Cutaneous Plasmacytosis: Diagnostic and Therapeutic Challenge in a Patient with an Atypical Presentation

Gustavo Moreira Amorim; Ariel Córdova Rosa; Joana Buratto; Solange Emanuelle Volpato Steckert; Roberto Moreira Amorim Filho; Gabriella Di Giunta Funchal

doi:10.29021/spdv.79.3.1367

Cutaneous Plasmacytosis: Diagnostic and Therapeutic Challenge in a Patient with an Atypical Presentation

Revista da Sociedade Portuguesa de Dermatologia e Venereologia ◽

10.29021/spdv.79.3.1367 ◽

2021 ◽

Vol 79 (3) ◽

pp. 269-272

Author(s):

Gustavo Moreira Amorim ◽

Ariel Córdova Rosa ◽

Joana Buratto ◽

Solange Emanuelle Volpato Steckert ◽

Roberto Moreira Amorim Filho ◽

...

Keyword(s):

Rare Disease ◽

Young Patients ◽

Atypical Presentation ◽

Therapeutic Challenge ◽

Atypical Manifestation

Cutaneous plasmacytosis is a rare dermatosis that is classically characterized by the presence of multiple papules and reddish- -brown nodules mainly in the trunk. It most commonly affects elderly Asians, with few reports in Caucasians and young patients. On histopathology there is a polyclonal proliferation of mature plasm cells. The objective of this report is to present a case of atypical manifestation of this rare disease, both due to clinical and epidemiological aspects.

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A Case Presentation of a Diagnostic Dilemma. An Atypical Presentation of a Rare Disease, Cardiac Sarcoidosis

Heart Lung and Circulation ◽

10.1016/j.hlc.2016.06.491 ◽

2016 ◽

Vol 25 ◽

pp. S208-S209

Author(s):

E. Nehme ◽

J. Riskallah ◽

D. Burgess ◽

A. Kanthan

Keyword(s):

Rare Disease ◽

Cardiac Sarcoidosis ◽

Atypical Presentation ◽

Diagnostic Dilemma ◽

Case Presentation

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Human pulmonary dirofilariasis: atypical presentation of a rare disease

Revista da Sociedade Brasileira de Medicina Tropical ◽

10.1590/s0037-86822006000100021 ◽

2006 ◽

Vol 39 (1) ◽

pp. 94-95 ◽

Cited By ~ 2

Author(s):

Ricardo Jorge Vital ◽

Leandro Accardo de Mattos ◽

Gustavo Souza Portes Meirelles

Keyword(s):

Rare Disease ◽

Atypical Presentation ◽

Pulmonary Dirofilariasis

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Fibrolamellar Hepatocellular Carcinoma and Noncirrhotic Hyperammonemic Encephalopathy

Case Reports in Hepatology ◽

10.1155/2018/7521986 ◽

2018 ◽

Vol 2018 ◽

pp. 1-6 ◽

Cited By ~ 3

Author(s):

Oscar Suarez ◽

María Perez ◽

Martin Garzon ◽

Rodrigo Daza ◽

Geovanny Hernandez ◽

...

Keyword(s):

Hepatocellular Carcinoma ◽

Weight Loss ◽

Clinical Presentation ◽

Young Patients ◽

Fibrolamellar Hepatocellular Carcinoma ◽

Underlying Liver Disease ◽

Hyperammonemic Encephalopathy ◽

Cadaver Donor ◽

Atypical Manifestation ◽

Donor Transplant

Fibrolamellar hepatocarcinoma is an infrequent liver tumor, currently considered to be a variant different from hepatocarcinoma. The differences lie in genomic alterations, a greater prevalence of fibrolamellar hepatocarcinoma in young patients, and its lack of association with underlying liver disease. The clinical presentation is unspecific, with symptoms ranging from abdominal pain, malaise, and weight loss to atypical manifestation which include hyperammonemic encephalopathy. We present the case of a 33-year-old woman with no prior medical history who presented with a coma and a diagnosis of inoperable fibrolamellar hepatocarcinoma requiring a cadaver donor transplant. While she was on the waiting list, she received hemofiltration and ammonium benzoate treatment, with progressive improvement in her state of consciousness.

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Hyperparathyroidism Jaw Tumor Syndrome Presenting as Recurrent Femur Fractures in a Young Woman; a Rare Presentation of a Rare Disease

Case Reports in Endocrinology ◽

10.1155/2020/9298147 ◽

2020 ◽

Vol 2020 ◽

pp. 1-4

Author(s):

Piyumi S. A. Wijewickrama ◽

Noel P. Somasundaram

Keyword(s):

Primary Hyperparathyroidism ◽

Parathyroid Adenoma ◽

Rare Disease ◽

Young Patients ◽

Clinical Manifestations ◽

Rare Presentation ◽

Femur Fractures ◽

High Calcium ◽

Risk Of Malignancy ◽

Exon 1

Background. Primary hyperparathyroidism usually occurs secondary to parathyroid adenoma, multiglandular hyperplasia, or parathyroid carcinoma. The patients usually present with incidentally discovered high calcium level and systemic or skeletal manifestations. In young patients with primary hyperparathyroidism, familial syndromes including multiple endocrine neoplasia types 1, 2, and 4 and hyperparathyroidism jaw tumor syndrome should be considered. Case Description. We present a case of a 22-year-old Sri Lankan woman who presented with femur fractures in a background of childhood nephroblastoma and maxillary fibro-osseous tumor. The patient had biochemical parameters suggestive of primary hyperparathyroidism with a parathyroid mass. The histology following excision of the mass revealed a parathyroid adenoma. Based on the associated clinical manifestations, hyperparathyroidism jaw tumor syndrome was suspected, and genetic studies reported a positive CDC73 mutation with a whole-gene deletion of exon 1–17. Conclusion. Hyperparathyroidism jaw tumor syndrome is an important diagnosis to consider in a young patient presenting with classic clinical features due to the risk of malignancy, familial involvement, and need to monitor for progressive systemic manifestations. As this is a rare disease, it can often be missed due to low degree of suspicion and the ability of the jaw tumor to mimic a metastatic deposit.

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Eosinophilic fasciitis: an atypical presentation of a rare disease

Revista da Associação Médica Brasileira ◽

10.1590/1806-9282.65.3.326 ◽

2019 ◽

Vol 65 (3) ◽

pp. 326-329

Author(s):

Catia Cabral ◽

António Novais ◽

David Araujo ◽

Ana Mosca ◽

Ana Lages ◽

...

Keyword(s):

Rare Disease ◽

Rare Case ◽

Unknown Etiology ◽

Eosinophilic Fasciitis ◽

Atypical Presentation ◽

Peripheral Eosinophilia ◽

First Line ◽

Erythrocyte Sedimentation ◽

High Doses ◽

High Erythrocyte Sedimentation Rate

SUMMARY Eosinophilic fasciitis, or Shulman's disease, is a rare disease of unknown etiology. It is characterized by peripheral eosinophilia, hypergammaglobulinemia, and high erythrocyte sedimentation rate. The diagnosis is confirmed by a deep biopsy of the skin. The first line of treatment is corticotherapy. We present a rare case of eosinophilic fasciitis in a 27-year-old woman with an atypical presentation with symmetrical peripheral edema and a Groove sign. The patient responded well to treatment with corticosteroids at high doses and, in this context, was associated with hydroxychloroquine and azathioprine. After two and a half years, peripheral eosinophilia had increased, and more of her skin had hardened. At that time, the therapy was modified to include corticoids, methotrexate, and penicillamine. It is of great importance to publicize these cases that allow us to gather experience and better treat our patients.

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