
DDx panniculitis

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17
Q

What is Sclerotic panatrophy?

A

Rare condition
sclerotic change precedes development of panatrophy
Linear band develop along limb or surround limb or trunk
Usually solitary
stop progression after few mths

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18
Q

T/F

Progressive Hemifacial Atrophy (Parry-Romberg’s syndrome) is the same as en coup de sabre

A

False
In Parry-Romberg there is little/no sclerosis of skin and skin is not bound down although it is atrophic
En coup de sabre usuallly limited to forehed and adjacent scalp and is limited to the skin
but can have en coup de sabre as well as Parry-Romberg
Most think these 2 are on a spectrum

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19
Q

T/F

Progressive Hemifacial Atrophy (Parry-Romberg’s syndrome) affects F>M

A

True
3x more females
NB en coupe de sabre also affects 2-3x more females

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20
Q

What are the features of Progressive Hemifacial Atrophy (Parry-Romberg’s syndrome)

A
Starts under age 20
Hyper/hypo pigmentation in irreg patches on cheeks, forehead and lower jaw
May start w/ muscle spasms or neuralgia
progressive atrophy ensues for months
Can have hair loss
heterochromia irides in 5%
Variety of neurological signs - Horner’s most common, Epilepsy
Can be localised to 1 division of trigeminal or involve whole side of face w sharp midline demarcation. Rarely bilat, or may involve ipsilat body
Rx
MTX +/- pred
PUVA
surgery
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21
Q

What is sclerotylosis/ Huriez syndrome?

A

Some People Hurry
diffuse Scleroatrophy of the hands
mild PPK
Hypoplastic nail changes
Increased risk of skin SCC and bowel cancer
Scleroatrophy is like sclerodactyly but no Raynauds
Nail changes include prominent lunulae, elongated cuticles, longitudinal and transverse ridging, increased longitudinal curvature and V shaped notches
Acitretin may help

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22
Q

What are the congenital causes of poikiloderma?

A

Werners
Blooms
Rothmund-Thompson
Dyskeratosis Congenita
Kindler syndrome
XP
Trichothiodystrophy (photosensitive type; PIBIDS)
Hartnup disease
Mendes da Costa syndrome (erythrokeratoderma variabilis)
Hereditary acrokeratotic poikiloderma of Weary (one family described only)
Hereditary sclerosing poikiloderma of Weary
Degos –Touraine syndrome
Neutral lipid storage disease

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23
Q

What is Degos –Touraine syndrome?

A

Incontinentia pigmenti with poikiloderma and GI symptoms

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24
Q

What are the acquired causes of poikiloderma?

A
Poikiloderma of Civatte
Dermatomyositis
Cutaneous lupus
LP
Systemic sclerosis
MF
Poikiloderma with neutropenia (syndrome)
Pre-lymphomatous poikiloderma (chronic superficial scaly dermatosis that has developed atrophy and reticulate pigmentation)
Chronic cold or heat exposure
XRT
Acrodermatitis chronica atrophicans
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25
What is the classification of causes of elastolysis (loss of elasticity)?
Generalised elastolysis - congenital cutis laxa; AD, AR (3 types), X-L - assoc w/ inherited disease; PXE, SCARF - acquired Localised elastolysis Variants of elastolysis/anetoderma
26
What are the acquired causes of Generalised elastolysis (acquired cutis laxa)?
``` CHiKEN SOUP With Lyme Complement deficiency High fever (febrile illness) Klippel Trenaunay Erythema multiforme Neoplastic such as Myeloma SLE/ Sarcoid/Syphillis/Systemic amyloid, Rheumatoid A Oedema / Angio-oedeam Urticaria Penicillin allergy or other drug allergy/ pseudo-PXE With - Wilson's disease Lyme disease - Acrodermatitis chronica atrophicans ```
27
Which inherited conditions feature Generalised elastolysis? (other than congenital cutis laxa syndromes)
``` PXE SCARF Costello’s syndrome Geroderma osteodysplastica NB the recessve and XL variants of congenital cutis laxa feature systemic features as well as skin disease but are considered variants not separate diseases like those listed above ```
28
What are the causes of localised elastolysis?
``` Anetoderma Blepharochalasis Acrodermatitis chronica atrophicans Granulomatous slack skin Mid dermal elastolysis post inflammatory elastolysis and cutis laxa elastic tissue naevi ```
29
what is anetoderma?
Focal dermal defect of elastic tissue Circumscribed, 1-2cm areas of flaccid skin, which may be elevated, macular or depressed Trunk/thighs/upper armsfine, irregular, twisted elastic fibres but no elastorrhexis (fragmentation) Can be primary or secondary Primary - Inflammatory and non inflammatory types - Cause unknown Secondary - Due to an underlying disease but doesn’t always develop at site of dermatosis - Assoc w/ antiphospholipid abs
30
what are the causes of secondary anetoderma?
PAP PUDDLES Penicillamine Acne Pityriasis versicolor + staph, VZV, TB, Lyme Dx(ACA) Pilomatrixoma Urticaria Pigmentosa DLE, SLE, CCLE(profundus/discoid) with C2 def, aPLS Dermatofibroma, neurofibroma, involuted IH Leprosy, Lymphoma, MF Electrode attachment + other perinatal injuries Sarcoidosis, Syphilis - occurs with secondary, latent, congenital or tertiary syphilis.
31
What are the features of primary anetoderma? | What is the Rx?
F 20-40yrs Crops of 0.5-1cm erythematous macules develop on trunk, thighs and upper arms, occasionally elsewhere Macules enlarge for short time then flatten and wrinkle can be grey, white or blue in colour 5->100 lesionsmay develop new lesions for years Lesions may coalesce resembling cutis laxa Examining finger can sink into distinct pit w/ sharp borders w/ buldge reappearing when pressure is released Cannot treat medically when established try to slow progression with Penicillin and ε(epsilon)-amino caproic acid or colchicine
32
What is Blepharochalasis?
Laxity of eyelid from defect in elastic tissue, cause unknown Usually sporadic, can be AD Develops at puberty
33
What is Mid-Dermal Elastolysis?
Widespread wrinkling of the crinkle type involving the entire skin surface of young to middle aged women, usually middle aged Caucasian discrete perifollicular papules Selective band like loss of elastic fibres in mid dermis on van Gieson stain Normal elastic fibres in rest of dermis Preservation of elastic tissue around hair follicles - gives perifollicular papules Triggers may include - UVR, AI-CTD, pregnancy, OCP, insect bites and Lyme Borreliosis No effective Rx
34
What are the features of PXE? | What is the gene and inheritence?
ARABCC6 gene on Chr 16 Calcium accumulates in elastic fibres of skin + tissues skin changes often present in childhood CHICS (skin looks like chicken skin) Comets, Angioid streaks + peau d'orange of eyes Haemorrhage (upper GI bleed) Ischaemic heart disease Claudication (PVD) >age 30 Squeaky valves; MR/AR/ aortic dissection NB also; May get reticulate pigmentation on abdo acneiform lesions Usually arises before 30. Occasionally old age. Persists indefinitely Changes similar to skin occur on all mucosal surfaces Exaggerated horizontal or oblique mental crease pathognomonic finding Eye changes due to calcification of Bruch’s membrane of retina Risk of; Bleeding - GI, intracranial Miscarriage
35
What are the histopath features of PXE?
``` clumped, degenerate elastin fibres in mid-reticular dermis as seen on EVG stain calcium deposits (von kossa stain) ```
36
What is the work-up and management of PXE?
Can send for genetic testing for ABCC6 mutation Skin biopsy FBC, film, iron studies ELFTs Calcium, phosphate, Vit D Fasting lipids and BSL for CV risk Refer to ophth for fundoscopy Refer cardiology for coronary angiogram Consider; o Echoo Doppler legs vessels o CT head if neurology o FOBs, urine for blood There are complex diagnostic criteria - Major are clinical skin or histo criteria, eye criteria and genetic/FHx crieria 2 or more major criteria from different categries is enough for diagnosis Not much Rx for skin - low calcium diet may help; plastic surgery for most disfiguring Main management is appropriate referrals for monitoring and care - eye, cardiol, obstetric etc
37
T/F | UVA causes more solar elastosis than UVB
False | UVB more important
38
What is Digital Papular Calcific Elastosis (DPCE)?
acrokeratoelastoidalis marginalis collagenous and elastotic marginal plaques of hands Acquired papular eruption w/ keratoderma + changes in dermal connective tissue More often dominant hand Affects radial aspect of index finger, 1st web space + ulnar aspect of thumb can get SCC
39
What are the 3 histopathological zones of actinic granuloma?
External to annular lesion is solar elastosis Thickened annulus w/ histiocytic and giant cell infiltrate Central zone w/ little/no elastotic tissue remaining
40
what is the Rx of actinic granuloma?
Sun protection ILCS and tretinoin Isotretinoin/Acitretin has worked
41
What are the features of AR cutis laxa?
Characteristic facies “hound dog” – broad nose, sagging cheeks and large ears premature aged appearance vocal cord laxity (deep voice) Risk of death with pulmonary emphysema Herniae, diverticulae, osteoporosis, arotic aneurysm, dental caries
42
What is Ascher's syndrome?
blepharochalaxis + progressive enlargement of the upper lip due to hypertrophy and inflammation of the labial salivary glands May be excessive salivation
43
What are the features of Marfan's syndrome?
``` AD mutation in fibrillin-1 gene (FBN1) 30% new mutations MARFANS Mitral valve prolapsed, Myopia Aortic Regurge, Aneurysm, Dissection Retinal detachment Fibrillin gene, Chr Fifteen + PH(marPHan)- Pectus excavatum, High arched palate Arachnodactyly Negative Nitroprusside test (differentiates from homocystinuria), neural deafness (6%) Subluxated lens (Upward or up + lateral dislocation of Lens) Skin features - HESP Hyperexensible skin Elastosis perforans serpiginosa Striae atrophicae Papraceous scars ```
44
what is the management of a Marfans pt?
refer to cardio and ophthal Pregnancy unadvisable due to 50% risk of transmission and acceleration of CV disease and vascular rupture during pregnancy Genetic counselling Little skin Rx needed
45
What are the features of Ehlers Danlos syndrome - protein affected, genes, systemic features?
``` Heterogeneous group of defects in connective tissue Collagen mutations or proteins which interact with collagens Causes defective collagen network Elastic fibres are normal so skin is hyperextensible but has normal recoil 9 types - types 1-4 account for 60% of cases >40% are types 1 or 2 - collagen 5 mutations Most common types are AD Key features are; Soft, Hyperextensible skin Joint hypermobility easy bruising vascular pathology scarring and poor wound healing dental abnormalities common no mental problems ```
46
T/F | Molluscoid pseudotumours are typical of type 4 EDS
False Type 1 mainly blue grey spongy tumours of connective tissue occuring at pressure points fibrous capsule containing fat and mucoid material which can be calcified
47
What are the features of EDS types 1 and 2? | what are the genes and inheritence?
AD - Classical types of EDS allelic variants – different subunits of same gene affected Type 1 - Gravis = A1 region of collagen 5 (COL5A1) Type 2 - Mitis = A2 region of collagen 5 (COL5A2) account for 43% of EDS, Type II is milder soft velvety, hyperextensible skin easy bruising Wide atrophic scars; cig paper scars/sutures tear No striae in pregnancy piezogenic pedal papules Hyperextensible joints Spontaneous dislocations kyphoscoliosis Molluscoid pseudotumours, spheroids Facies - widely spaced eyes, wide nasal bridge, epicanthic folds, can be blue sclera Can have redundant palms/soles like a glove Later life get redundant skin folds esp blepharochalasis Poor muscle tone
48
What are spheroids?
small firm s/c nodules w/ calcification on X-ray on shins/forearms in one third of EDS pts
49
What are the features of EDS type 3? | what are the genes and inheritence?
``` Hypermobility EDS AD, some are collagen 3 mutations, some tenascin-X rest unknown accounts for 10% of cases, most benign Smooth, velvety skin Only min scarring Joint hypermobility +++ Some get dysautonomia – syncope, palpitations, fatigue ```
50
What are the features of EDS type 4? | what are the genes and inheritence?
Vascular EDS AD mutation in Collagen 3 (COL3A1) accounts for 6% of cases, rare, severe form Thin, translucent skin that show underlying vessels easy bruising (misdiagnosis child abuse) Scars and pseudotumours keloids Typical facies No/minimal Joint hypermobility or skin hyperextensibility often born prem and have short stature Get; Arterial aneurysms - dissection and rupture visceral rupture (bowel + uterus) pneumothorax Acrogeric type - premature aging w/ thin peaked nose and thin lips, hollow eyes Ecchymotic type - easy bruising predominates should avoid pregnancy, trauma, physical contact sports, and trumpet playing (raised ICP can trigger vascular rupture). Risk of sudden death from aortic dissection and rupture of colon and vessel perforation
51
What is the management of EDS?
Need to determine type as very different prognosis Identify clinical, biochemical and molecular abnormalities genetic counselling type VI may respond to Vit C – regulates collagen biosynthesis Type IV should avoid pregnancy, trauma, physical contact sports, and trumpet playing (raised ICP can trigger vascular rupture). Risk of sudden death from aortic dissection and rupture of colon and vessel perforation Try to manage bleeding conservatively, make surgeons aware Sutures will tend to pull out. Need to be buttressed. Arteriography also difficult, warn surgeons
52
What is the DIFFERENTIAL of elastosis perforans serpiginosa?
``` porokeratoses, reactive perforating collagenosis, perforating GA, tinea, sarcoidosis, actinic granuloma, perforating PXE, DLE ```
53
What is Occipital horn syndrome?
Used to be called EDS type 9 or X-linked cutis laxa Rare Low copper Same gene as Menkes syndrome Mild skin laxity and extracutaneous features
54
What are the features of Prolidase deficiency?
AR, rare inborn error of collagen metabolism Deficiency of Prolidase required to make collagen Chronic skin ulceration, mental retardation, and recurrent resp infections Abnormal facies (no characteristic pattern) Spongy fragile skin with pitting, scarring and ulceration. Also photosensitivity, telangiectasia, purpura, premature greying and lymphoedema Also splenomegaly, recurrent infections and obesity
55
What is SCARF syndrome?
``` Skeletal abnormalities, Cutis laxa, Craniostenosis, Ambiguous genitalia, Retardation Facial abnormalities ```
56
What is Pachydermoperiostosis?
Rare AD disease increased production of α1-procollagen Digital clubbing, cylindrical thickening of legs/forearms (due to tissue thickening) Hypohidrosis, seborrhoea, sebaceous gland hyperplasia, folliculitis results in thick, furrowed redundant skin on face and forehead/scalp (cutis verticis gyrata)(‘pachyderma’ = skin like pachyderms; elephant/rhino) symmetrical irregular periosteal ossification at distal ends of long bones on Xrays Can also get carpal and tarsal tunnel syndrome, chronic leg ulceration, and archilles tendon calcification
57
What are the associations of Cutis Verticus Gyrata?
``` Occurs in males mostly, onset at puberty esp common in aboriginals benign form without associations called 'essential type' Can be assoc w/ neurologic and/or ophthalmologic abnormalities Can be secondary phenomenon due to; Myxoedema Acromegaly Turner syndrome ```
58
What are the DDs of Cutis Verticus Gyrata?
``` Leonine facies - many causes Extensive congential cerebriform melanocytic naevus on scalp Pachydermoperiostosis Acanthosis nigricans Dissecting cellulitis of scalp ```
59
What are the diagnostic criteria for relapsing polychondritis?
3 or more of these features required to make diagnosis; Remember; 3-ENT-OVA Chondritis of ear, nose, throat(resp tract), Occular, vestibulocochelar, Arthritis; 1. recurrent chondritis of the pinna 2. chondritis of the nasal cartilage 3. chondritis of the larynx, trachea or respiratory tract 4. ocular inflammation 5. cochlear or vestibular lesions 6. non-erosive arthritis
60
What are the associations of relapsing polychondritis?
Autoimmune - RA, SLE, DM, Sjogren’s, Still’s, Ank spond, Crohn’s, Hashimotos thyroiditis, vasculitis, thymoma, psoriasis, glomerulonephritis Infections - HepC- HIV Malignancy - myelodysplasia, myeloma, lymohoma, leukaemia - Carcinoma of bladder, breast, pancreas, lung, colon
61
What are the skin complications of relapsing polychondritis?
``` Cutaneous and systemic vasculitis livedo reticularis neutrophilic dermatoses superficial thrombophlebitis toxic erythema oral and complex apthae papules, sterile pustules ulcerations Skin features of associated disease ```
62
What are the systemic complications of relapsing polychondritis?
Respiratory tract and/or costochondral joints (cough, hoarseness, choking, dyspnoea, wheeze, tender palpation of anterior neck) Larynx involvement may need tracheostomy Cardiovascular (aortic valvular inflammation (10%), AAA, myocarditis, pericarditis, MI) sudden valve rupture Neurological (headaches, nerve palsies, hemiplegia) Cerebral aneurysm Renal (glomerulonephritis) Joint pain (non-erosive arthritis) serous otitis media, Hearing loss (cochlear or vestibular lesions) Systemic vasculitis
63
What are the lab findings of relapsing polychondritis?
Histo; Areas of damaged cartilage (loses basophilic staining) separated by lymphocytic infiltrate with neuts and plasma cell Later, separated by granulation tissueo Perichondrial fibrosis in older lesions Anaemia High WCC Eosinophilia Raised ESR Can have +ve ANA, RF, cANCA↑ urinary excretion of acid mucopolyscacharides during each relapse (classical feature) Xrays – joint cartilage destruction without changes in adjacent bone
64
T/F | urine secretion of acid mucopolyscacharides is reduced during attacks of relapsing polychondritis?
False | Increased - classical feature
65
What is the significance of sparing of the earlobe in attacks of relapsing polychondritis?
Helps to differentiate from infection (celuliits)
66
What is the treatment of relapsing polychondritis?
Diagnose and Rx early to prevent deformity and complications Pred 30 mg reducing for relapses – slow wean as settles Indocid/dapsone/ Colchicine have been use for acute flares also IV cyclophosphamide for renal disease Many other immunosupressants 2nd line Must assess for associations and complications and investigate and refer as necessary
67
What is MAGIC syndrome?
Mouth and Genital Ulcers with Inflamed Cartilage | Combination Behcet’s + relapsing polychondritis
68
T/F | Striae are more common in Ehlers-Danlos syndrome
False | typically no striae even in pregnancy
69
T/F | Striae are more common in Marfans syndrome syndrome
True
70
What is Linear atrophoderma of Moulin?
V rara Linear blaschkoid atrophoderma May be variant of Atrophoderma of Pasini and Pierini - Pigmented bands of atrophy on trunk and limbs in Blaschko’s lines - starts in adolesence - No prior inflammation - No subsequent scleroderma - self limiting - Normal or thickened collagen bundles on histo
71
What are the causes of panatrophy?
Panatrophy of Gower - No assoc sclerotic processes | Sclerotic panatrophy - morphea/sclerotic change preceding atrophy
72
What are the features of congenital cutis laxa (generalised elastolysis)
``` AR or AD mutations in elastin or fibulin5 HALF BED Hernias Aged appearance (premature aging) Loose redundant pendulous skin folds Facies - Hound dog-like Bladder and Bowel diverticulae Emphysema (adults) or hypoplastic lungs (neonates) Deep voice (vocal cord thickening) Prognosis mainly depends on lung disease - usually normal life span ```
73
What are Fibromatoses? | what is the classification?
Benign proliferations of fibrous tissue, fibroblastic cells or spindle-shaped stromal cells with varying degrees of aggressive behaviour Part way between a benign fibroma and metastasizing fibrosarcoma Does not include reactive fibrous overgrowth or keloids 2 major groups; o Superficial: Palmar (Dupuytrens), plantar, penile (peyronies) and knuckle pads o Deep: Deep fibromatoses AKA Desmoid tumours (non metastasizing fibrosarcoma) – rapidly growing tumours with a tendon-like consistency which involve muscle and aponeuroses
74
What are the associations of Dupuytrens contracture (Palmar fibromatosis)?
``` Diabetes alcoholic cirrhosis epilepsy COPD gout trauma ulnar nerve damage Drug - phenytoin Can be inherited in AD fasion Can be part of polyfibromatisis syndrome - 5% have Dupuytrens ```
75
What is Pachydermodactyly?
Benign fibromatosis on fingers of young males, rarely females Symmetrical swelling of dorsal+sides of prox middle, ring and index prox phalanges Histo - collagen extension to SC tissues, epiderm hyperplasia, dermal thickening
76
What are the types of Juvenille Fibromatoses?
``` Juvenile hyaline fibromatosis Fibrous harmatoma of infancy Infantile myofibromatosis Infantile digital fibromatosis Calcifying aponeurotic fibroma Giant cell fibroblastoma ```
77
What is Juvenile hyaline fibromatosis?
AR Disorder of glycosaminoglycan synthesis Most frequent fibromatoses in childhood hyaline accumulation in dermis Most commonly affected sites are head, neck and trunk skin papules/tumours, gingival enlargement, osteolytic lesions (in 50%), jt contractures, poor musculature Joint contractures - disabling More severe systemic form gets internal organ involvement and early death Normal intelligence
78
What is Fibrous harmatoma of infancy?
Rare tumour of children esp under 2 yrs Probably neoplastic rather than hamartoma Benign, fibroblastic/myofibroblastic deep dermal and subcut tumour Asymptomatic, solitary, skin coloured plaque or nodule. Few cm diameter Rarely pigmented or hairy Axilla, arm or shoulder girdle Tumour has 3 distinct pathological components; 1. Bundles of interlacing, elongated, wavy spindle cells in variable collagenous b/g. 2. Nests of more immature round cells associated with focal myxoid change 3. Mature adipose tissue
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What is Infantile digital fibroma(tosis)? On what digits does it occur?
AKA Inclusion body (digital) fibromatosis A benign fibro/myofibroblastic proliferation with round pink intracytoplasmic inclusions. Present at birth or develops in infancy Almost always on fingers and toes esp 3-5th digits, never on thumb or great toe. Multiple small nodules. Observe or excise if bothersome
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what is Nodular fasciitis?
Common condition Rapidly enlarging subcutaneous nodule; can be in fascia or muscle M=F, any age often young adults Tender mass on UL> trunk> H&N can be in mouth or orbit Histo shows; Bundles of uniform fibroblasts and myofibroblasts which have pink cytoplasm, vesicular nuclei and a small nucleolus. In a vascular stroma Many mitoses but no abnormal mitoses Stroma shows myxoid change and mucin deposition – has ‘tissue culture-like’ appearance Often hyalinised collagen bundles which may look keloidal May be multinucleated giant cells which resemble osteoclasts. Usually excised
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What are Infantile Stiff Skin Syndromes?
Group of rare syndromes w/ hard stiff skin and joint contractures starting in childhood Systemic hyalinosis Winchester’s syndrome (Still’s dx w/ stiff skin + cataracts) Congenital fascial dystrophy (AKA stiff skin syndrome) Restrictive dermopathy
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What are the risk factors for Keloid scarring?
Age (peak between puberty and 30) Race (B>W), Afro Caribeans Sites = ear lobes/ shin / neck/ shoulders/ upper trunk/ LL and sites that stretch Mechanism of injury; burns, scalds Infected wound Foreign material = sutures/ endogenous hair Scarring acne on back FHx Recent Roacutane + laser Polyfibromatosis syndrome = Dupuytren’s Other associations; acromegaly, post thyroidectomy, Dubowitz, Rubinstein-Taybi, EDS, pachydermoperiostosis Linear keloids in athletes taking anabolic steroids Keloid scarring can be triggered by pregnancy Spontaneous keloids - presternal region of chest, probably micotrauma. Can be seen in in syndromes; rubinstein-taybi, noonan and Dubowitz, Goeminne
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What are the key features of Keloid scarring?
extends beyond the defect does not regress spontaneously grows in a pseudotumor fashion with distortion of lesion tends to recur after excision Often painful and hyperaesthetic
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What are the clinical and histo DDs for Keloid scarring?
``` Clinical; sclerotic BCC sarcoid DFSP DLE blastomycosis lobomycosis fibrosarcoma (rare) Histo; Dermatofibroma DFSP desmoplastic melanoma ```
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What is the treatment for keloids?
``` Potent TCS under occlusion 20% silicone gel - for small lesions and for prevention Adjuvant XRT after surgery is the most effective - superficial XRT or electrom beam Local compression ILCS +/- prior LN2 cryo intralesional 5FU LN2 cryotherapy topical retinoids Laser - PDL, others have been used too IFN alpha ```
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What are the causes of premature aging appearance?
Classic inherited premature aging syndromes Congenital progeroid syndromes Photosensitivity syndromes Diseases causing elastolysis (cutis laxa group) e.g. De Bersey syndrome Fragile skin e.g. prolidase deficiency Thickened immobile skin e.g. diabetic cheiroarthropathy Loss of SC fat e.g. generalised lipodystrophy Diabetes Generalised cutaneous atrophy – RA, steroids Excessive exposure to radiation (UV) Smoking
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What are the 3 classicial inherited premature aging syndromes?
Pangeria (Werner's) Progeria (Hutchinson-Gilford syndrome) Acrogeria (Gottron syndrome)
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What are congenital progeroid syndromes?
``` Syndromes other than classical premature aging syndromes which show some features of premature aging (not due to photosensitivity alone); WONDA MADA Wrinkly skin syndrome Osteodysplastic geroderma Neonatal pseudohydrocephalic progeroid syndrome Downs Acrogeric Type 4 EDS Mandibulo-acral dysplasia (MADA) ```
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What are the photosensitivty premature aging syndromes?
``` Bloom syndrome Rothmund-Thomson syndrome poikiloderma congenitale XP Cockayne syndrome ```
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What are the features of Progeria?
``` aka Hutchinsons-Gilford syndrome LMNA gene Small stature, mid facial cyanosis, bird like facies, prominent frontal tuberosities and scalp viens. Dry, thin and wrinkled with mottled hyperpigmentation. Hair loss in first 2 years of life No photosensitivity CVS - atheroma ```
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What are the features of Acrogeria?
=Gottrons COL3A1 Micrognathia; atrophy of skin on tip of nose Atrophic with telangiectasia and mottled hyperpigmentation on extremities. No leg ulcers, atheroma, DM, decreased life expectancy Hair and eyes normal
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What are features of Pangeria?
``` Werner's syndrome RecQ DNA helicase 2 gene defect (WRN gene) AR Small stature - Cessation of growth at 12y Beaked nose Skin of ears strophic and bound down Photosensitvity Skin is dry; Thick dermis, atrophic epi w/ poikiloderma Hair shows Premature greying @ 20y Hair loss @ 20-30 Bilateral cataract @ 20-30y, Keratopathy, Glaucoma Nails are normal Joint contractures Lower limb ulcers Hyperkeratosis over bony prominences Loss of SC fat Malignancy risk ++ Life expectancy 30-40y Die of severe atheroma ```
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Diagnostic criteria of PXE?
Dx: 1 major from 2 systems Probable: 2 major from same cat or 1 major + 1 minor from another category Major: 1) Skin yellow papules/plaques neck or body,Or bx with histo changes from affected skin 2) Eye: angioid streaks Or peau d'orange 3) Genetics: mutation of both alleles of ABCC6, Or 1st degree relative Minor: 1) eye: 1 streak shorter than 1 disk Diameter, comets in retina, 1 or more wing signs 2) Genetics: 1 allele mutation
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What are the types of perforating dermatoses?
Congenital/inherited - Familial Reactive perforating collagenosis (collagen fibres perforate) - Elastosis perforans serpiginosa (EPS) (elastic fibres perforate) Acquired - Acquired (reactive) perforating dermatosis (collagenosis) - Kyrles disease - Perforating folliculitis Secondary - Transepithelial elimination (TEE) seen incidentally as part of another dermatosis - TEE of substance secondary to an exogenous agent. E.g. Ca containing EEG paste, ILCS injections
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What are the features of Kyrle’s disease?
perforating disease in adults (30yrs) perforation of collagen fibres acquired, and often idiopathic or assoc w/ hepatic/renal/diabetic disorders Keratinous red/brown papules/nodules w central keratin plug Can coalesce forming large keratotic plaque Legs/arms/head/neck Can be asymptomatic or intensely itchy
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What are the features Acquired (reactive) perforating dermatosis?
Largely same as Kyrles Affects 10% of ESRF pts - consider in these pts who are very itchy Also in diabetics and rarely liver disease or internal malignancy Can be perforation both collagen and elastic fibres Rx with topical C/S, ILCS, topical retinoids PHOTOTHERAPY most useful option - can help w renal itch too change dialysis tubing Allopurinol has been used successfully
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What are the features of Inherited reactive perforating collagenosis?
affects children papules on prominences after superficial trauma - koebnerising small lesions enlarge to 5mm over few weeks keratinous umbilicated plug - bleeds if removed can be precipitated by cold, improves in warm weather persists into adulthood usuallly no Rx required
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what is perforating folliculitis
type of folliculitis on trunk and extremeties in young adults papules with keratinous plug that exude necrotic material cause unknown ??overlap with pityrosporum folliculitis
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What is Elastosis perforans serpiginosa?
arcuate/serpiginous slightly erythematous flesh coloured keratotic papules on the upper trunk, face or limbs of young adults (M>F) Genetically determined defect of elastic tissue Extrusion of elastic fibres at sites of wear/may follow abrasion Idiopathic or assoc w/ CTD or drug flesh coloured, red, umbilicated papule 2-3mm with central, tightly adherent plug that bleeds if removed nape/ sides of neck/ Upper armscan be itchyhigh risk of keloids when biopsied
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What are the associations of Elastosis perforans serpiginosa?
``` A DERM POP Acrogeria Down’s syndrome EDS Rothmund-Thomson Marfans PXE Osteogenesis imperfecta Penicillamine: produces abnormal elastin. (Disrupts desmosin cross links within elastin) ```
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What is the histology of Elastosis perforans serpiginosa?
claw like epidermal down growths surrounds basophilic debris, fibrin, inflammatory and granulation tissue epidermis hyperplastic and acanthotic plug of crusting/ HK and variable PK aggregates of Neuts or Lymphocytes within plugs is horny material in upper 1/3, amorphous debris in lower 2/3 Foreign body giant cell rxn underlying plug brightly eosinophilic elastic tissue +++ in sup dermis Van geison stain = black
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What is the treatment of Elastosis perforans serpiginosa?
``` Cryo good Currettage and cautery NB; TCS under occlusion not very effective Caution w/ Electrosyrgery/ dermabrasion/ surgery - risk of keloids!! - best avoid these modalities Retinoid for widespread EPS cellotape stripping aggressive rx may result in scarring, be careful spontaneously resolve anyway ```
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What is colloid millium?
degenerative change of elastic fibres w/ yellowish/translucent papules/plaques on light exposed skin
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What are the types of colloid millium?
``` Juvenile prior to puberty, often familial On face, small lesions Adult sun-exposed areas, lesions are larger Nodular type Drug-induced type - phenol in oils or hydroquinone ```
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What is the histology of colloid millium?
Colloidal material (usually eosinophilic) in dermal papillae Bands collagen surrounding the colloid globules Fibroblasts and small blood vessels preserved in colloid material Spares adnexae May be a Grenz zone Overlying compact orthokeratosis
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What is the treatment of colloid millium?
Dermabrasion Ablative laser Can also try diathermy or cryotherapy
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What is White fibrous papulosis of the neck?
Asympotatic small white fibrous papules around the neck esp to middle aged and elderly men Bundles of thick collagen fibres in dermis No significance
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What is Papular elastorrhexis?
Rare type of connective tissue naevus Adolescents or young adults Multiple oval white/yellow papules on trunk or limbs Non follicular based Reduced dermal elastic fibres Overlap w/ skin lesions of Buschke-Ollendorf
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What are Constricting bands of the extremities (Ainhum and pseudoainhum)
Constricting band around digit/limb Can be shallow/involving skin, or deeper involving fascia/bone -  may autoamputate digit/limb Anhinum (African means saw) affects 5th toe in black africans Related to underlying abnormalities in blood supply (plantar arch) precipitated by mechanical trauma like walking May be related to infection like leprosy/Tb Pseudo-anhimun and other constricting bands May be congenital due to amniotic bands or acquired due to trauma, cold, neuropathy, PSS, Vohwinkels, Pachyonychia congenita, EPP, Olmsted’s
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T/F | Regarding Ehlers-Danlos Syndrome, it occurs in almost 1 in 5000 persons
True
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T/F | Regarding Ehlers-Danlos Syndrome, it is most commonly autosomal recessive
False | AD
112
T/F | Regarding Ehlers-Danlos Syndrome, molluscoid pseudo tumours present on the flexor surfaces of joints
False | extensor surfaces
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T/F | Regarding Ehlers-Danlos Syndrome, skin tears rather than stretching
False
114
T/F | Regarding Ehlers-Danlos Syndrome, spheroids occur at sites of recurrent trauma
True