Connective tissue Flashcards
Which type of cutis laxa is better
presenting in adulthood (usually AD) , usually no internal defects, but can happen
ELN, FBLN5 genes
Achenbach’s syndrome
spontaneous onset of 1 or more painful haematomas in the fingers in a middle aged female. May be mistaken for easy bruising due to steroid atrophy.
Tx of actinic granuloma
IL CS
Acquired causes of poikiloderma
cold, heat or radiation.
Poikiloderma of civatte: similar reaction by photosensitizing chemicals in cosmetics.
LP, DM, LE, sclerosis, MF
Pangeria
=Werners
AR RecQL2, WRN gene
Greying at temples 14-18, atrophy of skin and loss of SC fat, bird like facies, sclerodactyly, high pitched voice, small staure, hypogonadal. DM in 30%, early cataracts
Malignancy risk: fibrosarcomas in 10%. Lower limb ulcers
Histology of cutis laxa
verhoeff van giesons stains - decreased or absent dermal elastic fibres. Remaining fibres are often clamped, short, granular and fragmented. EM is diagnostic with moth eaten elastic fibres
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
Evaluation of someone with cutis laxa
Developmental evaluation
LFTs/coags, serum Cu/ceruoplasmin to rule out occipital horn, serum Epp, Ana,alpha 1 antitrypsin,c3c4, tfts in newborns
Transferrin IEF, Apo C-III IEF to rule other related syndromes
Skeletal survey/dexa
MRI brain, EEG, rfts
Ophthal and cardiology consults
Types of Ehlers danlos
Classical (I &II old): Hypermobility (III): Vascular (IV) : Kyphoscoliosis (VIA) Musculocontractural (only in Bolognia) Arthrochalasia Dermatosparaxis (VIIC): Occipital horn syndrome (formerly a type of EDS or cutis laxa )
EPS treatment
Removal with curette under LA
Freezing
Excision should be avoided and dermabrasion may make it worse
skin features of EDS type I
soft, velvety and hyperextensible.
slow healing and cigarette paper scars of trivial wounds
molluscoid pseudotumours due to accumulation of connective tissue.
Smaller, firm subcutaneous nodules (spheroids) which have calcification on xray develop on the shins and forearms in up to 1/3. easy bruising. joint hypermobility. Pedal piezogenic papules, varicose veins.
Differences between parry Romberg and en coup de sabre
En coup de sabre: more superficial, skin is bound down and adherent, loss of hair, pigment change is conspicuous
facial hemiatrophy: skin may remain mobile.
What is Chronic atrophic acrodermatitis
Late manifestation of Lyme disease
Painless, dull red nodules or plaques on extremities which slowly extend centrifugally for several months or years, leaving central areas of atrophy
T/F en coup de sabre is more superficial than parry romberg
T
Camptodactyly
non traumatic flexion deforming affecting PIP joints in 1 more fingers
4 types of colloid milium
(1) an adult-onset type, (2) a nodular form (nodular colloid degeneration),(3) a juvenile form, and (4) a pigmented form, thought to be due to excess hydroquinone use for skin bleaching
2 types of AR cutis laxa
I: severe, present at birth, emphysema early life
II: growth retardation, usually present at birth, severe over hands, feet and abode, bilateral congenital dislocation of hips
Both can have emphysema, hernias, diverticula or oesophagus, duodenum and bladder, aortic aneurysm
Congenital causes of poikiloderma
Rothmund-Thomson, dyskeratosis congenita, Mendes da Costa
Hereditary sclerosing poikiloderma of weary. Kindler syndrome
Diffuse and macular atrophic dermatosis, degos-Touraine
EDS has reduced recoil T/F
F normal recoil
Defn of anetoderma
loss of dermal substance on palpation and loss of elastic tissue on histological examination
= localised flaccid skin
What is follicular atrophoderma?
Dimple-like depressions at the follicular orifices are present from birth or early life, usually on backs of hands and feet, sometimes elbow.
Parry Romberg what is it
facial hemiatrophy.
May be a disorder of SNS, or following lupus panniculitis. Some associated with syringomyelia, epilepsy or CVD but 90% no association
ddx of knuckle pads
pachydermodactylyl, occupational callosities, heberdens nodes, ga, eed, rheumatoid nodules
Types of atrophoderma vermiculatum
- sporadic
- AD
- Part of KP syndrome (KP atrophicans) (also has Ulerythema ophryogenes aka KP atrophicans faciei which affects lateral eyebrows)
- Other syndromes: Rombo, Nicolau-Balus, Tuzan, Braun-Falco-Marghescu
What is de Barsey syundrome
AR type III Cutis laxa with cornea ocapicies due to degeneration of tunica elastic of the carnea, pseudoathetoid movements, mental retardation.
Causes of psudo ainhum and defn
Constricting bands which are congenital or secondary to another disease. eg infection (leprosy), trauma, cold, neuropathy, systemic sclerosis, chronic psoriasis
Presentation of anetoderma and who
females 20-40.
more frequent in central Europe
multiple, round, well defined 1-2cm lesions with wrinkly skin overlying a palpable depression - button hole sign. Flat, raised or depressed, skin coloured or blue/white. Chest, back, neck, thighs and arms
Drugs that cause acquired cutis laxa
Penicillin,penicillamine, isoniazid
Cutis laxa
Inheritance
Gene
AD (presents later): ELN, FBLN5
AR (more common but more severe)
FBLN4, 5, loss of functional mutations ATP6V0A2
De Barsey Syndrome (type III) – unknown gene
What is blepharochelasis
Blepharochalaxis
Laxity of eyelid skin due to defect in elastic tissue
Marfans
AD
Mutations in Fibrillin 1 gene on chromosome 15
Spontaneous Keloid associations
Spontaneous keloids usually occur in upper chest, presternal area. Probably due to microtruama, but has been reported in syndromes rubinstein-taybi, noonan and Dubowitz, Goeminne
Types of generalised elastosis
-Congenital
-Associated with other inherited disorders
Eg PXE, SCARF (skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation & facial abnormalities), de Barsy syndrome
-Acquired eg inflammatory skin disease, multiple myeloma, SLE, hypersensitivity reactions, complement, penicillamine
Atrophoderma of pasini and pierini- possible treatments
PUVA, HCQ
Types of superficial fibromatoses
palmar, plantar, penile, knuckle pads
Scleroatrophic syndrome of Huriez
- Diffuse scleroatrophy of the hands
- mild PPK
- Hypoplastic nail changes
6 types of juvenile fibromatoses
infantile myofibromatosis fibrous hamartoma of infancy juvenile hyaline fibromatosis infantile digital fibromatosis calcifying aponeurotic fibroma giant cell fibroblastoma
MAGIC syndrome
mouth and genital ulcers with inflamed cartilage. (overlap with relapsing chondritis and behcets)
Causes of secondary anetoderma
BIT OL AID
Autoimmune: LE, Graves, addison, sjogrenantiphospholipid (Bolognia)
Infection: TB, leprosy, pityriasis versicolor, varicella, borrellia, HIV
Drugs: penicillamine
Other: UP, GA, lymphomas
Babies: oxygen monitoring devices
Inflam: acne, mastocytosis, LP, JXG, sarcoidosis, prurigo
Tumours: involuted IH, pilomatricoma, DF
Genetic syndromes that include knuckle pads as a feature are:
Epidermolytic palmoplantar keratoderma
Bart-Pumphrey syndrome
Acrokeratoelastoidosis of Costa
Camptodactyly
Atrophoderma of pasini and pierini - features
one or more patches of skin become blue and sharply depressed. No surrounding erythema. Back is usually involved, also chest, abdo, proximal limbs.
Juvenile hyaline fibromatosis
inheritance
when does it present
features
AR
infancy/early childhood
papulonodular lesions (esp ears, scalp, neck, hands, periorificial), gingival hypertrophy, flexion contractures at large joints
pachydermodacylyl
fibromatosis usually of young adult males, swelling around dorsal and lateral aspects of proximal phalanges of index, ring and middle fingers.
Types of acquired cutis laxa
SCUM SKIPED: sle, complement def, urticaria, Multimple myeloma, sarcoid & syphilis , kippel tren, post inflame/infection , penicilliamine, EM, drugs
post urticarial or angioedema, extensive inflammatory skin disease.
(Collagen is normal, but elastic tissue reduced)
Histo of colloid milium
Homogenous eosinophilic material in upper papillary dermis, sometimes with a grenz zone. Clefting which is lined by fibroblasts. Sparing of the adnexae
Progeria
aka Hutchinsons-gilford
LMNA gene
Small stature, mid facial cyanosis, bird like facies, prominent frontal tuberoities and scalp viens. Dry, thin and wrinkled with mottled hyperpigmentation. Hair loss in first 2 years of life
CV - atheroma
What is Kyrles?
Probably synonymous with acquired perforating dermatoses
Some people believe it is not an entity, and represents end stage excoriated hyperplastic nodules of folliculitis
Perforating folliculitis
This largely asymptomatic eruption of chronic follicular papules occurs mainly on the limbs of young adults.
May be normal folliculitis with rupture
Treatment of relapsing polychondritis
exclude other causes eg infection (TB, syphilis, lethal midline granuloma, Wegeners) pred doses, indomethacin, dapsone colchicine maybe IV cyclosphosphamide, IV Ig. surgical reconstruction
If ophthal sees angioid streaks what do you do if there are no skin findings
If opthal sees angioid streaks, do a bx anyway of a pre-existing scar or from the side of the neck
Cutis verdicts gyratus
Hypertrophy and folding of the scalp. Primary form seen in males, onset puberty. Primary non essential: neuro & ophthal associations
Face not affected as in pachydrmoperiostosis.
Secondary form: associated with acromegaly, turner, myxedema, insulin resistant, hyper igE, paraneoplastic, graves.
Acquired dermatoses are associated with what?
Usually associated with DM and renal failure (dialysis). Can occur at sites of trauma, following exposure to drugs eg tnf alpha inhibitors, indinavir, sirolimus.
PXE tx
ophthal review (use an amsler grid), complications from systemic vascular involvement are prevented. Annual CVS review: echo, ECG Avoid activities that may cause a sudden increase in BP or contact injury to eyes. CV risks should be minimised. (HTN, avoid smoking, lipids) Skin: excision of folds, but delayed healing and scar, fillers. CO2 laser Avoid aspirin and nsaids Reduce calcium intake 6/12-12/12 font and fbc, yearly ophthal, cardio
Associations with duputyrens
alcoholic cirrhosis, diabetes, epilepsy. Decreased prevalence in RA
5% have other fibrosing conditions
Histo of cutis laxa
skin of NORMAL thickness
sparse, short, fragmented, clumped elastic fibres. Show granular degeneration. Deficient in elastin but normal microfibrils
Blepharochelasis info
Sporadic or AD. May be a localised form of post inflammatory elastolysis or follow angioedema.
Usually around puberty, transient attacks of painless swelling of the eyelids, lasting for 2-3 days, followed by laxity, atrophy, wrinkling and pigmentation, predominantly of upper eyelids.
May form a part of cutis laxa or Ascher’s syndrome
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.
Cherioarthropathy is in % of IDDM
30-40%, in NIDDM 4-70%
Infantile systemic hyalinosis
more severe than juvenile with organ involvement = infantile stiff skin syndrome
Most common neuro sign of parry-Romberg
horners
3 types of wrinkles
1) crinkles. aged skin, less elastin, even in areas protected from UV
2) glyphic wrinkles: accentuation of normal skin markings eg neck, UV
3) linear furrows, eg forehead, crows meet
Atrophoderma of pasini and pierini ddx
morphea, fixed drug, LS, ashy dermatosis
Type IV OI
mild form with normal sclerae, as per type I
Environmental and drug induced scleroderma
- Vinyl chloride monomer in workers involved in PVC production
- Silica dust
- Epoxy resin
- Toxic oil
- Organic solvents
- Breast augmentation
what do you find clinically in cutis laxa
loose skin that recoils slowly after stretching. In EDS it is hyperextensible but not lax and recoils quickly. PXE skin is lax, but yellow and face is spared.
Skin in OI cf normal skin
stiffer and less elastic
Types of pan atrophy
2 groups
1) Pan atrophy of Gower
2)Sclerotic pan atrophy
Possibly an abnormality in nervous system. 1) no scleroderma or other sclerotic process. F 2nd-4th decades
2) typical morphea or similar sclerotic change in dermal collagen precedes the atrophy
Ainhum
painful constriction of the 5th toe in adults with eventual spontaneous amputation. Abnormal blood supply to foot + trauma
Types of cutis verticis gyrata
Primary (idiopathic) in males - onset in puberty
a) essential (isolated)
b) non essential (associated with neurologic and/or ophtal forms)
secondary: associations: acromegaly, turner syndrome, myxoedema, hyper IgE, Graves, noonan
What is atrophoderma vermiculatum
Follicular atrophoderma on the cheeks
Reticular or honeycomb atrophy on cheeks. Papules first, then pitted, atrophic.
Abnormal follicular hyperkeratinisation.
4 primary perforating disorders
Kyrles, reactive perforating collagenosis, perforating folliculitis, elastotic perforating serpiginosis
3 classical premature aging syndromes
a) pangeria
b) progeria
c) acrogeria
Striae - definition
Linear scars which form in areas of dermal damage from skin stretching. Thinning of epidermis, fine dermal collagen bundles arranged in straight lines parallel to surface.
Peyronies disease aeitology
as part of polyfibromatosis (dupytruns, keloids and knuckle pads), atheroma, beta blockers (but probably due to atheroma)
DDx of juvenile hyaline fibromatosis
Winchester syndrome and nodulosis-arthropathy-osteolysis syndrome
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
When and who does primary cutis verticis gyrata develop in?
puberty - males
Features of Based-Duper-Christol
Follicular atrophodermaesp hands, feet, elbows, milia, multiple BCCs (40%), hypotrichosis, localised hypohidrosis above the neck.
association with relapsing polychondritis
: RA, LE, vasculitis, behcets, hashimotos. May overlap with Wegeners
If derm manifestations, old age, M – consider myelodysplasia
EPS features
Commonly seen in areas subjected to trauma.
Age 6-20, predominantly M
Small, horny or umbilicated papules in lines, circles or segments of circles. Usually lateral neck, face, arms or other flexural areas. May spontaneously resolve after several years
40% associated with connective tissue disorders
Treatment of perforating disorders
Inherited forms of RPC and EPS usually mild. May be able to avoid trauma, and allow spontaneous healing
Topical o Retinoids, CS, menthol, sal acid, sulfur, benzoyl peroxide, emollients, imiquimod Systemic o Antihistamines, CS, retinoids, abs, MTX, charcoal, allopurinol Other o Avoid trauma & scratching o Cellophane tape stripping (for EPS) o Phototherapy o Cryotherapy o Electrosurgical destruction o Laser ablation o Excision of larger lesions o Renal transplant oir change in dialysis tubing or equipment employed.
Atrophoderma of pasini and pierini histo
May be increased pigment.
IgM and C3 on IV in dermal blood vessels.
Some reduction in total thickness of the dermis. Collagen bundles appear homogenous and clumped in the reticular dermis
Ix for relapsing polychondritis
FBC – to exclude myelodysplasia
Urine (although may be normal in renal disease) dipstick + acid mucopolysaccharides (increased during relapse)
Pulmonary function tests to detect occult pulmonary involvement
ANCAS - may be overlap with wegeners
ANA, ENA, dsDNA, RA, antiphospholipids to exclude autoimmune associations
Vasculitis work up: ancas, cryoglobulins, eflts, cold agluttinins, cryofibinogens, hep b, c, hiv, crp, esr
QF gold, syphilis
XRay of trachea ?calcification +/- CT/MRI
RFTs, ecg
Histo: Decrease in chondrocytes, inflammation, fibrous connective tissue. Overlying skin is normal.
What is Achenbach’s syndrome
Sudden, spontaneous onset of 1 or more painful haematomas in the fingers, usually in a middle aged female. May recur at intervals for several years.
Burning or itching then bruising on palmar aspect of fingers. Then finger becomes swollen, pale and cold
Parry-Romberg
Atrophic dysplasia of superficial facial tissues. Probably a severe variant of linear morphea
Dx of acrodermatitis chronica atrophicans
Histo: atrophic epidermis, destroyed appendages, beneath a subepidermal zone of degenerate connective tissue is a dense, band-like infiltrate of lymphocytes, histiocytes and plasma cells
Serology: high Ab titre. (ELIA or EIA). If +ve, Western immunoblot is used to confirm
Digital papular calcific elastosis is aka
keratoelastoidosis marginalis
collagenous and elastotic marginal plaques of the hands
Approach to perforating dermatoses
Exclude drug induced (eg penicillamine – EPS, TNF alpha inhibitors, bevacizumab, sirolimus, indinavir for acquired perforating disorders)
Exclude diabetes mellitius, Chonic renal failure
Family hx/childhood onset: reactive perforating collagenosis, EPS
Check for signs of Downs, Ehlers danlos, OI, marfan, PXE, rothmund-thomson, acrogeria
Which stains show increase in elastic tissue?
Verhoeff-Van Gieson and orcein stains
What are the potential internal defects of cutis laxa?
Pulmonary emphysema, GIT and bladder diverticular, aortic dilatations, hernia, Often shortened life span
T/F in cutis verticis gyrata, the face is involved
F. That is pachydermoperiostosis
parry Romberg - clinical features
within first 2 decades
1st sign: pigment change in patches on cheeks, forehead or lower jaw. May get muscle spasms or neuralgia.
Atrophy then develops and may include bone, muscle
Hair may be lost
neuro signs: horners, heterochromia of the iris in 5%, retinal changes, ipsilateral cerebral atrophy
Follicular atrophoderma may be seen in
1 calcifying chondrodysplasia (conradi), 2) Bazex, 3) hyperkeratosis palmoplantaris, follicular keratosis or palmoplantar hyperhidrosis.
Commonest form of OI
type 1A: classic AD
deformity is mild, increased MV prolapse, blue sclerae
Atrophoderma of pasini and pierini (probably morphoea)
Features
Atrophic variant of morphea – blue/depressed, no erythema
F>M, 2nd-3rd decade
Back always, sometimes abdo, chest, proximal limbs. Increase in size and no for 10 yrs or more
May be associated with borrelia
PXE Ix
BP, FBC (blood loss), Ca, P (reports of high), fasting lipids, urine (blood), FOBT, eye exam, scope, echo, dobbler abi, CT head if neuro problems, radiology – calcification, angiography, ABCC6 gene testing.
Types of localised elastosis
Anetoderma
Blepharochalasis
Chronic atrophic acrodermatitis (due to Borreli)
Granulomatous slack skin
Mid dermal elastolysis, post inflammatory elastolysis and cutis laxa, elastic tissue naevi
Local panatrophy
partial or total loss of sc fat and atrophy of overlying skin, sometimes associated with atrophy or impaired growth of muscle or bone. The atrophic areas have a reduced sympathietic response. May be an abnormality of the sympathetic nervous system.
Cuase of perifollicular elastolysis
elastase producing strain of staph epidermidis
Pathophysiology of colloid milium
Degeneration of elastic fibres
Linked to excessive sun exposure and possibly exposure to petroleum products and hydroquinone.
in the adult form and due to degeneration of UV-transformed keratinocytes in the juvenile form. Juvenile colloid milium is inherited.
Associations with cutis laxa
X linked occipital horn syndrome, SCARF, genoderma osteodysplastic, costellos
Reactive perforating collagenosis
Usually precipitated by cold or trauma. May be familial. Starts in early childhood as small papules on the extensor surface of hands, elbows and knees. Koebnerises
Increases to a size of 6mm then becomes umbilicated. Regress in 6-8 weeks to leave a scar.
Non derm signs of PXE
CV: diminished pulses, THN, CVS, CVD, mitral valve prolapse
Eeys: angioid streaks (20-40 years), no impairment of vision but progressive failure may occur.
Drusen, speckled yellowish mottling
Obstetric: increased risk of miscarriage in 1st trimester, striae
Other: nild hyerca, vit D, high phosphate.
T/F ppl with EDS more prone to straie
F
Marfans features
Skeletal : tall, porportions are abnormal, long limbs, length of hallux, high arched palate, hyperextensible joints, muscles may be underdeveloped
Ocular: ectopia lentis (upward displaced lens), myopaia, retinal detachment, trembling iris
CV: dilatation of ascending arota, mitral valve prolance
Serpiginous perforating elastosis, striae, decreased SC fat on extremities
OI has which type of collagen abrnomalities
Type I
Knuckle pads
Thickenings over finger joints PIP>MCP
usually sporadic, but may be AD
EPS associations
PXE, EDS, MFS, OI, Rothmund-Thomson acrogeria. Down’s syndrome
Penicillamine: produces abnormal elastin. (Disrupts desmosine cross links within elastin)
DDx of anetoderma
White spot disease “extragenital LS”
atrophic scars eg varicella
focal dermal hypoplasia
popular elastorrhexis (elastic tissue naevi)
PXE
Inheritance
Gene
AR
ABCC6 gene chromosome 6– in membrane of hepatocytes and is an efflux pump.
Treatment of anetoderma
check antiphospholipid sydnreom, consider secondary causes, penicillin, anifibrinolytics (but not if atrophy has developed), colchicine maybe. excision.
pachydermodactyly
Fibromatosis of the fingers, young adult males. Symmetrical, diffuse swelling of the skin around the dorsal and lateral aspects of the proximal phalanges of the index, ring and middle fingers
May be associated with repeated rubbing
General causes of cutaneous skin thinning (generalised)
a) aging
b) rheumatoid disease
c) glucocorticoids
Primary anetoderma
Primary – due to focal elastolysis likely to release of elastolase from the inflammatory cells
Associations: antiphospholipid (in Bolognia – this is a secondary association)
Bolognia – 2 types Preceding inflammation (Jadossohn pellizzari) No preceding inflammation (Schweninger-buzzi type)
Ascher’s syndrome
blepharochalaxis + progressive enlargement of the upper lip due to hypertrophy and inflammation of the labial salivary glands. May be excessive salivation.
stellate pseudoscars are seen in what % of normal ppl aged 70-90
20% - usually secondary to mild trauma
DDx of duputyrens contracture
ganglion cysts, giant cell tumours of the tendon sheath, soft tissue sarcomas, calluses and tenosynovitis
marfans syndrome features
aortic dilatation, ectopia lentis and skeletal
PXE gene
ABCC6 gene
Features of mid-dermal elastolysis
Caucasion middle aged women
Possibly due to UV light, autoimmunity, pregnancy, OCP
Uncommon disorder with areas of fine wrinkling. Trunk, neck, arms Follow cleavage lines. May be preceded by urticarial or GA
I: symmetric well circumscribed areas
II: discrete perifollicular papules
III: reticulated erythema, telangiectasias.
Reactive perforating collagenosis
Tx: topical retinoid acid may reduce no of lesions, oral isotretinoin, MTX, emollients, topical steroids, PUVA
Actinic granuloma histo
biopsy radially across thickened edge of the dermis. Normal skin has actinic elastosis, thickened annulus (histiocytic and giant cell infalmamtory reaction), in centre: little or no elastic tissue remains.
Acquired dermatoses occur where ?
Usually on the legs. Extensors favoured over flexures and mucous membranes are spared. Central keratotic core. Secondary infection can occur
DDx of acrodermatitis chronica atrophicans
erythema chronicum migrans
Histology of hypertrophic scars
Increase in no of fibroblasts and density of collagen. Collagen becomes parallel to the skin surface. Dermal blood vessels are vertically orientated. Mast cells increased. Contains myofibroblasts within nodules (use alpha-SMA) . Elastic fibres diminished or absent
Keloid associations
EDS, pachydromperiostosis, rubinstein-Taybi, acromegaly, after thyroidectomy
Dx of relapsing polychondritis
3 of 6
recurrent chondritis of pinna, nasal cartilage, larynx, trachea or resp tract, ocular, cochlear or vestibular, non erosive arthritis.
Ppl with cheiroartrophaty have an increased risk of what
retinal and renal disease
frozen shoulder and dupuytrens contracture
Tensile strength of skin is the degree which it can be elongated before it tears. Low in EDS and cushings T/F
T
PXE major & minor criteria
Old
New
Dx: 1 major from 2 systems
Probe: 2 major from same cat or 1 major + 1 minor from another category
Old Major criteria 1 Flexural, yellow cobblestone lesions 2 Histo features using van gieson (elastin) and von kossa stains (ca) 3 Angioid streaks in retina 87% Minor 4 Histo changes in non lesional skin 5 Family hx of PXE in a 1o relative
New
Major
1 Skin yellow papules/plaques neck or body, bx with histo changes from affected skin
2 Eye: angioid streaks, peau d’orange
3 Genetics: mutation of both alleles of ABCC6, a 1st degree relative
Minor:
1 eye: 1 streak shorter than 1 disk Diameter, comets in retina, 1 or more wing signs
2 Genetics: 1 allege mutation.
Treatment of hemifacial atrophy
fillers, plastic surgery with flaps
Which is the lethal form of OI
Type II
DDx of elastosis perforans serpiginosa
: porokeratoses, reactive perforating collagenosis, perforating GA, tinea, sarcoidosis, actinic granuloma, perforating PXE, DLE
PXE histo
Histo: distorted, fragmented elastic fibres in the mid-deep reticular dermis. May be calficied and clumped. Calcium on elastic fibres with von kossa stain
Follicular atrophoderma - types
1 Calcifying chrondrodysplasia (Conradi’s)
2 Bazex-Dupre-Christol syndrome
3 Hyperkeratosis palmoplantaris, follicular keratosis or palmoplantar hyperhidrosis
Blepharochalaxis
Laxity of eyelid skin due to defect in elastic tissue
What is the significance of an exaggerated mental chin crease?
sensitive and specific finding in patients
Conradi-Hunermann-Happle
Features
Inheritance
Gender
(X linked D, CDPX2)
Girls. Lethal in males
Ichthyosiform streaks along blaschko’s lines, resolve during 1st year of life. Hyperpigmentation, cataracts, scarring, saddle nose, limb reduction defects, stippled calcifications
Anetoderma definition
Anetoderma
= loss of dermal substance on palpation and loss of elastic tissue on histological examination
= localised flaccid skin
what are brown pseudoscars
seen in shins of diabetic patients with no hx of trauma.
Blepharochalaxis occurs when
Features
Usually around puberty, transient attacks of painless swelling of the eyelids, lasting for 2-3 days, followed by laxity, atrophy, wrinkling and pigmentation, predominantly of upper eyelids.
There may be reduplication of the mucous membrane of the upper eyelid.
Scleroatrophic syndrome of Huriez
AD
- Diffuse scleroatrophy of the hands with no raynauds
- mild PPK
- Hypoplastic nail changes
- SCC in scleroatrophic skin
EDS type IV
severe, AD, vascular type
spontaneous rupture of large arteries, colon and gravid uterus, dissecting aortic aneurysm
2 phenotypic groups
acrogeric: prematurely aged
ecchymotic: easy brusiign.
Skin is not hyperextensible and joint hypermobility only small joints
Histo of Keloid + stains
increased nos of fibroblasts which form large, irregular nodules or whorls of haphazardly arranged collagen with a peripheral capsule like band. Increase in mast cells. CD34 neg (compared to DFSP), Factor XIIIa neg (compared to keloidal DF variant), little to no S100
3 features of prolidase deficiency
chronic skin ulceration, mental retardation, recurrent respiratory infections
