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Acta Médica Peruana

On-line version ISSN 1728-5917


ZAPATA, Junior J; NINA, Gary; ORCCOSUPA, David J  and  URRUTIA, Katya. Gaucher disease associated with T-cell lymphoma hydroa vacciniforme like: Case report. Acta méd. Peru [online]. 2019, vol.36, n.2, pp.129-133. ISSN 1728-5917.

Gaucher disease is a chronic and progressive autosomal recessive metabolic disorder that is characterized by lysosome depots with deficiency of acid glucocerebrosidase enzyme, which leads to cell damage and organic dysfunction. This condition is associated with some hematological malignancies; however, its association with lymphomas is rare. Hydroa vacciniform-like lymphoma is a rare condition per se, but it is becoming increasingly frequent in children and adolescents. It is characterized by the presence of cutaneous vesicular lesions, adenopathy, and visceromegaly. We present the case of a 12-year old girl from an Andean community in Cusco who presented with crusting vesicles, fever, face edema with eyelid ulceration, palpable lymph nodes, and hepatosplenomegaly, accompanied by pancytopenia. An enzymatic and genetic study was carried out, and both β-glucosidase deficiency and GBA gene deficiency were found. Skin biopsies revealed a dermal lymphoid infiltrate with nuclear pleomorphism compatible with hydroa vacciniform like T-cell lymphoma. Subsequently, the patient developed slight improvement with the enzyme replacement therapy, but she died because of hypovolemic shock after two episodes of low gastrointestinal hemorrhage.

Keywords : Gaucher disease; Lymphoma, non-Hodgkin; Glucocerebrosidase; Hematologic neoplasms.

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