Accuracy of clinical diagnosis of skin lesions.

BACKGROUND: Skin cancer is an increasing problem in fair-skinned populations worldwide. It is important that doctors are able to diagnose skin lesions accurately. OBJECTIVES: To compare the clinical with the histological diagnosis of excised skin lesions from a set of epidemiological data. We analysed diagnostic accuracy stratified by histological subtype and body site and examined the histological nature of misclassified diagnosis. METHODS: All excised and histologically confirmed skin cancers in Townsville/Thuringowa, Australia from December 1996 to October 1999 were recorded. Positive predictive values (PPVs) and sensitivities were calculated for the clinical diagnoses and stratified by histological subtype and body site. RESULTS: Skin excisions in 8694 patients were examined. PPVs for the clinical diagnoses were: basal cell carcinoma (BCC) 72.7%; squamous cell carcinoma (SCC) 49.4%; cutaneous melanoma (CM) 33.3%. Sensitivities for the clinical diagnosis were: BCC 63.9%; SCC 41.1%; CM 33.8%. For BCC, PPVs and sensitivities were higher for the trunk, the shoulders and the face and lower for the extremities. The reverse pattern was seen for SCCs. CONCLUSIONS: Diagnostic accuracy was highest for BCC, the most prevalent lesion. Most excisions were correctly diagnosed or resulted in the removal of malignant lesions. With nonmelanocytic lesions, doctors tended to misclassify benign lesions as malignant, but were less likely to do the reverse. Although a small number of clinically diagnosed common naevi subsequently proved to be melanoma (6.3%), a higher proportion of all melanomas had been classified as common naevi (20.9%). Accuracy of diagnosis was dependent on body site.

Keratoacanthoma with perineural invasion: a report of 40 cases.

Keratoacanthoma is a unique clinicopathological entity, despite a recent trend to regard it as a variant of squamous cell carcinoma. The occurrence of perineural invasion is an uncommon phenomenon in keratoacanthomas, with a predilection for lesions on the face. We studied a series of 40 cases of keratoacanthoma in which perineural invasion occurred. Of the 40 cases, 27 were from the head or neck region. We found no metastasis or direct death attributable to the presence of perineural invasion in the 35 cases in our series for whom follow-up data were available. In only one case did local recurrence occur and this was not considered by the authors to be directly attributable to the presence of perineural invasion. These findings add further support to the notion that keratoacanthoma is biologically different from squamous cell carcinoma.

Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3.

We report on a patient with a severe premature calvarial synostosis and epidermal hyperplasia. The phenotype was consistent with that of a mild presentation of Beare-Stevenson syndrome but molecular analysis of the IgIII-transmembrane linker region and the transmembrane domain of the gene encoding the FGFR2 receptor, revealed wild-type sequence only. Subsequently, molecular analysis of the FGFR3 receptor gene identified a heterozygous P250R missense mutation in both the proposita and her mildly affected father. This communication extends the clinical spectrum of the FGFR3 P250R mutation to encompass epidermal hyperplasia and documents the phenomenon of activated FGFR receptors stimulating common downstream developmental pathways, resulting in overlapping clinical outcomes.

Focal facial dermal dysplasia or aplasia cutis congenita: a case with a hair collar.

Aplasia cutis congenita describes localized defects of skin that may have many causes. A 6-month-old male presented with bilateral atrophic patches on his cheeks distributed along a line from the preauricular area to the angle of the mouth. They had been present since birth. He had no other abnormalities detectable on examination and no family history of similar lesions. A distinct collar of long pale hairs surrounded the lesions, especially the largest one. Histology showed changes consistent with aplasia cutis congenita or focal facial dermal dysplasia. We propose our patient's lesions may be the result of failure of ectodermal fusion over embryological closure lines. This may be a distinct subgroup of atrophic facial lesions.

Atypical presentation of herpes simplex (chronic hypertrophic herpes) in a patient with HIV infection.

A 46-year-old man with HIV infection and AIDS presented with a large perianal ulcerated vegetative lesion that developed over a 1-year period. He had a past history of recurrent genital herpes infection, treated successfully each time with acyclovir. The perianal lesion developed while he was taking prophylactic acyclovir. Clinically, there were features suspicious of a carcinoma and a biopsy was reported as showing dysplasia. Therefore, the lesion was resected in its entirety. Histologically, there were prominent pseudo-epitheliomatous hyperplasia and chronic ulceration associated with herpesvirus infection. There was no evidence of dysplasia or malignancy. It is important to be aware of chronic vegetant herpesvirus infection, as clinical appearances are unusual and some methods of identification, such as smears or biopsy, may not be sufficient for diagnosis. Viral culture or PCR may need to be performed for a definite diagnosis to alleviate prolonged discomfort and avoid unnecessary radical surgery.

Erythema multiforme: a case with unusual histopathological features.

A 14-year-old boy presented with widespread cutaneous and mucosal lesions clinically consistent with erythema multiforme. He gave a history of previous episodes of a similar eruption. Histological examination of a representative lesion showed changes consistent with erythema multiforme. It also, however, contained large numbers of eosinophils, forming a dermal interstitial infiltrate and epidermal microabscesses. The full blood examination showed a persistent eosinophilia. The appearances initially confused two experienced dermatopathologists.

Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis.

We report the first direct molecular prenatal diagnosis, undertaken for the autosomal dominant form of dystrophic epidermolysis bullosa (DDEB). The proband had a moderately severe form of DDEB, with episodic blistering of skin and mucosal involvement. Diagnostic histopathological examination, using electron microscopy to evaluate skin from a fresh blister, demonstrated a zone of cleavage beneath the epidermal-dermal junction, thereby assigning the EB as dystrophic. DNA analysis of COL7A1, the gene encoding type VII collagen, identified a heterozygous transversion (G to A) in the triple helix domain (G2043R). For any subsequent pregnancy, the affected mother and the unaffected father of the proband requested prenatal prediction, which was thereafter carried out in DNA extracted from a chorionic villus sample obtained at 11 weeks of gestation. Restriction enzyme analysis of COL7A1 exons 73 and 74 amplified by PCR, demonstrated the presence of the G2043R mutation, and the pregnancy was subsequently terminated. Molecular analysis of DNA extracted from fetal tissues confirmed the prenatal prediction.

Nuchal fibroma associated with scleredema, diabetes mellitus and organic solvent exposure.

A case of scleredema diabeticorum of Buschke associated with nuchal fibroma and organic solvent exposure is reported. The patient presented with a neck mass causing discomfort and restriction of movement. Histological examination showed this to be a nuchal fibroma. Additionally, there was widespread induration of the skin of his trunk which was asymptomatic. A biopsy showed features of scleredema. This is the first reported association of these two conditions, both of which show increased and thickened collagen bundles without significant fibroblast proliferation. They differ by the occurrence of mucin in scleredema, although this is not always demonstrable, particularly in late lesions. The possibility that nuchal fibroma is an end stage, localized form of scleredema is canvassed. The patient's medical history included insulin-dependent diabetes mellitus with complications of retinal vessel thrombosis and peripheral neuropathy. The patient also had significant past exposure to a wide variety of chemicals, including organic solvents.

Benign hypergammaglobulinaemic purpura of Waldenström associated with lymphoid interstitial pneumonitis.

A 31-year-old female is described who developed benign hypergammaglobulinaemic purpura and lymphoid interstitial pneumonitis concomitantly. High titre anti-nuclear antibodies were also noted. Several years previously, the patient had developed myasthenia gravis and multiple sclerosis. The present case is an example of multiple medical disorders characterized by immune dysregulation and represents the first reported associated of hypergammaglobulinaemic purpura with lymphoid interstitial pneumonitis.

Actinic granuloma in association with giant cell arteritis: are both caused by sunlight?

Two cases of actinic granuloma of the skin occurring in association with a giant cell arteritis are reported. This is the first time that this association has been documented.

Cutaneous manifestations of chronic graft-versus-host disease.

Graft-versus-host disease (GVHD) occurs in a number of clinical settings. It is well recognized after bone marrow transplantation, an increasingly used therapeutic option for haematological disorders. Chronic GVHD, occurring at an interval greater than 100 days post-transplant, has many systemic manifestations, but it is the cutaneous manifestations which are most frequent and often most troubling to the patients. In this review article, the wide spectrum of cutaneous chronic GVHD (including involvement of hair, nails and mucosae), and its complications and associations are discussed. The clinical and histological features and management guidelines are presented to assist the dermatologist with diagnosis and treatment of this condition.

Skin cancer in a subtropical Australian population: incidence and lack of association with occupation. The Nambour Study Group.

Because it is not possible to monitor skin cancer accurately using routine methods, special surveys have been undertaken in Nambour, a typical subtropical community in Queensland, Australia. Estimates of incidence reported here are based on skin cancers medically treated between 1985 and 1992 and new cases diagnosed by dermatologists in two examination clinics in 1986 and 1992. Among men and women aged 18-69 years in 1986, age-adjusted incidence rates of basal cell carcinoma were 2,074 and 1,579 per 100,000 per year, respectively-the highest incidence rates of a specific cancer ever reported. Squamous cell carcinoma occurred at half the rate of basal cell carcinoma among men and at about one third the rate among women. Although as expected, fair skin, a history of repeated sunburns, and nonmalignant solar skin damage diagnosed by dermatologists were strongly associated with both types of skin cancer, outdoor occupation was not. Significant self-selection was observed among outdoor workers, whereby people with fair or medium complexions and a tendency to sunburn were systematically underrepresented among those in long-term outdoor occupations although they accounted for more than 80 percent of the community study sample. The mitigating effect of this selection bias may partly explain the paradox of the lack of quantitative evidence of a causal link between sun exposure and skin cancer in humans.

Histological correlates of metastasis in primary invasive squamous cell carcinoma of the lip.

The histological features of 66 cases of squamous cell carcinoma of the lip were studied in an attempt to define prognostic parameters. Features that correlated with an increased risk of metastasis included histological grade of the tumour at the base and the surface, the tumour thickness, presence of stromal sclerosis, and the presence of muscle and perineural invasion.

Acquired ichthyosis in bone marrow transplant recipients.

BACKGROUND: Acquired ichthyosis (AI) has been described in a variety of clinical situations. We have observed cases of ichthyosis in bone marrow transplant recipients. OBJECTIVE: Our purpose was to characterize these changes clinically and histologically and to compare them with other cases of acquired ichthyosis. METHODS: Skin biopsy specimens were taken before transplantation and from affected areas after transplantation. RESULTS: AI was observed in four patients who had received a bone marrow transplant for leukemia. None of the patients had a previous personal or family history of ichthyosis. In all patients graft-versus-host disease developed after transplantation. The eruption clinically and histologically most closely resembled ichthyosis vulgaris. The ichthyotic changes appeared to be unrelated to specific drug therapy. CONCLUSION: AI is a previously unreported cutaneous complication of bone marrow transplantation. It may be related to graft-versus-host disease in these patients.

Pustular vasculitis of the hands.

BACKGROUND: Several patients were observed with a peculiar cutaneous eruption limited to the dorsa of the hands and fingers. Clinically the lesions had some resemblance to those seen in Sweet's syndrome, but biopsy specimens showed severe leukocytoclastic vasculitis. OBJECTIVE: Our purpose was to characterize this eruption clinically and histologically and compare it with previously described diseases. METHODS: Six patients observed since 1977 are described. Skin biopsy specimens were obtained. RESULTS: In six women (age, 41 to 79 years) a symmetric eruption of papules and plaques limited to the dorsa of the radial sides of the hands and first three digits developed. The lesions resembled those of Sweet's syndrome and were associated with fever, sterile culture, blood neutrophil leukocytosis, nonresponse to antibiotic therapy, and rapid response to prednisone. Biopsy specimens showed a severe leukocytoclastic vasculitis. CONCLUSION: These patients appear to have a distinct entity that we have termed pustular vasculitis of the hands.

Pityriasis rosea-like eruption after bone marrow transplantation.

Bone marrow transplantation is associated with numerous cutaneous complications that may be related to the underlying (preexisting) disease, to pretransplant conditioning, to immunosuppression, to concomitant medication, or to graft-versus-host reaction. We describe four bone marrow transplant recipients with the clinical and histologic features of pityriasis rosea, a hitherto unreported association.

Regression in basal cell carcinoma: an immunohistochemical analysis.

Spontaneous regression of some cutaneous tumours is well recognized, and is thought to result from an immunological response to the tumour. Regression has previously been noted in basal cell carcinomas, but no studies defining the role of the immune response in the regression of this malignancy have been performed. We have examined 45 primary basal cell carcinomas (BCCs) (20 nodular, 25 superficial) and identified the cellular phenotypes and activation states of the cells infiltrating primary regressing and non-regressing BCCs, by immunocytochemistry. We have found a significantly increased number of CD3+ and CD4+ T cells infiltrating regressing compared with non-regressing tumours, and the expression of interleukin-2 receptor (an early activation marker for T cells) was also increased. There were no significant differences in class II major histocompatibility complex (MHC), CD1, or macrophage antigen expression in these groups. These findings suggest that activated CD4+ cytokine-secreting cells are important in the regression of BCCs.