Cutaneous Involvement in Waldenström’s Macroglobulinaemia

Abstract

Skin involvement in Waldenström's macroglobulinaemia is poorly described, and diagnosis of this disorder may be difficult. Many differential diagnoses are possible (other lymphomas, primary cutaneous lymphoma, etc.). Describing 2 aspects of Waldenström's macroglobulinaemia (infiltration by lymphoplasmacytic tumour cells or histological transformation into diffuse large B-cell lymphoma) allows the identification of clinical, histological and immunohistochemical diagnostic aids. Detection of the MYD88 L265P mutation is of interest. This study identified a characteristic clinical picture in non-transformed cases, and was able to distinguish between transformed and non-transformed cases by their severity and poor prognosis. Cutaneous involvement in Waldenström's macroglobulinaemia (WM) has been poorly characterized. To describe this involvement, a retrospective study of 19 patients with WM and cutaneous involvement of tumour B cells was performed. Twelve patients (group 1) had lymphoplasmacytic, non-transformed cutaneous proliferation, while in 7 cases (group 2) cutaneous involvement corresponded to histological transformation. In group 1, skin involvement was inaugural in 6 cases. The lesions were infiltrated plaques (83%), papules (25%) and tumours (42%). Four patients had a similar clinical picture (purplish, bilateral and symmetrical infiltration on the face). MYD88 L265P mutation was detected in the skin biopsy in all 6 cases tested. The 3-year specific survival rate was 88%. In group 2, cutaneous transformation occurred during the followup of the WM (71%). Lesions presented as ulcerated tumours (86%) of the trunk (57%) and lower limbs (57%). The 3-year specific survival rate was 22%. Skin involvement in WM has distinctive characteristics (e.g. clinical, histological, immunohistochemical, MYD88 L265P mutation).

Cutaneous B cell lymphomas: standards in diagnostic and clinical work‐up. Hints, pitfalls and recent advances

“…Most primary cutaneous cases harbour class‐switched monotypic plasma cells (IgM‐negative, IgG‐ or IgA‐positive, IgE +/– ) 13 . Expression of IgM should be an alert towards a secondary skin manifestation of lymphoplasmacytic lymphoma (LPL), 14 but can also rarely be seen in PCMZL 13 . Most PCMZL lack the MYD88 mutation typical for systemic LPL, while FAS mutations are recurrent 15,16 .…”

Cutaneous Macroglobulinosis Presenting as Serpiginous Purpura, a Case Report and Literature Review

“…MYD88 L265P mutation can be detected from skin biopsy and they can have large cell transformation, which gives a poorer prognosis. 5 …”

“…MYD88 L265P mutation can be detected from skin biopsy and they can have large cell transformation, which gives a poorer prognosis. 5 Deposition of IgM in the dermis was first termed macroglobulinemia cutis in 1978 by Tichenor et al 6 Since then, numerous case reports have identified the condition as cutaneous macroglobulinosis or IgM storage papule disease (Table 1). The clinical presentation varies from skin colored to pink papules and ulcerative nodules on trunk, extensor surfaces of upper and lower limbs to hyperkeratotic lesions on the soles.…”

A rare case of secondary cutaneous lymphoplasmacytic lymphoma clinically presenting as acquired cutis laxa

“…6 The skin involvement in WM presents with diverse morphologies, including erythematous-to-violaceous plaques, nodules, tumors, and ulcerations at various anatomical sites, with the most common site being the head and neck area. 7 Cutis laxa (CL) is a rare heterogeneous dermatologic condition that presents as loosely pendulous skin growths. Although CL is usually inherited, acquired CL can rarely develop in association with inflammatory dermatoses, infections, drug hypersensitivity reactions, or monoclonal gammopathies.…”

“…While extramedullary involvement of LPL can present in various organs, skin involvement is quite rare, accounting for approximately 5% of extramedullary WM cases 6 . The skin involvement in WM presents with diverse morphologies, including erythematous‐to‐violaceous plaques, nodules, tumors, and ulcerations at various anatomical sites, with the most common site being the head and neck area 7 …”