Metabolic & Systemic Disorders Flashcards by Natalie ling

Types of xanthomas

TV TED (PXP)
Tendinous
Verrucous

Tuberous
Eruptive
Dyslipidaemic (planar, palmar, xanthelasma)

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Eruptive xanthoma occurs in setting of secondary not primary dyslipidaemia

False , both

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Exacerbating factors for eruptive xanthomas

Obesity
High caloric intake
Alcohol abuse
DRUGS - oral oestrogen replacement
Systemic meds: retinoids, protease inhibitors, olanzapine

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Plane xanthomas are associated with monoclonal gammopathy

True

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Verruciform xanthoma occurs in the setting of?

Lymphoedema
EB, pemphigus
DLE
GVHD
Cutaneous lesions lif X linked CHILD syndrome

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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

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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

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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

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What are some genetic forms of amyloidosis

Familial amyloid polyneuropathy
Muckle wells, 
CAPS
FMF
TRAPS
Familial amyloidosis Finnish type (AD)

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Lichen amyloidosis Often occurs on lower legs of south East Asian individuals

True

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What are the variants of lichen amyloidosis

Anosacral
Bullous
Dyschromic (guttate leukoderma superimposed on BG hyperpigmentation)

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DDx waxy papules

Papular mucinosis, scleromyxoedema
Nodular mucinosis
Lipoid proteinosis
Adnexal tumours of the face
Colloid milia

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Primary systemic amyloidosis patients fulfil criteria for multiple myeloma

False - they have an underlying plasma cell dyscrasia

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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

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Calcinosis cutis develops in <5% of adult pt with DM

False 10-20%

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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

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5 genetic disorders with dystrophic calcification

Ehler Danlos syndrome
PXE
Porphyria cutanea tarda (not necessarily genetic form)
Werner syndrome
Rothmund Thompson
Cerebral amyloid angiopathy

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Most patients with scleromyxoedema have plasma cell dyscrasia s with IgM and light chains are more commonly kappa

False - IgM and lambda

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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

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Scleromyxoedema is very rarely pruritic

False, pruritus not uncommon

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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