Scleromyxoedema L98.5

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 24.01.2021

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Synonym(s)

Arndt-Gottron Syndrome; generalized papular and sclerodermoid mucinosis; papular mucinosis; scleromyxedema; Scleromyxoedema

History
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Arndt and Gottron, 1954

Definition
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Rare, severe, generalized variant of the lichen myxoedematosus with typical lichenoid papules, extensive thickening and hardening of the skin with storage of mucins and massively increased fibrosis of the dermis.

Frequent (>90%) monoclonal paraproteinemia, mostly of the IgG1 lambda type, more rarely of the IgG kappa type. S.a. mucinoses. IgG1 lambda is a 7S, papain-sensitive globulin (size approx. 100 kDa), which is strongly basic due to its high lysine content.

Etiopathogenesis
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Unknown.

Pathogenetically, it seems to be largely certain today that fibroblasts are responsible for the production and accumulation of acid mucopolysaccharides. Fibroblasts are stimulated by a serum factor that is independent of the paraprotein.

The position of paraproteinemia in the course of the pathogenesis of the disease is unclear. Stimulation of fibroblasts also occurs after elimination of paraproteinemia.

The paraprotein level does not correlate with the severity of the disease!

Manifestation
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No gender relation, first manifestation 40th-60th LJ

Localization
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Face, typical infestation of the glabella, neck, arms, hands, trunk,

Clinical features
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  • Scleroderma-like picture: Diffusely thickened facial skin with mimic rigidity, thickened skin of the distal extremities.
  • Thickened, doughy skin of increased consistency, hyperpigmented, "too wide" skin that can be lifted off in large wrinkles.
  • Multiple, dense, pinhead-sized, often itchy, lichenoid papules arranged in the skin lines, especially on the forehead (glabella), lateral facial region, retroauricular and neck. Symmetrical infestation of the extremities, back and abdomen is rarer.
  • Internal organs: Sclerotherapy of renal and coronary arteries with corresponding symptoms, cerebral symptoms, pulmonary involvement (pulmonary fibrosis after years of progression); arthritis, peripheral polyneuropathies, oesophageal motility disorders.
  • Complication: Dermato-neuro-syndrome as a rare, acute neurologically accentuated symptomatology with fever, flu-like symptoms, epileptic seizures, confusion with hallucinations and possible death.

Laboratory
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in > 90% of the patients a monoclonal gammopathy is found: IgG lambda type, rarely IgG-kappa-, IgA- or IgM-paraproteins; also detection of a reactive plasmocytosis (approx. 10% plasma cells in the bone marrow)

Histology
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Massive deposits of mucoid substances in the dermis. Cell-rich fibrosis with fibroblast proliferation, degenerated connective tissue fibres, swollen collagen fibres and vascular walls.

Differential diagnosis
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  • Scleroderma, systemic: Skin sclerosis, usually onset with involvement of the upper extremities(acrosclerosis), Raynaud's symptoms, possibly dome necrosis, characteristic facial symptoms, occurrence of ANA and highly specific ENA, characteristic organ involvement.
  • Scleroderma, disseminated circumskripte: Mostly painless, chronic stationary, localized to trunk and extremities, extensive, white, red, or brown indurations. No organ involvement. Histology is demarcatingly demonstrative. Usually no serological autoimmune phenomena.
  • Fibrosis, nephrogenic systemic (rare): Plaque-like and/or diffuse, board-like (woody) thickening and hardening of the skin, subcutis, and underlying muscles with brownish, yellowish discoloration. Skin lesions begin on the extremities, then spread to the trunk. Face usually excluded. Burning pain, itching. Patients are severely ill!
  • Scleroedema adultorum: Principle: "athlete's back"! Massive contour of back and neck (bull's neck) with firm consistency, either not noticed at all by the pat. or rather accidental. No discoloration of the skin. Diabetes and obesity.
  • Fasciitis, eosinophilic: V.a. on forearms; rarely on trunk and face. Doughy, painful, red swelling with subsequent dermal induration of skin and subcutaneous fat. Hereby pseudo cheek skin phenomenon. Frequent development of joint contractures and carpal tunnel syndrome. Occasional accompanying arthralgias, myositis, paresthesias of the fingers. No involvement of internal organs, no Raynaud's phenomenon. Blood eosinophilia, CRP elevation, and hypergammaglobulinemia.
  • Myxedema, pretibial: Pretibial, coarse, induration difficult to depress; peau d'orange, hypertrichosis, always hyperthyroidism.
  • Mucinoses of other genesis (see mucinosis(s) below).

Therapy
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No causal therapy known. Therapy of the skin alterations was successful in individual cases with the following therapy modalities:
  • In case of a purely cutaneous, limited infestation pattern:
    • Retinoids: Isotretinoin (e.g. isotretinoin-ratiopharm; acne normin) initially 0.5 mg/kg bw/day, maintenance therapy according to clinic.
    • Irradiation: Alternative initiation of a PUVA-therapy or RePUVA-therapy.
  • In case of extensive infestation pattern and/or proof of a gammopathy and/or systemic infestation:
    • Glucocorticoids in combination with cytostatics: prednisone (e.g. Decortin) 80-100 mg/day combined with cyclophosphamide (e.g. Endoxan) 150-200 mg/day p.o., gradual dose reduction. Seek maintenance therapy by 50 mg/day. Alternative shock therapy: Prednisone 500-1000 mg i.v. every 2-4 weeks, then extend intervals. Alternatively, combination with dexamethasone 40 mg p.o. for 4 days every 4 weeks.
    • Alternatively, plasmapheresis in combination with immunosuppressive drugs such as cyclophosphamide: This is a therapeutic principle which has been described as having good long-term success. Early therapy start improves the success.
    • Alternative: IVIG. About 15 patients worldwide have been treated with remarkably good results (2 complete healings), mainly in the Anglo-American area. The dosages were in the high therapy range (2 g/kg bw! spread over several days); therapy intervals of 4 weeks. Therapy duration 6 months up to 3 years.

      Notice! Probably the most promising therapy principle (optimal dosages still unclear) with unfortunately very high therapy costs!

    • Alternative: Melphalan (Alkeran): Relatively good response with relatively high rate of side effects. Maintenance therapy at 1-10 mg/day p.o.
    • Alternative: Thalidomide. In individual cases the successful use of Thalidomide 100 mg/day p.o. has been described. Therapy over 2 years, improvement is expected after about 6 months.
    • Alternative: photopheresis, extracorporeal: Trial with extracorporeal photopheresis has been described successfully in individual cases of resistance to therapy.
    • Radiotherapy with fast electrons (for cutaneous foci, dose: 7 MeV-electrons, several sessions up to a GD of 16-28.5 Gy).
    • Alternative: chloroquine/ hydroxychloroquine (Resochin, Quensyl): Short-term success in casuistics, especially for joint immobility of the extremities. Initially 600 mg/day p.o. for 10 days, then 400 mg/day p.o. for 4 weeks; afterwards 200 mg/day p.o. The success of the therapy can be assessed after 6 months at the earliest.

Progression/forecast
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Mostly highly chronic course over years, no spontaneous regression. Death by bronchopneumonia, cardiovascular or cerebrovascular insults. Usually no development of a plasmocytoma.

Case report(s)
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  • The 55-year-old patient first noticed diffuse swelling and a feeling of tension in her face and on the extensor sides of her upper extremities about 10 years ago. In the course of the years, there was a gradually increasing hardening of the entire skin with movement restrictions, initially on the hands and later progressively on the elbows and shoulder joints. The diagnosis of scleromyxedema was made in 2003.
  • The following therapies were used in the order listed: hydroxychloroquine for 1.5 years (dosage: initially 400 mg/day for 4-8 weeks, then 200 mg/day). No perceptible effect. Isotretinoin 8 months (dosage: 20 mg/day). Termination due to progression. Intermittent UVA-1 cold light therapy (see phototherapy below) (dosage: 2520 J/cm2). Therapy success is noticeable but not satisfactory.
  • Findings: In the clearly obese patient a continuous diffuse, coarse (almost woody) hardening of the homogeneous brownish tinged integument was detectable, which could only be dented under fixed permanent pressure. Several joint systems (hands, shoulders) had flexural contractures. Retroauricularly as well as in the forehead area dense, firm, shiny, skin-coloured papules and plaques were detectable. Clear microstomy (scleroderma-like facial aspect).
  • Laboratory: Monoclonal gammopathy of type IgG lambda. Mild lymphocytosis, BSG 35/70; CRP significantly increased.
  • Therapy: 4-week repetitive IVIG (1 g/kg bw spread over 3 days); duration of therapy: 2 years.
  • Results: Significant decrease of skin induration, which was both subjectively and objectively (20 MHz sonography and histology) detectable.

Literature
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  1. Berkson M et al (1991) Extracorporeal photochemotherapy: a potentiallly useful treatment for scleromyxedema. J Am Acad Dermatol 25: 724
  2. Charles S et al (2014) Dermato-neuro syndrome during scleromyxedema: efficacy of plasmapheresis and intravenous immunoglobulin. Ann Dermatol Venereol 141:523-527

  3. Dubreuilh W (1908) Fibromes miliares folliculaires: Sclérodermie consécutive. Arch derm syph 91: 569-572
  4. Durani BK (2001) Extracorporeal photophoresis - therapeutic option for scleromyxedema. dermatologist 52: 938-941
  5. Gerstner S et al (2014) Differential diagnosis of angioedema. Acute edematous scleromyxedema]. Dermatologist 65:454-457

  6. Gottron HA (1954) Scleromyxoedema (A peculiar manifestation of myxothesauroderma). Arch Derm Syph 199: 71-91
  7. Kövary PM et al (1980) Scleromyxedema Arndt-Gottron - a paraproteinemic dermatosis. Act Dermatol 6: 155-163
  8. Sansbury JC et al (2004) Treatment of recalcitrant scleromyxedema with thalidomide in 3 patients. J Am Acad Dermatol 51: 126-131
  9. Topf S et al. (2007) Significant improvement of a scleromyxedema Arndt-Gottron by high-dose intravenous immunoglobulins. Dermatologist 58: 525-528
  10. Wetter DA et al (2005) Effectiveness of intravenous immunoglobulin therapy for skin disease other than toxic epidermal necrolysis: a retrospective review of Mayo Clinic experience. Mayo Clin Proc 80: 41-47

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Last updated on: 24.01.2021