Disceratose congênita - relato de caso e revisão de literatura / Dyskeratosis congenita - case report and literature review

A Disceratose Congênita (DC) é uma síndrome hereditária rara que exibe marcada heterogeneidade clínica e genética, constituindo-se em anormalidades cutaneomucosas, falência medular e predisposição ao câncer. Esta é caracterizada pela tríade de pigmentação reticulada da pele, distrofia ungueal e leucoplasia em mucosas. Alterações dentárias, gastrintestinais, geniturinárias, neurológicas, oftalmológicas, pulmonares e esqueléticas associadas têm sido relatadas. A falência medular é a principal causa de morte precoce e também é descrita predisposição para doenças malignas. Afeta principalmente homens e, reconhecem-se formas recessivas ligadas ao X, autossômicas dominantes e recessivas. Relata-se o caso de um paciente de 40 anos, sexo masculino, que há 7 evolui com quadro de anemia e necessidades transfusionais (sanguíneas). Investigadas causas hemofílica e carencial sem êxito. Mielograma com normocelularidade das linhagens; solicitada biópsia de medula óssea por suspeita de Disceratose Congênita, tendo em vista sintomatologia com presença da tríade da Disceratose Congênita: leucoplasia mucosa, distrofia ungueal, e áreas de hiperpigmentação reticular. Paciente progride sob acompanhamento no serviço hematológico do Hemocentro do Pará. Em função da raridade da doença, pouco mais de 500 casos relatados no mundo, da dificuldade de se chegar ao seu diagnóstico, e de sua gravidade, é de fundamental importância a difusão do conhecimento e ratifica-se a necessidade do acompanhamento médico multidisciplinar, de modo a permitir diagnóstico e tratamento precoce das possíveis complicações.

Dyskeratosis Congenita (DC) is a rare hereditary syndrome that shows marked clinical and genetic heterogeneity, like mucocutaneous abnormalities, bone marrow failure and predisposition to cancer. Dyskeratosis congenita triad is: abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Dental, gastrointestinal, genitourinary, neurological, ophthalmic, pulmonary and skeletal disorders have been reported. The leading cause of early death and an additional predisposition to malignancy is bone marrow failure. Dyskeratosis congenita mainly affects men and recessive X-linked, autosomal dominant and recessive forms are recognized. We report the case of a 40-year-old male, 7 years evolving symptoms of anemia and transfusion requirements. Unsuccessfully research by deficiency causes and hemophilia were done. Normal cellular lineages myelogram. Patient progresses under supervision of Hemocenter of Pará (HEMOPA). Depending on the rarity of the disease, little more than 500 cases reported worldwide, the difficulty of arriving at a diagnosis, and its severity, is crucial to spreading knowledge and it confirms the need for a multidisciplinary approach, the to enable early diagnosis and treatment of possible complications.

Marrow hypoplasia: a rare complication of untreated Grave’s disease / Hipoplasia de medula óssea: uma rara complicação da doença de Graves não tratada

Atypical presentation forms of hyperthyroidism are always a challenge to the clinician. We present a female patient with the typical symptoms of thyrotoxicosis, without any thionamides treatment before, associated with pancytopenia, which recovered after euthyroidism state was achieved. Although the major cases of pancytopenia in Grave’s disease are seen as a complication of antithyroid drugs (thioamides), in this case report the alteration in blood tests was associated with untreated hyperthyroidism. In the literature review, we found 19 case reports between 1981 to 2012, but it has been related to a hypercellular bone marrow with periferic destruction. Our case, however, is about a hypocellular bone marrow without fibrosis or fat tissue replacement, which proceeded with a periferic improvement following thyroid treatment. Although rare, pancytopenia, when present, may develop as an unusual and severe manifestation in untreated subjects.

Formas atípicas de apresentação do hipertireoidismo são sempre um desafio para o clínico. Apresentamos uma paciente do sexo feminino, com sintomas típicos de tireotoxicose associado a um quadro de pancitopenia sem nenhum tratamento prévio com tionamidas. A melhora da alteração hematológica ocorreu após recuperação do eutireoidismo. Embora a maioria dos casos de pancitopenia na doença de Graves seja uma complicação das drogas antitireoidianas (tionamidas), neste caso a alteração hematológica foi associada ao quadro de hipertireoidismo não tratado. Após uma revisão na literatura, encontramos 19 relatos de caso descritos no período de 1981 a 2012, nos quais o quadro de pancitopenia estava relacionado à hipercelularidade medular com destruição periférica das células sanguíneas. Nosso caso, entretanto, trata-se de uma pancitopenia com medula óssea hipocelular, sem infiltração por tecido adiposo ou fibrose, que evoluiu com melhora dos elementos do sangue periférico após tratamento do hipertireoidismo. Embora rara, a pancitopenia, quando presente, pode se manifestar como uma severa manifestação se não tratada a condição desencadeadora.

Persistent Anemia in a Patient with Diffuse Large B Cell Lymphoma: Pure Red Cell Aplasia Associated with Latent Epstein-Barr Virus Infection in Bone Marrow

We report a case of pure red cell aplasia (PRCA), which was initially suspected as a result of bone marrow involvement of diffuse large B cell lymphoma. Persistent anemia without an obvious cause was observed in a 47-yr-old man diagnosed with relapsed diffuse large B cell lymphoma. The bone marrow study showed only erythroid hypoplasia without the evidence of bone marrow involvement with lymphoma cells, thus PRCA was suggested. However, parvovirus infection was excluded as a potential cause of PRCA because of negative IgM anti-parvovirus B19 antibody and negative parvovirus PCR in the serum. Latent Epstein-Barr virus (EBV) infection of bone marrow was suggested by in situ hybridization with EBV-encoded small RNA (EBER) that showed a strong positive expression in bone marrow cells. Thus, PRCA was thought to be associated with latent EBV infection in bone marrow cells. Although the finding of unexplained anemia is a possible predictor of bone marrow involvement with lymphoma cells, PRCA as a result of a viral infection including EBV should be considered in lymphoma patients. This is the first report of the occurrence of PRCA associated with latent EBV infection in a patient with non-Hodgkin's lymphoma.

Clinical profile in gelatinous bone marrow transformation.

OBJECTIVE: To study the clinical spectrum associated with gelatinous bone marrow transformation (GMT). METHODS: All subjects whose bone marrow aspiration showed pink purple material on Leishman stain underwent a detail history, clinical examination and investigation (biochemical/microbiological/radiological). Additionally, in each subject the smear was stained with special stains of Periodic Acid Schiff and Alcian blue. RESULTS: Out of total 1498 marrows, 65 showed evidence of GMT. All of these had anaemia. The associated clinical spectra of diseases noticed were: Infection (31 cases), Nutritional deficiency (5 cases), Haematological disorders (Aplastic/toxic depression) (17 cases), Malignancies (3 cases), and Miscellaneous (9 cases). CONCLUSION: Based on the heterogenecity of associated clinical disorders, GMT indicates severe illness and not a particular disease. GMT may be a result of bioregulatory process (which presently needs further prospective studies) that are activated in different pathologic conditions but resulting in similar lesion in the bone marrow and so till then it may be concluded that GMT is a symptom of bone marrow.

Hodgkin's disease with bone marrow involvement.

Bone marrow involvement was seen in 11 percent of patients with Hodgkin's Disease which was determined from pre-treatment biopsy specimens using established histopathologic criteria. Analysis of 32 evaluable patients with marrow involvement showed male preponderance with a peak in fourth decade of life. Twenty four cases (75%) had B-symptoms and 15 (46%) presented within six months of onset of symptoms. On categorizing for clinical staging, 21 (65%) belonged to stage III and IV. Hepatomegaly (greater than or equal to 2 cms) was present in seven cases (21%) and splenomegaly in 13 cases (40%). Mixed cellularity and lymphocytic depletion histopathologic subtypes showed the highest frequency of involvement (21 cases; 65%). Out of 28 cases ESR was raised in 27 cases (96%). Eighteen cases (56%) showed elevated serum alkaline phosphatase levels. Serum copper levels were determined in 14 cases, out of which 12 (85%) showed elevated levels. These parameters along with anemia (hemoglobin of 12 g/dl or less) in 26 cases (81%), correlated well with the disease activity. Only four cases had leukopenia at presentation pointing to no hindrance for aggressive chemotherapy. All cases received minimum of six courses of standard combination chemotherapy with or without local radiotherapy. Sixteen cases (50%) relapsed subsequently and were managed accordingly. A five year follow-up revealed a minimal 31 percent overall survival, and 18 percent of patients were disease free and well since the time of treatment.(ABSTRACT TRUNCATED AT 250 WORDS)

Adrenal carcinoma with reactive plasmacytosis.

An 18 year old boy presented with anaemia, congestive cardiac failure and a 'renal mass'. Preoperative and post-operative investigations demonstrated "reactive plasmacytosis" with antibodies directed against a non-functioning adrenal carcinoma. Existing literature on reactive plasmacytosis and anti-tumour antibodies is summarised.