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
βSalt and pepperβ 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
SjΓΆgren
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 partsβ 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