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%