Fanconi anaemia is a rare and most common form of inherited aplastic anaemia. It is mostly autosmal (except one x link) recessive disorder characterized by diverse congenital malformations, progressive pancytopenia, and predisposition to both haematological malignancy and solid tumours. Congenital malformation varies from patient to patient and may affect the skeletal system as well as organ systems. Highly variable phenotypic presentation with clinical menifestations makes difficult for diagnosis in some cases. Chromosomal breakage study induce by Mitomycin-C (MMC)/Diepoxybutane(DEB) provide a unique cellular marker for the diagnosis.The incidence of FA is approximately 1 to 5 per million. In Bangladesh, so far no study or even any case was reported. In this case report, a two years nine months old male child presented with generalized weakness , recurrent episodes of fever and physical deformities. It was found him short stature, microcephaly, trianguler face,generalized hyperpigmentation with café au lait spots,absent both thumbs with flexor deformity of both wrists. Peripheral smear found bicytopenia, bone marrow aspiration and biopsy showed hypoplastic marrow mildly elevated LDH, X-ray and USG showed bone and organ agenesis and chromosomal breakage study is also positive.

Hematologic malignancies can present with various cutaneous manifestations. These include specific cutaneous diseases & non-specific cutaneous lesions. Non-specific skin lesions are more common in patients with hodgkins diseases. Generalized severe pruritus may precede other findings of Hodgkins disease by many months . So an evaluation for underlying lymphoma should be considered in patient with severe itching. Leukemia cutis (specific skin lesions of Leukemia) most commonly occurs concomitant with or following the diagnosis of leukemia. The skin may also be the site of relapse of leukemia after chemotherapy. Uncommonly leukemia cutis may be identified while the bone marrow & peripheral blood are normal. Those patients are classified as aleukemic leukemia cutis. This cross sectional observational study was carried out in the Hematology department of Bangabandhu Sheikh Mujib Medical University from January 2012 to January 2013 with the intention to know the prevalence of skin manifestations of hematologic malignancies & to help diagnose and manage hematologic malignancies in some extent. Total 127 consecutive patients who were already diagnosed as haematological malignancies & hospitalized were evaluated at the period of one year. Different types of cutaneous lesions were found in our study population, Infections were the highest number, 32(25.19%) patients suffering from various infections. Other findings includemalignant infiltration, 10(7.87%); hemorrhagic 121 lesions (petechia and ecchymosis), 17(13.38%); drug reaction, 5(3.93%); gingival hyperplasia, 3(2.36%); pruritus, 23(18.11%); pigmentation, 20(15.74%); prurigo, 8(6.29%) and ichthyosiform lesion, 19(14.96%).Bangladesh Med J. 2014 Sep; 43 (3): 121-124

Leukemia and Lymphoma can present with various cutaneous manifestations. These include specific cutaneous diseases and non-specific cutaneous lesions. Non-specific skin lesions are more common in patients with Hodgkins diseases. Leukemia cutis (specific skin lesions of Leukemia) most commonly occurs concommitent with or following the diagnosis of leukemia. The skin may also be the site of relapse of Leukemia after chemotherapy. Uncommonly leukemia cutis may be identified while the bone marrow and peripheral blood are normal. Those patients are classified as aleukemic leukemia cutis. The objective of this study is to know the prevalence of skin manifestations of hematologic malignancies and to help the diagnosis and management of hematologic malignancies in some extent. It is a cross sectional observational study in which the skin lesions of the patients in hematologic malignancies who were already diagnosed & hospitalized in the hematology department of Bangabandhu Sheikh Mujib Medical University were evaluated in the period of one year. We found malignant infiltrative lesions & hemorrhagic findings both were predominate in leukemia. Infections were predominant in both Leukemia & Lymphoma. CBMJ 2015 July: Vol. 04 No. 02 P: 31-34

Autoantibody mediated acquired haomophilia is a rare disease. Hereditary haemophilia usually presents with traumatic or spontaneous bleeding in a young male with positive family history in maternal side.In this case study we described an elderly male patient presenting with short history of recurrent ecchymosis with no similar history in the past and no family history of similar illness. He ultimately turned out to be a case of acquired haemophilia due to SLE.

Background: Haemophilia is a sex-linked bleeding disorder. Affected patients suffer spontaneous or post-traumatic bleeding into various sites of the body, mainly into joints, depending on the level of coagulation factor deficiency. Recurrent joint bleeds lead to progressive disability. Susceptibility to joint haemorrhage in persons with haemophilia suggests that the routine assessment of joint health is an important aspect of clinical management and outcome studies assessing the efficacy of treatment. Aim: The aim of the study was to assess of joint health status in haemophilia patients attending in a tertiary care hospital, Bangladesh. Methodology: A descriptive observational study was carried out in the department of Haematology, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka. A total number of 45 patients who were attended in OPD and IPD, meeting inclusion and exclusion criteria of enrolled haemophilia patients, were included in the study. Joint assessment or any kind of joint impairment was assessed by the Haemophilia Joint Health Score (HJHS) score 2.1 version (an eight-item scoring tool for assessing joint impairments of the six index joints in boys with haemophilia aged 4–18 years. Clinical and laboratory information was recorded with a semi structured questionnaire. Result: Among 45 haemophilia patients, the mean age was 12.9±3.4 years while males were predominant (91.1%). Majority (80.0%) of the patients (36) were diagnosed as haemophilia A.  This study observed that, 48.9% of the patients had moderate and 28.9% had severe haemophilia. Knee joint was the predominant target joint. Left knee joint involved in 80% cases and right knee joint were involved in 55.6% of patients. The mean global gait score was found 1.49±0.66 and mean HJHS score was 15.8±4.4. There was no significant correlation between HJHS score and severity of haemophilia (r= -0.081; p=0.596) while significant correlation between the ages of patient with HJHS score (r=0.536; p=0.001) was observed. Conclusion: Haemophilia is a debilitating and life-threatening disease that affects mostly knee, ankle and elbow joints. The joint evaluation system is of paramount importance in clinical practice which is capable to prevent major haemarthrosis and chronic haemophilic synovitis. Haemophilia Joint Health Score (HJHS) is an effective and reliable tool to detect early and subtle changes in joint health and function. This study finding will help in future to assess early the joint conditions and complications, which will assist to modify the treatment approach on demand and start prophylaxis.