26- Errors In Metabolism Flashcards by Jenica Dela Cruz

Material deposited in the skin and other organs

Eosinophilic, homogenous and hyaline in appearance

Represents beta-pleated sheet forms of host-synthesized molecules

Amyloid

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Cutaneous sx in 40%- shiny smooth firm flat topped or spherical papules, waxy color that resemble translucent vehicles

Involves kidneys liver heart GIT skin peripheral nerves

Glossitis with macroglossia

Primary systemic amyloidosis (AL amyloidosis)

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Most common cutaneous manifestation of primary systemic amyloidosis

Purpuric lesions and ecchymoses

Eyelids limbs and oral cavity
Occurs after trauma

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Patients with systemic amyloidosis are at increased risk for the development of

Skin cancer

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This lab finding in systemic amyloidosis is associated with a 6 month survival

Elevated troponin

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This type of amyloidosis is associated with chronic infection or inflammatory process

No skin involvement

Secondary amyloidosis (AA amyloidosis)

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Most cases of secondary systemic amyloidosis are now related to chronic inflammatory conditions like

Juvenile idiopathic arthritis
Ankylosing spondylitis
IBD
Behçet disease

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SAA levels should be maintained at _____ mg/mL to have a good outcome

4mg/mL

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Patients with these types of cutaneous amyloidosis often have coexisting atopic dermatitis

Macular

Lichen

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Four forms of localized cutaneous amyloidosis

Macular
Lichen
Nodular
Familial

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Systemic amyloidosis is excluded in post inflammatory hyperpigmentation with pigment incontinence by this histologic finding

Absence of amyloid deposits around blood vessels

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What type of cutaneous amyloidosis?

Moderately pruritic brown rippled macules located in the interscapular region of the back

“Salt and pepper” rippled appearance of pigmentation

Macular amyloidosis

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What type of cutaneous amyloidosis?

Paroxysmally itchy lichenoid papules, always bilaterally appearing on shins

Small brown discrete slightly scaly papules that group into plaques

Lichen amyloidosis

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Treatment for lichen and macular amyloidosis

Reduce friction
High potency steroid
PUVA
UVB
laser therapy

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Single or multiple tumefactions/nodules involve the acral areas

Asymptomatic, may grow slowly
Overlying epidermis may be atrophic or resemble large bullae

Nodular amyloidosis

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Diseases associated with nodular amyloidosis

Sjögren
Systemic sclerosis
RA

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7% of patients in this type of amyloidosis can progress to systemic amyloidosis

Nodular

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Most common type of porphyria

Porphyria cutanea tarda

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Most common in midlife
Photosensitivity that results in bullae on sun exposed parts— rupture to form erosions and shallow ulcers

Hyperpigmentation of the skin, skin fragility in affected areas

Hypertrichosis and violaceous/pink tint of the face

PCT

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Liver disease and history of alcoholism is common in patients with this type of porphyria

PCT

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PCT is a well recognized cutaneous complication of this viral infection

HCV

PCT is caused by a deficiency in what enzyme?

Uroporphyrinogen decarboxylase (UROD)

Useful confirmatory test of PCT

Pink or coral red fluorescence of urine specimen under Wood’s light

Treatment of PCT

Removal of offending agents- alcohol, sunlight

Phlebotomy- 500ml q2 weeks
Antimalarials -complex excess porphyrins which enhances excretion
-Chloroquine 125 mg or HCQ 100-200mg twice weekly

Have histologic features of PCT but normal urine and serum porphyrins No hypertrichosis, dyspigmentation

Pseudoporphyria

Pseudoporphyria is usually caused by

NSAIDS- naproxen

Cutaneous calcification from deposits of calcium and phosphorus in the skin

Calcinosis cutis

What type of calcinosis cutis? Occurs in preexisting lesion or inflammation Normal systemic calcium metab, serum levels normal Lesions affect skin only- small deposits of chalky granular material around fingers, elbows and other areas of trauma

Dystrophic calcinosis cutis

Treatment for dystrophic calcinosis cutis

Surgical removal ``` Bisphosphonates Diltiazem Warfarin IVIG, TNF inhibitors Thalidomide Colchicine ```

What type of calcinosis cutis? Calcifications in skin, elevated serum calcium and hyperphosphatemia Associated with bone loss

Metastatic

Most common metabolic condition associated with metastatic calcifications (metastatic calcinosis cutis)

Renal failure

Most common form of ideopathic calcinosis cutis

Scrotal calcinosis

Patients with Eruptive xanthoma has increased _______ (lipoprotein type)

Triglycerides

What type of lipoprotein is increased in Tendinous xanthoma?

LDL

Xanthoma that may not be associated with increased lipids

Xanthoma planum

Most common type of xanthoma

Xanthelasma

Treatment of xanthelasma

Surgical excision

Ashkenazi Jews Mutation in sphingomyelinase gene Neurovisceral disease, Xanthomas, yellow brown induration of the skin Death before age 50

Niemann Pick disease

Most common lysosomal storage disease

Gaucher disease

Deficient B-glucosidase- accumulation of glucosylceramide Ashkenazi Jews Hepatosplenomegaly, osteopenia, sclera pingueculae and bronze coloration Neuro sx

Gaucher disease

Rare x-linked lysosomal storage disease with mutation of a-galactosidase A gene Punctate telangiectatic vesicular papules(angiokeratoma) Corneal opacity, hypohidrosis, scanty hair, visceral dse, neuropathic pain

Fabry disease

Type 1 Diabetic skin disorder | Well circumscribed firm depressed waxy yellow-brown plaques in anterior shin

Necrobiodis lipoidica

Inborn error of tryptophan excretion Pellagra like dermatitis after sunlight exposure, intermittent cerebellar ataxia, psychosis, aminoaciduria

Hartnup disease

Autosomal recessive disorder of phenylalanine metabolism d/t phenylalanine hydroxylase deficiency Mental deficiency, seizures, pseudoscleroderma and eczematous dermatitis Blue eyes, blond hair and fair skin, light sensitivity

PKU

Most common form of inherited aminoaciduria

PKU

Autosomal recessive Lack of renal and homogentisic acid oxidase ``` Dark urine that becomes black when standing Scleral pigmentation (Osler sign), cartilage pigmentation ``` Blue or mottled brown macules in skin

Alkaptonuria

Autosomal recessive derangement of copper transport Hepatosplenomegaly and neuropsych changes Azure lunulae (sky blue moon) of nails Kayser-Fleischer rings at corneal edges Hyperpigmentation on LE

Wilson disease

Mucopolysaccharide metabolism lysosomal storage disease Deficiency of a-iduronidase (breakdown of heparan and dermatan sulfate) Mental retardation, hepatosplenomegaly, umbilical and inguinal hernia, facial dysmorphism (saddle nose, thick lips, large tongue) Thickened skin with ridges and grooves

``` Hurler syndrome (MPS 1) -mucopolysaccharidosis 1 ```

Deficiency of iduronate 2 sulfatase Pebbly lesions on upper back, neck, chest, proximal arms or thighs Dermatan and heparan sulfate are excreted in urine

Hunter syndrome | MPS II

Periarticular nodules, joint swelling and deformation, weak cry, pulmonary failure and motor and mental retardation Deficient ceramidase— accumulation of ceramide Rubbery subcutaneous nodules

Farber disease

Childhood hyperuricemia, gout, tophi, choreoathetosis, mental retardation and self mutilation

Lesch-Nyhan syndrome