26- Errors In Metabolism Flashcards
Material deposited in the skin and other organs
Eosinophilic, homogenous and hyaline in appearance
Represents beta-pleated sheet forms of host-synthesized molecules
Amyloid
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)
Most common cutaneous manifestation of primary systemic amyloidosis
Purpuric lesions and ecchymoses
Eyelids limbs and oral cavity
Occurs after trauma
Patients with systemic amyloidosis are at increased risk for the development of
Skin cancer
This lab finding in systemic amyloidosis is associated with a 6 month survival
Elevated troponin
This type of amyloidosis is associated with chronic infection or inflammatory process
No skin involvement
Secondary amyloidosis (AA amyloidosis)
Most cases of secondary systemic amyloidosis are now related to chronic inflammatory conditions like
RA
Juvenile idiopathic arthritis
Ankylosing spondylitis
IBD
Behçet disease
SAA levels should be maintained at _____ mg/mL to have a good outcome
4mg/mL
Patients with these types of cutaneous amyloidosis often have coexisting atopic dermatitis
Macular
Lichen
Four forms of localized cutaneous amyloidosis
Macular
Lichen
Nodular
Familial
Systemic amyloidosis is excluded in post inflammatory hyperpigmentation with pigment incontinence by this histologic finding
Absence of amyloid deposits around blood vessels
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
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
Treatment for lichen and macular amyloidosis
Reduce friction High potency steroid PUVA UVB laser therapy
Single or multiple tumefactions/nodules involve the acral areas
Asymptomatic, may grow slowly
Overlying epidermis may be atrophic or resemble large bullae
Nodular amyloidosis
Diseases associated with nodular amyloidosis
Sjögren
Systemic sclerosis
RA
7% of patients in this type of amyloidosis can progress to systemic amyloidosis
Nodular
Most common type of porphyria
Porphyria cutanea tarda
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
Liver disease and history of alcoholism is common in patients with this type of porphyria
PCT
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
