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1.
Acta Derm Venereol ; 100(15): adv00225, 2020 Aug 17.
Article in English | MEDLINE | ID: mdl-32488284

ABSTRACT

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 follow-up 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).


Subject(s)
Waldenstrom Macroglobulinemia , Humans , Mutation , Myeloid Differentiation Factor 88/genetics , Retrospective Studies , Skin , Waldenstrom Macroglobulinemia/diagnosis , Waldenstrom Macroglobulinemia/genetics
4.
Eur J Med Genet ; 52(4): 229-33, 2009.
Article in English | MEDLINE | ID: mdl-19401242

ABSTRACT

Leukonychia is an ungueal discoloration or dyschromia. The hereditary form is rare. In the observations reported in the literature, leukonychia was total or sub-total, and was sometimes associated to other various symptoms. We report an original observation of hereditary leukonychia totalis in a father and two of his children, associated with acanthosis-nigricans-like lesions and hair dysplasia. These symptoms were also present in eight other members of the same family.


Subject(s)
Acanthosis Nigricans/complications , Hair/abnormalities , Nail Diseases/genetics , Acanthosis Nigricans/pathology , Child , Fathers , Female , Genes, Dominant , Hair/ultrastructure , Humans , Male , Nuclear Family , Pedigree , Syndrome
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