Metabolic & Systemic Disorders Flashcards
Types of xanthomas
TV TED (PXP)
Tendinous
Verrucous
Tuberous
Eruptive
Dyslipidaemic (planar, palmar, xanthelasma)
Eruptive xanthoma occurs in setting of secondary not primary dyslipidaemia
False , both
Exacerbating factors for eruptive xanthomas
Obesity High caloric intake Alcohol abuse DRUGS - oral oestrogen replacement Systemic meds: retinoids, protease inhibitors, olanzapine
Plane xanthomas are associated with monoclonal gammopathy
True
Verruciform xanthoma occurs in the setting of?
Lymphoedema EB, pemphigus DLE GVHD Cutaneous lesions lif X linked CHILD syndrome
Management of xanthomas
Dietician input
Medications include statins, fibrates, ezetimibe, nicotine acid lowers cholesterol , LDL cholesterol and triglycerides and incr HDL cholesterol
Cholestyramine NOT as effective
Amyloidosis -primary systemic -cutaneous features
Pinch purpura Macroglossia (carpal tunnel syndrome is association with this is a classic presentation) Periorbital purpura Waxy papulonodules and plaques Ecchymoses
AMYLOID deposits in macular, lichen amyloidosis and nodular amyloidosis are all keratinocyte derived
False , in nodular amyloidosis, they are derived from immunoglobulin light chains and accompanied by an infiltrate of plasma cells
What are some genetic forms of amyloidosis
Familial amyloid polyneuropathy Muckle wells, CAPS FMF TRAPS Familial amyloidosis Finnish type (AD)
Lichen amyloidosis Often occurs on lower legs of south East Asian individuals
True
What are the variants of lichen amyloidosis
Anosacral
Bullous
Dyschromic (guttate leukoderma superimposed on BG hyperpigmentation)
DDx waxy papules
Papular mucinosis, scleromyxoedema Nodular mucinosis Lipoid proteinosis Adnexal tumours of the face Colloid milia
Primary systemic amyloidosis patients fulfil criteria for multiple myeloma
False - they have an underlying plasma cell dyscrasia
Types of calcinosis cutis
Dystrophic - secondary to local tissue damage or altered elastin, collagen. Includes tumours eg. Pilomatricoma , DTE, inclusion cyst
Iatrogenic - extravasated calcium or phosphate infusions
Metabolic - abnormal calcium and/or phosphate metabolism causing precipitation of salts eg. Sarcoidosis, hyperparathyroidism , cutaneous LE, DM, CREST
Idiopathic - without trauma or metabolic defect
Calcinosis cutis develops in <5% of adult pt with DM
False 10-20%
Risk factors for calciphylaxis
Female Obesity Dialysis End stage renal disease Warfarin DM Antiphospholipid antibodies Thrombophlebitis eg. Protein C or S deficiency Alterations of Vit D dependent anti calcification proteins
5 genetic disorders with dystrophic calcification
Ehler Danlos syndrome PXE Porphyria cutanea tarda (not necessarily genetic form) Werner syndrome Rothmund Thompson Cerebral amyloid angiopathy
Most patients with scleromyxoedema have plasma cell dyscrasia s with IgM and light chains are more commonly kappa
False - IgM and lambda
What are clinical features of scleromyxoedema ?
Numerous 2-3mm firm waxy closely aligned papules in a relatively symmetrical widespread pattern
- head and neck region
- upper trunk, hands, forearms and thigh
- papules often have a strikingly linear array
Surrounding skin shiny and indurated (sclerodermoid)
Glabella deep longitudinal furrowing
Shar-pei sign
Doughnut sign
Leonine facies
Scleromyxoedema is very rarely pruritic
False, pruritus not uncommon
Scleromyxoedema mucous membranes and scalp usually involved
False , spared
30% cases of scleromyxoedema progress to systemic myeloma
False, <10%
Dermato neuro syndrome of scleromyxoedema encompasses what features?
Convulsion, fever, coma, cardiovascular complications, haem malignancy
Hep C is prevalent in scleromyxoedema
True - in Japanese patients (Lebwohl)
Four types of lichen myxoedematosus
PAIN HIV Papular; Acral; Of infancy; Nodular HIV associated
Spontaneous resolution of lichen myxoedematosus can occur except in case of HIV associations
False - can occur even in setting of HIV infection
Scleredema 3 types are?
1 - post infectious especially strep.
- face expressionless and opening mouth and swallowing can be difficult
2 - possible haem malignancy associated 25%
3 - diabetes mellitus associated
Pretibial myxoedema can progress to pitting oedema
False - non pitting oedema and elephantiasis
Pretibial myxoedema contains large amounts of mucin deposited in the papillary dermis
False RETICULAR dermis
Natural history of pretibial myxoedema
May persist for life but can also clear spontaneously on average over 3.5 years
Trauma can be the inciting factor for cutaneous focal mucinoses
True
Primary follicular mucinosis can often resolve spontaneously after 1-2months
False 2-24 months
What are mucocutaneous clues that suggest a possible nutritional disorder
Hair - sparse, flag sign (bands of light and dark discolouration), sparse hair, brittle hair, seb derm
Oral cavity - cheilitis, glossitis, gingival hypertrophy, bleeding Gums, mucosal erosions
Eyes - conjunctivitis, blepharitis
Photodistributed dermatitis with shellac like scale
Nails - koilonychia, slow and thin growth, pustular paronychia
Follicular hyperkeratosis and perifollicular haemorrhage, corkscrew hairs
ECCHYMOSES, petechiae, and poor wound healing
Zinc deficiency inherited form - gene + inheritance?
SLC39A4, autosomal recessive, encodes ZIP4 transporter
Maternal risk factors for zinc deficiency
Alcoholism Anorexia Diet high in mineral binding phytate Vegan diets Intestinal malabsorption Pregnancy, HIV infection, CRP, drugs (penicillamine)
Supplementation for zinc deficiency is 1-2 mg/kg/day for acquired and 3mg/kg/day for life for acrodermatitis enteropathica
True
Rx zincsulfate more affordable than gluconate. 10mg/mL
Stages of lipoid proteinosis
these occur after 2 years
1 - vesicles and crust that can resolve with ice pick scarring
Occurs on skin of face , mouth and extremities
2 - thickening of skin due to hyalin deposits within the dermis .
Verrucous lesions over extensors., alopecia eyebrows, lashes, corneal ulcers,
Genetics of lipoid proteinosis
Loss of function mutations in ECM-1
Types of colloid milium
Adult - multiple SYMMETRICAL yellow to flesh coloured facial papules assoc. with photo exposure
Nodular - flesh coloured nodule on face, scalp or chest usually solitary
Juvenile -translucent papules on cheeks, most , perioral skin, onset before puberty
Pigmented - variant of adult in which there is topical app of hydroquinone or phenol
Nodular colloid milium can be associated with myeloma and has plasma cells
False, associated but without plasma cells
Adult colloid milium is asymmetrical
False symmetrical
Juvenile colloid milium not related to UV exposure
False - UV light induced damage has also been observed
Colloid milium can be inherited
True , both autosomal dominant and recessive forms
Colloid milium stains positive for Congo red and PAS
True , pan cytokeratin stain negative to help distinguish from primary cutaneous amyloidosis
Factors predisposing to acute GVHD
HLA mismatch
Gender mismatch
Older recipient age >40y
Total body irradiation
Factors predisposing to chronic GVHD - DONOR risk factors
DONOR gender mismatch Older recipient and donor Alloimmunisation eg. Prior pregnancy Disparate HLA to recipient
Factors predisposing to chronic GVHD - RECIPIENT risk factors
Non traditional conditioning regime, age >40y, prior acute GVHD, CML
Factors predisposing to chronic GVHD - TRANSPLANT risk factors
Use of peripheral blood stem cells
T cell replete graft
GVHD is only excluded on histo when there is a VERY high number of eos ie. 16 eos per 10 high power fields
True
Skin staging of GVHD
Stage 1 - <25% BSA
Stage 2 - 25-50% BSA
Stage 3 - >50% to generalised erythroderma
Stage 4 - generalised erythroderma WITH bulla formation
