Al amyloidosis skin changes E85.9

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

AL amyloidosis; AL amyloidosis cutaneous involvement; AL-type amyloidosis; Systemic amyloidosis Skin changes

Definition
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Systemic amyloidosis (see also Al amyloidosis and renal changes) with deposits of amyloid consisting of light chains of immunoglobulins. According to the isotypes, lambda and kappa amyloids are distinguished. Occurrence in monoclonal B-cell proliferation, but also idiopathic.

Etiopathogenesis
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Occurs in gammopathy-associated amyloidosis, monoclonal B-cell proliferation such as plasmocytoma and M. Waldenström, but also in multiple myeloma and malignant lymphomas. Idiopathic genesis is also described. The amyloidogenic precursor proteins of AL amyloidoses are amino-terminal fragments of the variable regions of monoclonal immunoglobulin (Ig) light chains together with intact light chains. The process leading to amyloid formation is still largely unknown.

Localization
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Face (especially eyelids), scalp, tongue (macroglossia), palmae and plantae.

Clinical features
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In 30-50%, skin or mucous membrane infection occurs.

There are waxy or glassy, translucent, whitish to yellowish papules of varying size, preferably on the face (especially eyelids), scalp, tongue (dental impressions to macroglossia), palmae and plantae as well as in the genital area.

Partly formation of extensive plaques due to confluence of single standing foci, partly scleroderma aspect.

Possibly also increased skin fragility and blister formation (see also amyloidosis, blistering). Purpura, petechiae, ecchymoses (spontaneous spectacle haematoma = raccoon sign), see also amyloidosis, systemic.

Usually no itching. The main dermatological symptom is petechial or extensive bleeding. In older foci, hemosiderin deposits can be seen.

In the anogenital area formation of condyloma-like growths.

Alopecia and nail dystrophies have been described. The generalized amyloid deposits in these cases also affect the mucous membranes; they lead to macroglossia on the tongue.

Notice! Asymptomatic papules and plaques that bleed in with little mechanical irritation are highly suspected of systemic AL-type amyloidosis!

Histology
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Differential diagnosis
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Therapy
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Variable depending on the underlying disease. A less stressful regime is the combination therapy with monthly melphalan cycles ( Alkerane 1mal/day 10 mg p.o. for 5 days) and glucocorticoids such as methylprednisolone (Urbason 1mal/day 50 mg p.o. for 5 days). Alternatively, high-dose chemotherapy with subsequent stem cell transplantation.

Case report(s)
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  • 65-year-old patient undergoing inpatient internal medicine treatment for haemoptysis and pectanginous complaints. The clinical-dermatological presentation was due to extensive, bilateral, periorbital bleeding. No subjective symptoms like itching or pain. Otherwise slight exsiccation eczema.
  • Laboratory findings: Pronounced paraproteinemia with free capa- and lambda fragments. Biopsy of the colon and mucous membrane: Detection of amyloid deposits (Congo red). Skin biopsy (cheek): Detection of amyloid deposits in subcutaneous vascular walls, subcutaneous connective tissue and along smooth muscles. Biochemical examinations: Classification of amyloidosis as L-lambda variant. Echocardiography: Wall thickened left ventricle with reduced ejection fraction of 60%, relaxation disorder. Iliac crest biopsy: No evidence of plasmocytoma.
  • Therapy: Melphalan (Alkeran once/day 10 mg p.o. for 5 days) and methylprednisolone (Urbason once/day 50 mg p.o. for 5 days) in monthly cycles. Early significant decrease of relevant laboratory parameters.

Literature
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  1. Alim MA et al (1999) Structural relationship of kappa-type light chains with AL amyloidosis: multiple deletions found in a VkappaIV protein. Clin Exp Immunol 118: 344-348
  2. Alim MA et al (1999) Structural relationship of lambda-type light chains with AL amyloidosis. Clin Immunol 90: 399-403
  3. Breathnach SM (1988) Amyloid and amyloidosis. J Am Acad Dermatol 18: 1-16
  4. Fracture resin D et al (2001) Accumulation of the xanthophyll lutein in skin amyloid deposits of systemic amyloidosis (al type). J Invest Dermatol 116: 196-197
  5. Buxbaum JN et al (1979) Amyloidosis of the AL Type. Clinical, Morphological and Biochemical Aspects of the Response to Therapy with Alkylating Agents and Prednisone. Am J Medicine 67: 867-878
  6. Fujigaki Y et al (2003) Longterm complete remission of AL-amyloid-related nephrotic syndrome. Clin Exp Nephrol 7: 250-253
  7. Laimer M et al (2004) Systemic AL-lambda amyloidosis with vascular fragility. JDDG 2: 934-939
  8. Modesto KM et al (2005) Left atrial myopathy in cardiac amyloidosis: implications of novel echocardiographic techniques. Eur Heart J 26: 173-179
  9. Ruzicka T et al (1990) Cutaneous amyloidosis. Dermatologist 41: 245-255
  10. Sanders PW (2005) Management of paraproteinemic renal disease. Curr Opin Nephrol Hypertens 14: 97-103
  11. Swan N et al (2003) Bone marrow core biopsy specimens in AL (primary) amyloidosis. A morphologic and immunohistochemical study of 100 cases. Am J Clin Pathol 120: 610-616

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Last updated on: 29.10.2020