Dermatofibrosarcoma protuberans recurring as a hybrid dermatofibrosarcoma/giant cell fibroblastoma in an adult: a case report.

We report the case of a 44-year-old man who presented with a new area of nodularity within his scar five years after excision of a dermatofibrosarcoma protuberans (DFSP). A wide local excision was performed for suspected DFSP recurrence. Histology revealed recurrent tumour showing combined histological features of DFSP and giant cell fibroblastoma (GCF). We present this case to highlight the potential diagnostic pitfall of DFSP recurring as giant cell fibroblastoma and as further evidence that DFSP and GCF are manifestations of the same disease spectrum.

Poromas and porokeratosis in a patient treated for solid-organ and haematological malignancies.

We describe a patient with previous solid-organ (testicular, oesophageal) and haematological (acute myeloid leukaemia) malignancies, in whom chronic cutaneous graft-versus-host disease was complicated by poromas and porokeratosis. Chemotherapy, total body irradiation, longstanding immunosuppression and ultraviolet radiation may all have played a part in the pathogenesis of the skin tumours.

The period prevalence of oral lichen planus in a cohort of patients with vulvar lichen sclerosus.

BACKGROUND: Lichen sclerosus and lichen planus are chronic inflammatory mucocutaneous disorders that may coexist. OBJECTIVE: The aim of this study was to estimate the period prevalence of oral lichen planus in a cohort of patients with vulvar lichen sclerosus and to document their clinical characteristics. METHODS: We report a series of cases of vulvar lichen sclerosus presenting to two dermatologist-led vulvar clinics in Oxfordshire, England between 1997 and 2007 with coexistent clinical signs of oral lichen planus. RESULTS: Thirteen cases with coexistent vulvar lichen sclerosus and oral lichen planus were identified, of which five had oral biopsies. Four oral biopsies showed histological features consistent with lichen planus. One oral biopsy was not diagnostic but compatible with oral lichen planus. No cases of oral lichen sclerosus were identified. The period prevalence of oral lichen planus was 6 per 1000 cases of vulvar lichen sclerosus. CONCLUSION: The period prevalence of oral lichen planus in women with vulvar lichen sclerosus (0.6%) is similar to that reported for oral lichen planus in the general population (1-2%).

CD4 expression by mast cells in mastocytosis: a case report.

A 59-year-old man presented with a five-year history of an asymptomatic widespread truncal rash. Cutaneous biopsies showed mastocytosis, which was shown to be CD4-positive immunohistochemically. This potential diagnostic pitfall in the discrimination of mastocytosis from a variety of other haematopoietic neoplasms, particularly mycosis fungoides, is discussed.

Malignant peripheral nerve sheath tumours of the infraorbital nerve: case report and literature review.

OBJECTIVE: We report a case of malignant peripheral nerve sheath tumour seen in our department. METHOD: We present case reports and a review of the world literature concerning malignant peripheral nerve sheath tumour. RESULTS: A 38-year-old Caucasian woman was diagnosed with malignant peripheral nerve sheath tumour of the infraorbital nerve. She underwent a wide enbloc resection followed by a course of radiotherapy. A five-year post-operative magnetic resonance imaging scan revealed no evidence of recurrence. CONCLUSION: Malignant peripheral nerve sheath tumours are rare in the head and neck. An awareness of their occurrence is important for early diagnosis. Management involves: accurate histological diagnosis; radiological imaging to define tumour extent and plan resection; wide surgical excision with histologically negative margins; reconstruction of the tissue defect; and post-operative radiotherapy.

Intratumoural lymphatics in benign and malignant soft tissue tumours.

Soft tissue sarcomas do not generally metastasise via lymphatics, and the presence or absence of lymphatic vessels within sarcomas and benign soft tissue tumours is not known. In this study, we determined whether lymphatic vessels were present in a wide range of benign and malignant soft tissue lesions by examining intratumoural expression of the lymphatic endothelial cell markers, Lyve-1 and podoplanin. Intratumoural Lyve-1+/podoplanin+ lymphatics were not identified in sarcomas apart from all cases of epithelioid sarcoma (a tumour which is known to metastasise to lymph nodes) and a few cases of leiomyosarcoma, rhabdomyosarcoma and synovial sarcoma. Intratumoural lymphatics were also absent in most benign soft tissue tumours. Reparative and inflammatory soft tissue lesions contained lymphatics, as did all (pseudosarcomatous) proliferative myofibroblastic lesions including nodular, proliferative and ischaemic fasciitis, elastofibroma, nuchal fibroma and deep fibromatosis. Our results show that most soft tissue sarcomas do not contain intratumoural lymphatics, a finding which is consistent with the infrequent finding of sarcoma metastasis to lymph nodes. In contrast to fibrosarcoma and a number of other malignant spindle cell tumours, proliferative fibroblastic/myofibroblastic lesions of soft tissue contain intralesional lymphatic vessels.

Melanomas in renal transplant recipients.

BACKGROUND: It is well documented that renal transplant recipients are at increased risk of developing skin cancers, in particular squamous cell carcinomas. Less extensively reviewed in the literature is the increased incidence of malignant melanoma. We have reviewed 10 patients in the Oxford renal transplant population who developed 12 melanomas following transplantation. OBJECTIVES: To determine the incidence and characteristics of melanoma in renal transplant recipients. METHODS: We reviewed the case notes and pathology of all patients who developed melanoma within the Oxford Renal Transplant Unit. The clinical details were recorded including date of transplant, immunosuppressive therapy, interval between transplant and melanoma, site of occurrence, history of sun exposure, type of clinician diagnosing the melanoma, history of other skin malignancies and outcome. From the histopathology we documented various prognostic factors. RESULTS: Ten patients developed 12 melanomas (one patient had three melanomas) from a population of 1874 transplanted patients. The total number of transplant years was 11 942.2. The incidence of melanoma in our population was 12 per 11 942.2 transplant years, which is approximately 8 times greater than the standardized rate for this region. We found that the mean interval between transplant and melanoma was approximately 11 years (median 8.5). A dermatologist was the diagnosing clinician in at least 67% of cases. Melanomas occurred on the trunk in the majority of cases (58%), followed by the upper limb (25%). All patients apart from one are alive with no recurrence of their melanoma. One patient died as a result of metastatic melanoma. The mean follow-up period following melanoma was 3.7 years. In all patients apart from the patient who died, the melanomas were < 1 mm Breslow thickness. That patient's melanoma was 4.5 mm thick. There was no precursor naevus in eight of the 12 melanomas. In two there was a precursor dysplastic naevus. In the cases in vertical growth phase the tumour-infiltrating lymphocyte response was absent in four cases and nonbrisk in one patient. CONCLUSIONS: In the Oxford transplant population studied melanomas occurred at approximately 8 times the rate in the general population. This is the highest rate reported in the literature. The patients had a better outcome than reported previously. This may be due to detection at a relatively early stage. Renal transplant recipients attend dedicated dermatology clinics in Oxford, which may have contributed to the early diagnosis and good outcome.

p53-specific CD8+ T-cell responses in individuals with cutaneous squamous cell carcinoma.

BACKGROUND: Systemic immunosuppression is a significant risk factor for cutaneous squamous cell carcinoma (SCC). p53 is mutated and overexpressed in up to 90% of cutaneous SCC lesions. Despite considerable evidence that the immune response is important in the control of cutaneous SCC, there are no studies documenting potential tumour-associated antigens. OBJECTIVES: We tested the hypothesis that individuals with cutaneous SCC have functional circulating CD8+ T cells specific for p53. METHODS: Interferon-gamma immunosorbent assays were used to screen peripheral blood mononuclear cells for reactivity to six p53-derived HLA-A*0201-restricted epitopes from HLA-A*0201-positive patients and controls. RESULTS: We observed significantly elevated frequencies of p53-specific CD8+ T cells in seven of 26 individuals with cutaneous SCC and in one of 10 controls. The degree of lymphocytic infiltrate significantly correlated with the frequency of CD8+ T cells specific for p53 epitopes, but not with control epitopes. CONCLUSIONS: Overall, these data suggest that p53 may represent a target for CD8+ T cells in a proportion of individuals with cutaneous SCC.

Late recurrence of dermatofibrosarcoma protuberans in the female breast: a case report.

The case presented is of a 39-year-old female who, at the age of 13 years, had had a "dermatofibroma" excised from her left breast. Twenty-six years later she developed an unsightly "stretched scar". Excision biopsy demonstrated a dermatofibrosarcoma protuberans (DFSP). This was managed by wide local excision, preservation of the nipple-areolar complex, and immediate reconstruction with a pedicled latissimus dorsi flap. Review of the original histology confirmed the presence of DFSP, revising the original diagnosis. Most DFSPs recur within 3 years of primary excision. Such prolonged latency prior to recurrence has not been previously described. This reinforces the need to educate patients regarding the importance of long-term scar surveillance following skin tumour excision.

Multiple scrotal epidermolytic acanthomas; secondary to trauma?

Epidermolytic hyperkeratosis (EH) is an abnormality of epidermal maturation, most commonly due to mutations in keratins 1 and 10, which may be a congenital or an acquired defect. The term epidermolytic acanthoma was applied to a solitary discrete epidermal proliferation characterized by EH. Subsequently there have been several reports of disseminated epidermolytic acanthomas. We report a rare case of multiple epidermolytic acanthomas localized to the scrotum. With the aetiology of epidermolytic acanthoma unknown, trauma has been postulated as a possible cause. Our patient repetitively scratched his scrotum for 5 years and we believe that this action triggered his multiple scrotal epidermolytic acanthomas.

Subungual melanoma with osteocartilaginous differentiation.

Osteocartilaginous metaplasia is known to occur rarely in melanomas, particularly in subungual melanomas. We present a case of a calcified subungual soft tissue tumour in which biopsy of the lesion showed malignant round and spindle-shaped tumour cells, many of which were associated with the formation of cartilage and osteoid-like material. Subsequent resection showed clear histological evidence of a subungual melanoma. Tumour cells expressed S100, melan-A and neurone-specific enolase but were negative for HMB45. Diagnostic radiological and histological features and the nature of the osteocartilaginous differentiation within this lesion is discussed.

Follicular lymphoma with marginal zone differentiation: cytogenetic findings in support of a high-risk variant of follicular lymphoma.

AIMS: The pathogenesis and clinical significance of marginal zone differentiation in follicular lymphoma remains to be determined, although genetic alterations are likely to be important determinants of both. We therefore report the cytogenetic findings in three cases of follicular lymphoma with marginal zone differentiation studied by routine karyotyping and in-situ hybridization. METHODS AND RESULTS: The morphology and immunophenotype of each case was typical of follicular lymphoma displaying marginal zone differentiation. Karyotyping, performed on GTL-banded preparations of cell cultures derived from fresh lymph node tissue, revealed a complex karyotype in all three cases, including t(14;18)(q32;q21) and abnormalities associated with progression and/or transformation of follicular lymphoma. In addition, trisomy 3 was found in one case and translocations between the q27-29 region of chromosome 3 and chromosome 2 in the other two cases; the latter was identified only in subclones derived from less complex stem lines possessing t(14;18). In-situ hybridization, performed on sections cut from routinely processed paraffin-embedded tissue blocks, localized cells possessing these abnormalities of chromosome 3 to both the follicular and marginal zone components of two lymphomas studied in this way. CONCLUSIONS: Trisomy 3 and alterations involving the q27-29 region of chromosome 3 are implicated in the pathogenesis of de novo marginal zone lymphoma. Their presence in the current cases indicates that they may also be responsible for marginal zone differentiation in follicular lymphoma when cells harbouring these genetic alterations are exposed to the appropriate microenvironment. Our findings are consistent with follicular lymphoma with marginal zone differentiation as a high-risk variant of follicular lymphoma.

Expression of sarco/endo-plasmic reticulum Ca2+-ATPase type 2 isoforms (SERCA2) in normal human skin and mucosa, and Darier's disease skin.

BACKGROUND: The recent report that mutations in ATP2A2, which encodes the Ca2+ transporting sarco/endo-plasmic reticulum pump type 2 isoforms (SERCA2), cause Darier's disease (DD) suggests that SERCA2 plays an important role in epidermal cell adhesion and differentiation. However, no data exist regarding SERCA2 expression in normal human skin, mucosa and DD. OBJECTIVES: We have therefore investigated SERCA2 expression in normal human skin (40 samples), oral and vaginal mucosa (13 samples) and DD lesional skin (six samples). MATERIALS AND METHODS: These investigations were performed with a mouse monoclonal antibody specific for human SERCA2, using a standard ABC immunoperoxidase technique. RESULTS: SERCA2 was expressed in all specimens. SERCA2 expression was pronounced in the subnuclear aspect of basal epidermal keratinocytes, with variable suprabasal expression. SERCA2 expression was also observed in the infundibulum and outer root sheath of hair follicles; germinative and mature cells of sebaceous glands; secretory coil and duct of eccrine glands; apocrine gland cells, and arrector pili muscle. Fibroblasts and blood vessels (endothelium and muscle) expressed SERCA2, whereas nerves did not. SERCA2 expression was observed throughout oral and vaginal mucosa. In DD skin, strong SERCA2 positivity was detected in the basal, suprabasal and acantholytic lesional cells. Perilesional DD skin was comparable to normal skin. CONCLUSIONS: These findings support the hypothesis that SERCA2 is an important player in cutaneous biology, and provide baseline data that will facilitate the design and interpretation of functional studies of cutaneous SERCA2.

Keratosis pilaris atrophicans in mother and daughter.

We report two cases of keratosis follicularis spinulosa decalvans in a Caucasian family involving a 28-year-old woman and her mother. This is an unusual family in that no male relatives are similarly affected. Secondly, both patients have no significant eye changes but quite extensive scarring alopecia. To the best of our knowledge this is the second reported family in the UK.

Extraneural perineurioma of the face: an unusual cutaneous presentation of an uncommon tumour.

Perineurioma is an uncommon, benign tumour of the peripheral nerve sheath that has two major clinicopathological forms -- intraneural and extraneural. We present a case of extraneural perineurioma that occurred at an unusual site -- the facial skin of a 70-year-old woman -- which illustrates the wide, and potentially misleading, clinicopathological spectrum of this poorly recognized tumour.