A 40-day-old baby girl presented with intermittent fever, lymphadenopathy, massive hepatosplenomegaly, progressive pancytopenia and features of disseminated intravascular coagulopathy. A bone marrow aspiration was performed and showed florid histiocytic proliferation with marked hemophagocytosis. Based on the diagnostic guideline for Hemophagocytic Lymphohistiocytosis proposed by the Familial Hemophagocytic Lymphohistiocytosis Study Group of Histiocyte Society, this patient has fulfilled most of the criteria. We have also found that serum ferritin and lactate dehydrogenase to be very high in this patient. It remains uncertain whether the disorder is reactive or neoplastic.
A 27-year-old Indian woman at 23 weeks' gestation presented with decompensated liver cirrhosis, coagulopathy, restrictive lung disease with cor pulmonale and preeclampsia. She was diagnosed to have sea-blue histiocyte syndrome (SBHS) at the age of 13 years and was treated conservatively. There was worsening liver, respiratory and bone marrow function as the pregnancy progressed. She underwent a successful pregnancy despite her poor medical condition and advanced disease state. We described the first case of familial SBHS in a pregnant patient from Asia.
Cytophagic histiocytic panniculitis (CHP) is a recently recognized entity that frequently poses a perplexing diagnostic problem. Although the classical case presents with a relapsing fever, subcutaneous nodules, pancytopenia and liver dysfunction, most patients have in addition a multitude of other manifestations which confuse the clinical picture. Notwithstanding the variable clinical course, the disease frequently terminates in fatal hemorrhage. Diagnosis is based on histological features. A lobular panniculitis with an infiltrate of cytologically benign cytophagocytic histiocytes in skin nodules is the sine qua non of CHP. Hence, a deep skin biopsy which includes subcutaneous fat is mandatory to establish the diagnosis. Published information regarding this newly described entity remains scarce and we report two cases of CHP, one occurring in a 30-year-old Kadazan man and another in a 17-year-old Chinese woman seen at the University Hospital, Kuala Lumpur. The latter case presented with exudative ascites, an unusual feature, possibly due to intra-abdominal panniculitis. In addition, we record the development of cirrhosis in the same patient.
Langerhans Cell Histiocytosis (LCH) is an uncommon neoplastic disorder characterized by accumulation of histiocytes in various tissues. The clinical manifestation is highly variable, ranging from an isolated skin rash or a single bony lesion, to fatal multi-organ failure. Due to its rarity and systemic involvement, the epidemiology of LCH is still not fully understood and most studies focus on the paediatric population. The extent of clinical involvement has important prognostic implications. Treatment options may be local or systemic depending on disease extent. Here we describe a rare case of adult onset LCH who presented with recurrent pneumothoraces, diabetes insipidus and papules and plaques over the scalp and forehead.
A 5-year-old Mongrel was brought presented with the complaint of having serosanguineous discharge from penis for a month since adoption. Physical examination revealed cauliflower-like mass at the bulbus glandis. Presence of numerous anisokaryotic and anisocytotic round to oval histiocytes with multivacuolated cytoplasm from cytology, an evidence of canine transmissibale venereal tumour (CTVT). The mass was successfully surgically resected using electrocautery and was in remission for 12 months (since January 2019).
Langerhans cell histiocytosis (LCH) is rarely encountered in ophthalmology practice. It is a spectrum of disorder characterized by accumulation of histiocytes in various tissues. Diagnosis is challenging as it may simulate periorbital hematoma, rhabdomyosarcoma, and neuroblastoma. We report a case of unifocal LCH with orbital extension. Diagnosis was obtained from incisional biopsy, and histopathological examination showed numerous histiocytes with eosinophilic infiltrations. The presence of Langerhans cells was confirmed by the presence of protein S-100, CD1a, and/or Langerin (CD207). Treatment depends on the degree of organ involvement. She responded well to cytotoxic drugs and steroids. This emphasized that prompt tissue diagnosis is crucial for early management.
Mature cystic teratoma is the commonest ovarian germ cell tumour which accounts for 70% of all benign ovarian neoplasms in the reproductive age groups. Being a pluripotent germ cell tumour, mature cystic teratoma has at least two out of three mature embryonic germ cell components: ectoderm, mesoderm and endoderm. The presence of multiple cystic spaces within the tumour wall, also known as pneumatosis cystoides-like appearance is rarely described but a characteristic feature in cystic teratoma of the ovary. Currently, there is little information concerning the mechanism of its formation. Herein, we described an unusual case of ovarian mature cystic teratoma in a 31-year-old pregnant female with multiple sieve-like areas resembling pneumatosis cystoides of the intestine. Macroscopic and histological examination of the ovary revealed features diagnostic of mature cystic teratoma. Intriguingly, multiple cystic spaces of variable sizes were found within the cyst wall histologically. They were lined partially or completely by foamy histiocytes and foreign body type multinucleated giant cells, exhibiting strong CD68 immunoreactivity. Vascular endothelial markers (CD31 and CD34) and epithelial marker (cytokeratin AE1/AE3) were negative. A diagnosis of mature cystic teratoma with pneumatosis cystoides-like feature was rendered. The patient was discharged well with no signs and symptoms of early labour. The etiopathogenesis of this intriguing histological feature is briefly discussed in this article.
Secondary sea-blue histiocytosis occurs more frequently than the primary form and occurs consequent to a wide range of metabolic and haematologic disorders including thalassaemia. We report an 18-year-old Chinese boy with transfusion-dependent HbE-beta thalassaemia who complained of pain and swelling at the left iliac crest region for 2 months duration. Physical examination revealed pallor with hepatosplenomegaly. Local examination revealed a huge swelling 12 cm × 12 cm in diameter, firm in consistency and tender. Histopathological examination of the mass revealed an osteosarcoma. His bone marrow aspirate showed numerous sea-blue histiocytes, the cytoplasm of which was closely packed with fine granules that stained blue with May-Grunwald-Giemsa. The nuclei were centrally located in some cells and displaced towards the periphery in other cells. There was no malignant cell infiltration in the marrow. The case is reported due to the co-incidental dual pathology in our patient (HbE-beta thalassaemia and osteosarcoma) and the unusual bone marrow finding of numerous sea-blue histiocytes.