Iniencephaly with cyclopis (a case report)

Iniencephaly is a rare neural tube defect. We report a rare association of iniencephaly with cyclopia, probably the third such report in the literature.     

Sacral chordoma--a case report

Chordoma, a rare malignant tumour of early adulthood, rarely presents in children. We report such a case of rare malignant tumour which was diagnosed in the first decade of life.     

Primary epithelioid angiosarcoma of the adrenal gland

Primary angiosarcomas of the adrenal gland are exceptionally rare vascular tumors. We report a case of a 63-year-old man with an epithelioid angiosarcoma of the left adrenal gland. Visualized on computed tomography as a nonhomogeneous round mass, the tumor measured 3 cm in diameter. Histology showed a vascular tumor composed of epithelioid cells with vesicular nuclei and prominent nucleoli that lined irregular vascular spaces and also formed solid areas and showed pleomorphism and rare mitotic activity. Immunohistochemical stain confirmed the diagnosis of epithelioid angiosarcoma. We report our findings and review previously described literature cases of this rare entity.     

The burden of rare diseases

The subject of rare disease numbers is rife with misconceptions, not just in websites and other layman's literature, but also in the medical literature. Various websites mention numbers that are not validated by any solid data, while in turn the medical literature cites the aforementioned websites as sources, thus perpetuating a number of myths about rare diseases and their burden. We review the existing literature on rare disease numbers, in an attempt to demystify the subject. Specifically, we summarize data pertaining to: (a) known number and cumulative prevalence of rare diseases; (b) rare disease‐associated mortality; (c) rare disease‐associated morbidity, including numbers on health care services related to rare diseases; and (d) orphan drug numbers.     

Pilomatrix carcinoma: case report and review of literature

We report the case of a 57-year-old immunocompromised man with a pilomatrix carcinoma in his left forearm. Pilomatrix carcinoma is the rare malignant counterpart of pilomatrixoma. It has a potential for local recurrence and can metastasise to distant sites. We discuss the differential diagnosis of this rare tumour, and the difficulty in distinguishing this lesion from an atypical proliferating pilomatrixoma. Ultrastructural features of pilomatrix carcinoma are also discussed.     

Asymptomatic hepatobiliary cystadenoma of the hepatic caudate lobe: a case report

Human hepatobiliary cystadenoma is a rare benign cystic tumor of the liver, and is extremely rare in the caudate lobe. We herein present a case of a 70-year-old male with a hepatobiliary cystadenoma originating from the caudate lobe.     

Amyloid goitre: a case report

Amyloid goitre is an exceedingly rare condition associated with a clinically apparent enlargement of the thyroid gland due to massive amyloid infiltration. We hereby report an additional case of this rare entity.     

Renal leiomyoma

Renal leiomyomas are rare benign tumours, which are usually small in size and incidentally discovered in most of cases. We report a case of giant renal leiomyoma encasing the right kidney in a 55 year old lady. We review the spectrum of features seen in reported leiomyomas on imaging and gross appearance. We discuss the differential diagnosis and highlight the fact that renal leiomyoma, although rare, must be considered in the differential diagnosis of spindle cell lesions of the kidney and that this tumour may present as a huge renal mass.     

Alveolar soft part sarcoma presenting as a breast mass in a 13‐year‐old female

Adolescent patients with breast lesions represent a unique population of patients whose differential diagnoses differ from adults. We report a clinically unsuspected case of alveolar soft part sarcoma (ASPS) presenting in the breast of a 13‐year‐old female. ASPS is a rare neoplasm that is usually present in the head, neck, or lower extremities. This rare case presentation gives us the opportunity to review the differential diagnosis of adolescent breast lesions. We also will review diagnostic features of ASPS on fine‐needle aspiration. These are relatively rare disease processes about which many cytopathology professionals may be unfamiliar. Diagn. Cytopathol. 2009. © 2008 Wiley‐Liss, Inc.     

Soft tissue amyloidoma with features of plasmacytoma: a case report and review

Soft tissue amyloidoma is rare, and soft tissue amyloidoma associated with plasmacytoma and without evidence of systemic amyloidosis is even more rare. We report a case of soft tissue amyloidoma associated with an apparently localized monoclonal proliferation of plasma cells (plasmacytoma).     

Pigmented trichoblastoma: report of a rare case

Trichoblastoma is a rare benign skin appendage tumour with follicular differentiation. Pigmented variant of trichoblastoma is an extremely uncommon tumour and only three cases have been described in the literature. We report a rare case of pigmented trichoblastoma in a 54-year-old female.     

A case report of a papillary fibroelastoma arising from the left ventricular outflow septum just beneath the aortic valve

Cardiac papillary fibroelastomas are rare benign tumors with frond-like growths that typically involve the native valve tissue. Papillary fibroelastomas originate less commonly in the ventricular septum. We report a rare case of fibroelastoma arising from the left ventricle.     

To what extent do scans of non-synonymous SNPs complement denser genome-wide association studies?

Several studies involving genome-wide scans of non-synonymous SNPs (nsSNPs) have successfully identified loci contributing to common complex diseases. We were interested in the extent to which these small scans involving a few thousand non-synonymous markers might complement the results from denser genome-wide association studies. We assessed the degree to which three commercially available genome-wide marker panels tagged nsSNPs on the Illumina HumanNS-12 BeadChip, a product specifically designed to capture non-synonymous variation. We demonstrate that commercially available genome-wide panels already tag the majority of common non-synonymous variants on the NS-12 BeadChip, indicating that with respect to capturing common non-synonymous variation, information from the NS-12 BeadChip is largely redundant. In contrast, genome-wide panels fail to capture most of the rare SNPs present on the NS-12 BeadChip. Power calculations reveal that non-synonymous scans involving sample sizes typical of the current wave of genome-wide association studies are unlikely to identify rare variants of small effect, but could conceivably identify rare variants of intermediate penetrance. We conclude that non-synonymous scans may facilitate the identification of rare variants of intermediate penetrance that would not otherwise be detectable using dense genome-wide panels, but are unlikely to uniquely identify common variants contributing to complex disease variation.     

Adenomyoepithelioma of the breast: a potential diagnostic pitfall on fine needle aspiration cytology

Adenomyoepithelioma is a rare myoepithelial cell-rich tumour of the breast. We report a case of adenomyoepithelioma in a 60-year-old female, where it evoked the suspicion of a carcinoma on fine needle aspiration cytology (FNAC) smears and also review the literature on FNAC diagnosis of this rare tumour.     

Mucinous cystadenoma of the renal pelvis with malignant transformation: a case report

A mucinous cystadenoma of the renal pelvis with malignant transformation is an extremely rare entity. We discuss one such rare occurrence in a 62 year old female who developed mucinous nephrosis due to marked retention of mucin produced by the tumor.     

Acid-fast bacilli positive isolated tubercular splenic abscess in a HIV-negative patient

Isolated splenic tubercular abscess in a HIV-negative patient is an exceedingly rare clinical condition. It is even more rare to demonstrate acid-fast bacilli positivity on Ziehl-Neelson stains in such cases. We hereby present one such case.     

Familial occurrence of isolated right ventricular hypoplasia

Isolated right ventricular hypoplasia is a rare congenital anomaly. This condition is usually associated with a communication between the atria in the form of a patent foramen ovale or secondum atrial septal defect. We describe a familial occurrence of this rare disease. A 1-day-old male child and his 34-year-old father were found to have isolated right ventricular hypoplasia with atrial septal defect. An autosomal dominant mode of inheritance is likely for this rare congenital anomaly.     

Unusual presentation of pericardial effusion

Cough syncope is classically described in patients with chronic obstructive pulmonary disease, and it is quite rare to find a treatable condition for the same. However, it is extremely rare to have cough syncope due to pericardial effusion. We present a case of pericardial effusion who presented to the intensive care with cough syncope.     

Radiation-associated extraskeletal osteosarcoma of the chest wall

Radiation-associated sarcoma is a rare but potential complication of radiation therapy. Most reported cases of osteosarcoma of the chest wall following radiation therapy for breast cancer arise from the chest wall skeletal structures. In contrast, few cases of extraskeletal osteosarcomas have been reported. We report a rare example of an extraskeletal osteosarcoma involving the pectoralis major muscle occurring after radiation therapy for breast cancer. Extraskeletal osteosarcomas are rare soft tissue tumors with a high rate of local recurrence and a poor prognosis.     

Fraser syndrome

Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly and abnormal genitalia. The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy. We present the autopsy findings of a rare case of Fraser syndrome in a male infant.