Primary anetoderma of Schweninger-Buzzi type – a cutaneous sign for prothrombotic stage
Primäre Anetodermie der Schwenninger-Buzzi-Typs – EIN HAUTMARKER FÜR PROTHROMBOTISCHE ZUSTÄNDE
Primary anetoderma is a rare connective tissue disease characterized by focal loss of elastic fibers and herniation of dermal tissue leading to flaccid pouches. We describe a 48 yearl-old male patient who presented with over 100 asymptomatic lesions. The laboratory work-out, however, demonstrated antiphospholipid antibodies and systemic lupus with renal involvement. Primary anetoderma is a cutaneous marker for antiphospholipid antibodies.
Primäre Anetodermien sind seltene Bindegewebserkrankungen, die durch einen fokalen Verlust elastischer Fasern und Herniation der Dermis mit faltiger epidermaler Oberfläche gekennzeichnet sind. Wir berichten über einen 48-jährigen Patienten, der mit mehr als 100 asymptomatischen Läsionen vorstellig wurde. Laboruntersuchungen erbrachten jedoch den Nachweis von Antiphospholipidantikörpern im Rahmen eines systemischen Lupus erythematodes mit Nierenbeteiligung. Primäre Anetodermien sind Hautmarker für Antiphospholipid-Antikörper.
Anetodermas are rare disorders of the connective tissue characterized by localized elastolysis of dermal elastin and/ or fibrillin fibres. They can be subdivided into primary or connatal anetoderma and acquired anetoderma, with the latter being more common [1, 2]. Primary anetoderma often relates to infants prematurity . A great variety of trigger factors have been identified for acquired anetoderma including ultraviolet light (UVL) exposure, infectious diseases (varicella, borreliosis, syphilis, HIV), autoimmune diseases (lupus erythematosus, Hashimoto thyreoiditis, antiphospholipid syndrome) or malignancies (cutaneous T-cell lymphoma) [2, 4, 5].
Traditionally, inflammatory (Jadassohn and Pellizari type) and non-inflammatory anetoderma (Schweninger-Buzzi type) can be differentiated clinically . The histopathologic finding of established anetoderma is the same within these clinical types. The hallmarks include focal loss of elastic fibers (Verhoeff-Van Giesson stain), sometimes fiber fragmentation, thinning of collagen bundles in the reticular dermis and reduction of fibroblast counts. Early lesions are characterized by mild inflammatory reactions, perivascular monocytic infiltrates with intermingled neutrophils and/ or eosinophils and nuclear fragments .
A 48 year-old male patient presented with more than 100 saclike, flaccide, circumscribed, asyptomatic lesions on the trunk with atrophic epidermis and wrinkling following the skin tension lines (Fig. 1). Palpation demonstrated inward herniation. The majority of the lesions had a diameter of less than 20 mm (Fig. 2).
A skin biopsy was taken for histopathology. An atrophic epidermal layer covered a dermal connective tissue herniation with markedly reduced leastic fibres and absence of skin appendages in the same area. A delicate perivascular mixed inflammatory infiltrate was evident.
Laboratory investigations: Mild anemia with haemoglobin of 8.50 mmol/l (normal range: 8.6–12.1) and erythrocyte count of 4.46 Tpt/l (4.6–6.2). C-reactive protein 6.8 mg/l (<5); Westergreen blood sedimentation rate 28 mm (< 15); -globulinemia of 21.2% (8.7–16.0).
Renal parameters: Cystatin C 1.26 mg/l (<0.96); total protein in urine 0.14 g/die (<0.1); -1-microglobulin (urine) 29.7 mg/l (<12); -2-microglobulin (urine) 3490 μg/ml (0–300).
Autoantibodies: Antinuclear antibodies (ANA) 1:640, homogenous pattern with prominent nucleoli (< 1:80); double-stranded DNA antibodies 49.4 IU/ml (<25); SSA-antibodies 206 U/ml (<7); cardiolipin IgG antibodies 10.7 U/ml (< 10) and IgM antibodies 57.4 U/ml (<10) Lupus anticoagulant diluted Russel’s viper venom test (dRVVT) 1.59 (<1.1), silica clotting time (SCT) 1.81 (< 1.16). Antibodies against U1RNP, SSB, Sm, ANA, Jo-1, Scl-70, citrullin, and CENP-B – all negative. C3 and C4 complement components in the normal range.
Diagnosis: Systemic lupus erythematosus with renal involvement and Schwenniger-Buzzi type primary macular anetoderma.
Macular anetoderma is a rare connective tissue disorder. We present a patient with Schwenninger-Buzzi clinical type and associated systemic lupus erythematosus. This patient also had cardiolipin antibodies and lupus anticoagulant.
Anetoderma can be considered as a cutaneous risk marker for a prothrombotic state due to antiphospholipid antibodies in autoimmune disorders but lupus erythematosus in particular [5, 7–10]. In the present case, the prothrombotic state was yet asymptomatic but the presence of primary anetoderma has directly led to the search for antiphospholipid antibodies.
Considering the relationship of antiphospholipid antibodies and anetoderma, it has been speculated that microthromboses could be involved in connective tissue changes . Other authors found increase activity of degrading enzyme like elastase and matrix metalloproteinases .
The lesions are arranged along the Langer’s skin tension lines. This has also been described for other dermatoses like prurigo nodularis Hyde, pityriasis rosea, mycosis fungoides, lues, psoriasis, Kaposi sarcoma or Leser-Trelat syndrome [11, 12].
The differential diagnoses include several other elastolytic disorders as mid-dermal elastolysis, post-inflammatory elastolysis with cutis laxa, actinic granuloma, oustinfallamtory elastolysis and cutis laxa, and annular elastolytic granuloma [2, 13–15].
A sufficient treatment of primary anetoderma does not exist. Colchicine and penicilline have been used in selected cases with some success . In conclusion, primary anetoderma is a cutaneous marker for antiphospholipid antibodies.