Xanthoderma: an unusual presentation of hypothyroidism.

A young woman presented with progressive yellowing of her skin over a period of six months. Liver function tests were requested by her general practitioner and the results prompted the Chemical Pathology Department to instigate further tests to reach the final diagnosis. Hypercarotenaemia had caused her yellow skin, and various other biochemical abnormalities pointed towards primary hypothyroidism as an underlying cause. Thyroxine replacement treatment successfully corrected all the biochemical abnormalities including hypercarotenaemia. As far as is known, yellow skin as a sole presenting feature of hypothyroidism is extremely rare.     

Pulmonary aspergillosis: an unusual cytologic presentation.

Cytologic identification of Aspergillus is usually based on recognition of hyphal elements; conidia are rarely seen. We report a case of autopsy-proven pulmonary Aspergillosis which was studied antemortem by bronchoalveolar lavage. This mass arose in the clinical setting of chronic necrotizing pulmonary aspergillosis. The specimen contained numerous conidia, some of which exhibited germination. No hyphae were seen. This unusual cytologic expression of clinically significant fungal disease could be easily overlooked. Distinction of Aspergillus conidia from contaminating pollen is discussed.     

Multiple endocrine neoplasia type 2A: an unusual clinical presentation and association with renal dysplasia

We report what we believe to be the first case of a patient with multiple endocrine neoplasia type 2A (MEN 2A) and renal dysplasia associated with an RET 634 mutation. The proband presented at the age of 29 with medullary thyroid carcinoma (MTC), bilateral pheochromocytomas, and primary hyperparathyroidism. Screening of family members identified the syndrome in his father. Both the proband and his father carry RET 634 germline mutation resulting in cysteine to arginine amino acid substitution. The proband had a left nephrectomy at the age of 10 years. Histologic examination of the resected kidney revealed severe dysplasia. His father had normal renal tract on ultrasonography. The proband's clinical presentation was unusual, and initially thought to be an atypical pneumonia. Surgical management after pharmacologic alpha- and beta-blockage consisted of bilateral adrenalectomy, total thyroidectomy, and subtotal parathyroidectomy as a single procedure.     

Dural cavernous sinus fistula: an unusual presentation.

This article describes a 22-year-old man who presented to the Howard University Hospital emergency room with acute onset of swelling, proptosis, and decreased vision in the right eye preceded by 24 hours of nausea and vomiting. The patient''s visual acuity was count fingers in the involved eye with marked proptosis and limitation of ocular motility. There was no history given of any ocular or head trauma. A computed tomography scan of the orbits showed diffuse symmetric enlargement of the extraocular muscles of the right eye, felt to be consistent with an orbital inflammatory pseudotumor. The patient was treated with intravenous steroids initially, then placed on oral prednisone. After minimal improvement on the steroids, a selective external carotid angiogram showed a moderate-sized dural cavernous sinus fistula. The patient underwent selective embolization of the fistula with rapid resolution of periorbital edema and proptosis. Visual acuity was stabilized at 20/200 in the right eye. The differential diagnosis and pathogenesis of carotid cavernous sinus fistulas and the likely pathogenesis of the fistula in this case are discussed.     

Tuberculous myositis: an unusual presentation of extrapulmonary tuberculosis.

The prevalence of Mycobacterium tuberculosis infection in Taiwan has increased in recent decades. Extrapulmonary infection accounts for 40% of all tuberculosis cases. Here we report a seven-year-old girl with culture-proven tuberculous myositis manifested as progressive enlargement of chest wall mass. No congenital or acquired immune deficiency could be traced at presentation. After surgical excision and completion of 6-month anti-tuberculous therapy, no recurrence of mass or any sequela was found during 6 months of follow-up.     

Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures

We report here a unique case of a 55-year-old woman presenting with a clinical picture of Parkinson disease, severe back pain, splenomegaly, and pronounced dyspnea. Radiographic examination of the spine showed multiple vertebral fractures. Niemann-Pick disease type B was diagnosed by findings of lipid-loaded histiocytes and a strongly reduced sphingomyelinase enzyme activity. She was homozygous for the deletion of codon 608 (delR608), which encodes an arginine residue in the Acid Sphingomyelinase gene. To investigate the cause of the unusual vertebral fractures, we screened for polymorphisms previously described as possibly associated with increased risk for osteoporosis and fractures. Our patient was heterozygous for the polymorphisms of the vitamin D receptor gene, the estrogen receptor gene, and the collagen 1A1gene. Increased physical activity after Parkinson treatment, a genetic predisposition, together with worsening disease due to interfering medications could explain the dramatic presentation of this patient. She was treated with cholesterol lowering drugs such as statins to decrease sphingomyelin synthesis, avoidance of drugs that inhibit sphingomyelinase, and bisphosphonates. No new fractures have occurred, but the interstitial lung disease has progressed.     

Maxillary African histoplasmosis: unusual diagnostic problems of an unusual presentation

Among bone lesions of African histoplasmosis, those affecting the jaw are relatively rare and concern, with other facial involvements, particularly infants and adolescent patients with an usual uncompromised immunologic status. As clinical and radiologic features are not specific, the differential diagnosis to other mandibular diseases is difficult. We report on a case of African histoplasmosis that involved the right mandibula of a 17-year-old Congolese boy with a persistent and fungiform cutaneous ulceration. As mycologic tests had not been carried out initially, the disease was histologically diagnosed on the basis of the presence of numerous intra-cytoplasmic large yeasts in a granulomatous lesion containing giant cells. As it is impossible to confront the histologic diagnosis with mycologic tests in such a situation, the problems of the differential diagnosis to other deep fungus infections and to some yeast-like foreign body-granulomas encountered at the microscopical level underline the importance of culturing organisms from lesions to confirm the histologic diagnosis. It is worth considering this pathology at least for three reasons: it usually mimicks a malignant jaw tumor; it may constitute a migrant pathology; and prognosis is commonly favorable with amphotericin B treatment.     

Tuberculosis of sacroiliac joint: an unusual presentation

A 25-year-old man presented with low back pain and fever. After an initial delay, a diagnosis of tuberculosis of left sacroiliac joint was established by fine-needle aspiration of the joint. Awareness of extrapulmonary manifestations of tuberculosis and high index of suspicion will facilitate early diagnosis and treatment.     

Primary malignant melanoma of the gall bladder.

A case of primary malignant melanoma of the gall bladder is reported, in which a 29 year old man presented with acute cholecystitis which led to perforation of the gall bladder and biliary peritonitis. To help in the differentiation between primary and secondary malignant melanoma in the gall bladder and to overcome some of the difficulties posed by the clinical identification of what is often a small or relatively inaccessible primary tumour, it is suggested that certain criteria should be fulfilled before primary melanoma is diagnosed. (i) Tumours must be solitary and arise from the mucosal surface of the gall bladder; (ii) they must either be papillary or polypoid; (iii) they must either display junctional activity or have any other primary sites excluded by history taking, examination, and investigation. If these criteria are applied to the published case reports of primary malignant melanoma, only six cases, including the present one, can be regarded as true primary tumours.     

Sequential malt lymphomas of the stomach, small intestine, and gall bladder.

Low grade lymphomas of mucosa associated lymphoid tissue (MALT) are indolent neoplasms that, although tending to remain localised for many years, may spread to other mucosal sites. A 53 year old woman treated by total gastrectomy for low grade MALT lymphoma of the stomach developed a recurrence in the small bowel 18 years later, and a further recurrence involving the gall bladder after three years in complete clinical remission after chemotherapy. In situ hybridisation showed that the small intestine and gall bladder recurrences had the same pattern of light chain restriction. Tumour from all three sites was shown to be derived from a single clone by the demonstration of an identical immunoglobulin heavy chain gene rearrangement by the polymerase chain reaction. The case illustrates the propensity of MALT lymphomas to "home" to mucosal sites and gives an insight into their behavior over an extended follow up.     

Diagnostic distinction between unusual malignant tumors of gall bladder by histochemistry and antigenic phenotype

In a review of 79 cases of gall bladder malignancy, nineteen cases were labelled as unusual tumors while sixty were diagnosed as adenocarcinoma. Alcian blue, PAS, Grimelius' and Masson trichrome stains were done. Expression of EMA, CEA and desmin was assessed (PAP). Histological subtype was revised, in eleven cases out of 19. Five tumors initially diagnosed as squamous cell carcinoma were found to be positive for mucin and CEA and hence were reclassified as adenosquamous carcinoma. Three undifferentiated carcinomas and two malignant carcinoids were labelled as adenocarcinoma and composite tumor respectively. Positive reactivity with CEA and alcian blue PAS and absence of AFP helped in differentiating one giant cell carcinoma from hepatocellular carcinoma. No definite marker could be identified in one case of malignant mesenchymal tumor. Histochemistry and immunohistochemistry also helped in confirming the diagnosis of three cases of carcinoma in situ, one of malignant carcinoid and three of clear cell carcinoma.     

Adnexal mass: an unusual presentation of small-bowel adenocarcinoma

Malignancy of the small bowel presents unique diagnostic and therapeutic challenges resulting in a delayed diagnosis in many cases. Small-bowel tumors respond poorly to most forms of treatment. Metastatic lesions to the ovaries comprise a small percentage of all ovarian malignant neoplasms. Ovarian metastases from primary small-bowel tumors are often difficult to differentiate from primary ovarian tumors. Only few reports have described ovarian metastases from small-bowel sources. A high index of suspicion can lead to an earlier diagnosis and can have an impact on the therapeutic options as well as the survival of the patients. The current report also underscores the importance of careful review of symptoms, investigative studies and pathology.     

Chest wall abscess: an unusual presentation of Hodgkin's lymphoma

A chest wall abscess is a very rare presentation of extranodal Hodgkin's lymphoma (HL); only one case has been reported to date. Here, we describe a case of a 38-yr-old man with HL whose initial presentation was a chest wall abscess. The diagnosis of HL was suggested by cytological examination of the purulent discharge and was confirmed subsequently by excisional biopsy of cervical lymph node.     

Cystic prostatic ductal adenocarcinoma: an unusual presentation and cytological diagnosis

Prostatic ductal adenocarcinoma (PDA) is an uncommon histological variant of prostatic adenocarcinoma that may present clinically as a cystic mass [1-3]. We report a case of cystic PDA presenting as a cystic perirectal mass in a 61 year old male. Fine needle aspiration cytology showed malignant cells with round-oval to focally elongated nuclei, conspicuous nucleoli, and amphophilic cytoplasm with focal acinar formation. Tumor cells were positive for prostate-specific antigen; however, the cytology was non-specific for site of origin. The radical cystoprostatectomy specimen revealed the true site of origin and showed a cystic PDA adjacent to conventional prostatic acinar adenocarcinoma. Our objective is to describe the common cytological features of PDA and to analyze the differential diagnoses associated with cystic masses of the prostate.