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