Dx of the Connctive Tissues Dan Flashcards Preview

Medical dermatology Dan > Dx of the Connctive Tissues Dan > Flashcards

Flashcards in Dx of the Connctive Tissues Dan Deck (114):
1

What is follicular atrophoderma?

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

2

What is Spontaneous atrophic scarring of the cheeks?

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

3

What is vermiculate atrophoderma?

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

4

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

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

5

What is congenital Cutis laxa?

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

6

What are the types of Keratosis Pilaris atrophicans?

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)

7

What is Conradi Hunerman Happle syndrome?
what is the gene and inheritence?

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

8

What is Bazex-Dupre-Christol syndrome?

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

9

What are features of Atrophoderma of Pasini and Pierini?

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

10

What is Rx of Atrophoderma of Pasini and Pierini?

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

11

What is histo of Atrophoderma of Pasini and Pierini?

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

12

What is Acrodermatitis Chronica Atrophicans?

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)

13

T/F
Panatrophy means thinning of the dermis and epidermis

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

14

What are causes of Generalised cutaneous atrophy?

Aging
RA
steroids

15

What are causes of Localised cutaneous atrophy?

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

16

What is Panatrophy of Gower?

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

17

What is Sclerotic panatrophy?

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

18

T/F
Progressive Hemifacial Atrophy (Parry-Romberg’s syndrome) is the same as en coup de sabre

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

19

T/F
Progressive Hemifacial Atrophy (Parry-Romberg’s syndrome) affects F>M

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

20

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

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

21

What is sclerotylosis/ Huriez syndrome?

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

22

What are the congenital causes of poikiloderma?

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

23

What is Degos –Touraine syndrome?

Incontinentia pigmenti with poikiloderma and GI symptoms

24

What are the acquired causes of poikiloderma?

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

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

79

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

80

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

81

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

82

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

83

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

84

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

85

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

86

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

87

What are the 3 classicial inherited premature aging syndromes?

Pangeria (Werner's)
Progeria (Hutchinson-Gilford syndrome)
Acrogeria (Gottron syndrome)

88

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)

89

What are the photosensitivty premature aging syndromes?

Bloom syndrome
Rothmund-Thomson syndrome
poikiloderma congenitale
XP
Cockayne syndrome

90

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

91

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

92

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

93

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

94

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

95

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

96

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

97

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

98

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

99

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

100

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)

101

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

102

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

103

What is colloid millium?

degenerative change of elastic fibres w/ yellowish/translucent papules/plaques on light exposed skin

104

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

105

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

106

What is the treatment of colloid millium?

Dermabrasion
Ablative laser
Can also try diathermy or cryotherapy

107

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

108

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

109

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

110

T/F
Regarding Ehlers-Danlos Syndrome, it occurs in almost 1 in 5000 persons

True

111

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

113

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