Xp microdeletion syndrome characterized by pathognomonic linear skin defects on the head and neck.

We describe a new case of a rare syndrome characterized by ocular abnormalities and pathognomonic linear skin defects. This syndrome is the result of an unbalanced translocation resulting in a deletion of the distal end of the short arm of the X chromosome. We report the thirteenth case and review the clinical and cytogenetic aspects of this disorder. In addition we discuss new findings pertaining to the histopathology of the skin lesions.

Nerve sheath myxoma of the oral cavity: case report and review.

Nerve sheath myxoma is a benign peripheral nerve sheath tumor that rarely occurs in the oral cavity; approximately 12 cases have been reported to date. On histologic evaluation the lesions consist of closely aggregated fascicles that vary considerably in cellularity. Some of the lesions are predominantly myxoid with widely spaced, stellate-shaped cells. Other lesions consist of closely aggregated spindle cells in a matrix that appears fibrous yet stains strongly for acid mucopolysaccharides (extracellular mucin). Small numbers of mitotic figures may be observed. Because of their rarity and unusual histologic appearance, it is advisable that the pathologist be familiar with these lesions; they may be mistaken for other myxoid lesions of the oral mucosa. We describe a single case of nerve sheath myxoma that arose in the buccal mucosa in a woman.

Verrucous herpes virus infection in human immunodeficiency virus patients.

OBJECTIVE: Two cases of varicella-zoster virus infection that were clinically and pathologically verrucous are reported. Although this phenomenon has previously been described in the dermatology literature, it has not, to our knowledge, been described in the pathology literature. It is important that pathologists are aware of these uncommon but histologically distinctive lesions. DATA SOURCES: The patients were seen and treated at the Departments of Dermatology of the University of Texas Health Science Center at San Antonio and Brackenridge Hospital in Austin, Tex. All information was derived from the medical records and from the attending physicians. CONCLUSIONS: Verrucous lesions of herpes (varicella) zoster virus infection are rare, but they do occur in patients with the acquired immunodeficiency syndrome. Clinically, the lesions studied resembled ordinary papillomavirus-induced verrucae. Histologically, there was verrucoid epidermal hyperplasia and, unlike ordinary lesions of herpes (varicella) zoster, very little inflammation of the dermis. Diagnostic multinucleated keratinocytes with herpesvirus cytopathic changes were present within the stratum corneum.

Widespread cutaneous bacillary angiomatosis and a large fungating mass in an HIV-positive man.

Bacillary angiomatosis (BA), an infection caused by a gram-negative rod, can be a multiorgan disease. The usual causative organism, Bartonella (formerly Rochalimaea) hensalae, has only recently been identified. Bartonella quintana has also been shown to cause some cases of cutaneous BA. We describe a patient with widespread cutaneous BA with probable bone involvement and a large fungating mass.

Psoriasis: pathophysiology and oral manifestations.

Psoriasis is a chronic, remitting and relapsing inflammatory skin disorder with a strong genetic predisposition. Psoriasis affects 1-3% of the world's population in their early lives representing a disabling condition with significant social and economic impact. Despite a great deal of research on the etiology and tissue destruction mechanisms, the disease is not well understood. The purpose of this paper is to provide current information from the literature with a special focus on oral manifestations. The major signs and symptoms presented in the oral environment of a psoriasis patient may include geographic tongue, fissure tongue, gingival and/or mucosal lesions. Inflammatory temporomandibular joint lesions have been reported in less than 5% of psoriasis patients. Multiple treatment strategies, be they topical or systemic, have been applied to these patients for symptom relief but not for cure.

Myxoid liposarcoma with cartilaginous differentiation.

Common histologic variants of liposarcoma are readily recognized. Histologic classification might be difficult, however, when liposarcoma demonstrates cartilaginous differentiation. Although this phenomenon has previously been noted, it has not, to our knowledge, been reported as a specific pathologic entity. All three patients in the present study were men, ages 37, 42, and 63 years. Each presented with a solitary, enlarging mass of the thigh that was surgically excised. The tumors ranged in size from 8 to 13 cm. Microscopically, each lesion displayed characteristic features of myxoid liposarcoma; in addition, all possessed discrete, rounded foci of mature-appearing hyaline cartilage. One case displayed small foci showing chondrocyte atypia. No other patterns of mesenchymal differentiation were present. All patients received postoperative radiation therapy. No recurrences or metastases have been identified (mean duration, 39 mo). Myxoid liposarcomas with cartilaginous differentiation are of importance because they might be misdiagnosed as malignant mesenchymoma. The latter, if not qualified as to histologic grade, might be presumed to be a biologically more aggressive lesion. In addition, these lesions must be distinguished from two benign processes: chondroid lipoma and extraskeletal chondroma with lipoblast-like cells. Additional studies of this uncommon variant of liposarcoma will be necessary to document further its status as a low-grade sarcoma.

Epstein-Barr virus infection is an early event in gastric carcinogenesis and is independent of bcl-2 expression and p53 accumulation.

Ninety-five cases of adenocarcinoma of the stomach were evaluated for the presence of Epstein-Barr virus (EBV) using a sensitive in situ hybridization assay targeting Epstein-Barr virus-encoded RNA 1 (EBER1) transcripts. EBER1 was detected in 11 of 95 (12%) of cases. When present, the virus was localized to malignant epithelial cells and to dysplastic gastric epithelium, but was not seen in normal-appearing gastric epithelium or intestinal metaplasia. The EBV DNA was monoclonal in all three cases tested by Southern blot analysis of the EBV terminal repeat fragment. These findings suggest that the virus was present before malignant transformation. The presence of EBV was strongly associated with increased numbers of tumor-infiltrating T lymphocytes; however, EBV was not associated with prolonged survival. Neither p53 nor bcl-2 were consistently detected in the EBV-associated tumors. Specifically, 6 of 11 EBV-positive carcinomas had accumulation of p53 protein by immunohistochemical analysis, which was similar to the prevalence of p53 accumulation in EBV-negative specimens and suggests that EBV infection does not substitute for p53 mutations during tumorigenesis. The bcl-2 oncoprotein was expressed in a third of the carcinoma specimens tested, but bcl-2 expression did not correlate with the presence of EBV or with expression of EBV latent membrane protein 1. In conclusion, EBV infection appears to precede malignant transformation in a significant fraction of gastric carcinomas, but neither bcl-2 expression nor p53 accumulation appear to be consistently associated with the presence of the virus.

Epithelioid glomus tumor.

Reported are five cases of an unusual histological variant of glomus tumor that we have designated epithelioid glomus tumor. Unlike conventional glomus tumors, which consist of small polygonal cells with dark round nuclei and scanty cytoplasm, the epithelioid lesions were composed of large polygonal to spindle-shaped cells with abundant eosinophilic cytoplasm and large, irregularly shaped nuclei: The cells had both epithelioid and myoid qualities. Two of the cases studied were predominantly epithelioid, with small remnants of conventional glomus tumor at the periphery. The three other lesions were purely epithelioid. Epithelioid glomus tumors are of particular importance because they may be mistaken for other lesions histologically. Both benign and malignant epithelial lesions may be considered in the differential diagnosis; spindle-cell lesions, such as schwannoma, leiomyoma, hemangiopericytoma, and others, are in the histological differential diagnosis. Immunohistochemical and ultrastructural studies indicated that epithelioid glomus tumors had characteristics identical to those of conventional glomus tumors: the cells showed features consistent with smooth muscle derivation. The epithelioid areas frequently exhibited cytological atypicality--features that we believe to be a manifestation of cellular degeneration or senescence (analogous to "ancient" change in schwannomas or symplastic change in leiomyomas) rather than evidence of neoplastic progression. Simple surgical excision seems to have been curative (mean duration of follow-up of 4 years in the three cases in which such information was available). To our knowledge, no similar cases have previously been reported.

Allelic imbalance in gastric cancer: an affected site on chromosome arm 3p.

In order to detect regions of DNA containing tumor suppressor genes involved in the development of gastric cancer, we performed an allelotype study on 78 gastric adenocarcinomas from a population composed largely of Texan Hispanics and Anglos, two ethnic groups that have a ratio of incidence rates of gastric cancer of approximately 2:1. In total, 42 microsatellite markers were employed, which detected at least one site per arm of each autosome in the human genome. These included several markers linked to known tumor suppressor genes (TP53, APC, DCC, RB1, and BRCA1). Sites showing quantitative allelic imbalance (AI) greater than 30% were located on 3p (36%), 11q (31%), 12q (38%), 13q (33%), 17p near TP53 (74%), and 17q near BRCAI (32%). Among the 22% of cases showing microsatellite instability (MI), a subset (4 of 17) showed instability at 59% or more of sites tested. No ethnic bias was detected in cases showing MI or in cases with AI at sites with rates of AI above 30%. Tumors of the intestinal subtype were significantly more likely than diffuse tumors to show AI at DI3S170 (P = 0.01). A deletion map of chromosome arm 3p was prepared for tumors with AI at D3S1478. These data indicate that a tumor suppressor gene on chromosome arm 3p is involved in the development of a subset of gastric cancers.

Cutaneous involvement in chronic myelomonocytic leukemia.

BACKGROUND: Chronic myelomonocytic leukemia has been associated with various nonspecific cutaneous manifestations. Rarely has the leukemia been reported to directly affect the skin. METHODS: This case documents the progression of a patient who ultimately developed chronic myelomonocytic leukemia, by clinical examination, hematologic parameters, dermatopathology, and bone marrow pathology. RESULTS: The skin showed nonspecific cutaneous involvement, progressing to specific leukemic lesions parallel with increasing systemic and hematologic involvement. CONCLUSIONS: Chronic myelomonocytic leukemia can manifest with lesions of leukemia cutis. The possibility of nonspecific cutaneous involvement in the preleukemic phase exists.

Multiple lymphomatous polyposis of the gut. A case with unusually widespread distribution.

Multiple lymphomatous polyposis (MLP) is a term used to describe malignant lymphomas of the gastrointestinal tract that manifest as polyposis. The cell population of MLP is identical to that in "mantle cell lymphoma." In most instances, relatively small segments of small and large intestine are affected. We report a case of MLP in which involvement was unusually widespread. A 56-year-old man, with abdominal pain and weight loss, proved to have a large mass at the ileocecal valve as well as multiple polyps of the stomach and small and large intestine. MLP is distinctive both grossly and microscopically. Clinically, it may be confused with epithelial polyps, and histologically it must be distinguished from benign lymphoid proliferations as well as other types of lymphoma. The latter distinction is important because of the relatively poor prognosis (median survival of < 3 years).

Giant cell tumor of the larynx. Case report and review of the literature.

Giant cell tumor of bone is rare in the osteocartilaginous tissues of the larynx. We describe a 23-year-old man with a 6-month history of progressive hoarseness and an enlarging neck mass. Computed tomography demonstrated a 4-cm mass with central cystic change arising in the right ala of the thyroid cartilage. A hemilaryngectomy was performed. Grossly, the lesion was expansile and circumscribed, but unencapsulated. On microscopic examination, numerous multinucleated giant cells were evenly dispersed within a cellular and vascular stroma. The findings were characteristic of giant cell tumor of bone. The patient has been disease free for 56 months. A review of the international literature yielded 11 cases. No lesion is known to have recurred after surgical excision, irradiation, or both. We present a clinicopathologic analysis of giant cell tumors involving the larynx and conclude that giant cell tumors are associated with a favorable clinical outcome.

Gastrointestinal tattoos.

Tattooing of the gastrointestinal tract is used to facilitate the relocation of biopsy sites or other sites of interest at the time of subsequent biopsy or surgery. Submucosal injection of sterile india ink produces a zone of blue-black coloration that is grossly visible from both the mucosal and serosal surfaces. The pathology of gastrointestinal tattoos has only been briefly mentioned previously in the medical literature. We report two cases of gastrointestinal tattooing: one that was done to mark the margin of resection in a patient with gastric lymphoma, and the second that occurred unintentionally following the administration of activated charcoal for drug overdosage in a patient with undiagnosed active inflammatory bowel disease. Unintentional tattooing of the gastrointestinal tract has, therefore, not been reported.

Papulonecrotic tuberculid secondary to disseminated Mycobacterium avium complex.

BACKGROUND: Papulonecrotic tuberculid is a rarely reported cutaneous reaction to the mycobacterium bacillus. It is most often encountered in association with tuberculosis. The clinical and histologic picture of the entity is a distinctive one, but the etiology of the disease process is uncertain. Therapy directed against the causative organism is dramatically successful. METHODS: A 35-year-old white man with AIDS was referred to the Dermatology clinic for evaluation of a widespread skin eruption. The skin lesions were biopsied for histopathology and culture. From the cutaneous cultures Mycobacterium avium complex (MAC) organisms were grown. RESULTS: We report the first case of papulonecrotic tuberculid manifestation in an AIDS patient with disseminated MAC. Unusual features seen in this case include the predominance of pruritic eschars rather than asymptomatic papules and the confirmation by special stains of mycobacterium organisms within the skin biopsy. Papulonecrotic tuberculid has not been previously associated with either MAC or AIDS. CONCLUSIONS: Papulonecrotic tuberculid should be a diagnostic consideration in immunocompromised patients with MAC whose clinical and histologic features are compatible with this rare entity.

p53 mutations in gastric and colorectal cancers in Texas Hispanics versus Anglos.

Gastric cancer is more than twice as common in Hispanics as in Anglos in Texas, while colorectal cancer is almost twice as common in Anglos as Hispanics. To test the hypothesis that mutations in the p53 tumour suppressor gene are involved in these differences, we examined 131 gastric and 138 colorectal cancers from Hispanic and Anglo patients from South Texas and Mexico using immunohistochemistry (IHC) as a screening assay for p53 mutations. The fraction of p53 positive cases was not significantly different in gastric cancers from Hispanics compared to Anglos (43% versus 61%, respectively, p = 0.13) or in colorectal cancer (57% versus 58%, respectively, p = 1.0), suggesting that p53 mutations are not involved in causing the different incidences of these cancers in these populations. In addition, the types of p53 mutations arising in gastric tumours from Hispanic patients were consistent with those reported in gastric tumours in other populations. Sequencing of mutations in five gastric cancers revealed two G:C to A:T transitions, two A:T to G:C transitions and one complex deletion. In contrast with findings in studies in other tumour types, neither stage nor survival was associated with p53 positive staining by IHC in either gastric or colorectal tumours in this study. Positive p53 immunostaining was associated with the diffuse histological subtype in gastric carcinoma (p = 0.05) and high histological grade in colorectal carcinoma (p = 0.04).

Transient acantholytic dermatosis induced by recombinant human interleukin 4.

BACKGROUND: Interleukin 4 is one of many cytokines under investigation about its possible role in the pathogenesis and treatment of disease. Transient acantholytic dermatosis is of uncertain origin. It has not previously been linked to drug ingestion and is generally not believed to have an immunologic basis. OBJECTIVE: Our purpose was to describe the clinical characteristics and histologic features of a cutaneous eruption caused by interleukin 4. METHODS: Three patients in whom an eruption developed after they received intravenous recombinant human interleukin 4 were examined and biopsy specimens were evaluated. RESULTS: These patients had a pruritic papulovesicular eruption that was consistent, both clinically and histologically, with transient acantholytic dermatosis. None of the other conditions believed to precipitate transient acantholytic dermatosis was present in our patients. CONCLUSIONS: This is the first report of a cutaneous side effect of interleukin 4. This may be antibody-mediated or related to increased production of tissue-type plasminogen activator.

Compound (primordial) adnexal carcinoma arising in a systematized compound epithelial nevus.

A distinctive systematized epithelial nevus and associated multifocal carcinomas of the microcystic and sclerosing sweat duct type affected the lower extremities of a 9-year-old girl. The carcinomas were well differentiated and were both adenosyringomatous and microcystic. They qualify as microcystic and compound. In both the epithelial nevi and the carcinoma, primordial potentials are recapitulated.