A case of pachydermodactyly in a seventeen year old associated with repetitive minor trauma.

A boy presented initially to a Rheumatology clinic with a three year history of asymptomatic swelling of the third to fourth proximal interphalangeal (PIP) joints bilaterally. A presumptive diagnosis of seronegative arthritis was made. Sulfasalazine was commenced without improvement and resulted in mood disturbance. Blood tests including ESR, lupus anticoagulant, rheumatoid factor and CCP antibodies were unremarkable. Hand radiographs were normal. MRI showed oedema within soft tissues around PIP joints. His care was transferred to the Rheumatology unit in our hospital and the rheumatological diagnosis was revised; sulfasalazine was stopped and skin biopsy organised. Onward referral to Dermatology was made. Examination revealed symmetrical swelling and thickening of soft tissues on PIP joints with no evidence of joint synovitis. He denied habitual behaviour but was noted to rub his fingers subconsciously. With this as a cause of repetitive minor trauma, a clinical diagnosis of pachydermodactyly was made. Skin biopsy was supportive showing a dermis with coarse collagen. Pachydermodactyly is rare. This case highlights the importance of prompt recognition to avoid invasive and excessive diagnostic procedures as well as unnecessary immunosuppression.

Spontaneous resolution of keratoacanthoma centrifugum marginatum.

Keratoacantnoma centrifugum marginatum (KCM) is a rare variant of keratoacantnoma, with > 40 cases reported world wide. Spontaneous resolution of KCM is very rare. To our knowledge, this is the first case of KCM with spontaneous resolution as documented by serial photographs.

Enterobious vermicularis (pinworm) infestation of the vulva: report of 2 cases of a pseudoneoplastic lesion mimicking squamous carcinoma.

Enterobious Vermicularis (pinworm) infestation outside the gastrointestinal tract is rare. We report 2 patients with vulval involvement, one of whom presented with a clinically suspicious, rapidly growing mass. The histology of both lesions showed similar features of epidermal proliferation in the form of hyperkeratosis, acanthosis, and papillomatosis; this pseudoepitheliomatous hyperplasia raised the possibility of a well-differentiated squamous carcinoma. There was associated inflammation in both cases, including large numbers of eosinophils in 1 case. On the surface or within the keratin layer, structures with the morphology of enterobious vermicularis eggs were identified. In reporting this unusual pseudoneoplastic phenomenon, we stress the necessity for the pathologist to consider and look for parasites in proliferative squamous lesions of the vulva, especially when there is an associated inflammatory infiltrate rich in eosinophils.

Polypoid uterine lesions mimicking endometrial stromal sarcoma.

Two polypoid submucosal uterine lesions were examined histologically and immunohistochemically with monoclonal antibodies to desmin and alpha smooth muscle actin. One case comprised a leiomyoma and the other a polypoid form of adenomyosis. Both polyps had prolapsed through the external cervical os. The lesions had an ulcerated surface with focal areas of marked increased cellularity and pronounced vascularity throughout, such that they mimicked a low grade endometrial stromal sarcoma infiltrating the myometrium. The cellular areas showed diffuse positivity for desmin and alpha smooth muscle actin, confirming them to be of smooth muscle origin. The changes of marked hypercellularity and pronounced vascularity within polypoid submucosal uterine lesions have not been emphasised in published reports up to now. Pathologists should be aware of these morphological features in order to avoid misdiagnosis of such cases as endometrial stromal sarcomas. The changes described here are likely to be secondary to trauma associated with a polypoid lesion prolapsing through the external cervical os.

Massive abdominal and pelvic myxoma in Carney's syndrome.

This report describes a massive abdominal and pelvic myxoma in a patient with Carney's syndrome. A 38 year old woman presented with abdominal distension and a palpable mass, and at operation a large pelvic and abdominal tumour was identified and resected. The surgical specimen consisted of a lobulated mass, which on cut section had a uniform gelatinous consistency. The mass surrounded both ovaries, the appendix, and the upper part of the uterus, but macroscopically did not appear to involve these organs. Histological examination showed plump stellate and spindle shaped cells set in an abundant myxoid stroma, in keeping with a myxoma. Immunohistochemical staining revealed positivity of tumour cells for vimentin, but no reactivity to desmin, alpha-smooth muscle actin, S-100 protein, CD34, or AE1/AE3. This is the first documented case of massive adominal and pelvic myxoma in a patient with Carney's syndrome. Clinicians and pathologists should be aware that myxomas in Carney's syndrome can rarely involve unusual sites other than the skin and heart.

Interobserver variation in the reporting of cervical colposcopic biopsy specimens: comparison of grading systems.

AIMS: To assess interobserver variation in reporting cervical colposcopic biopsy specimens and to determine whether a modified Bethesda grading system results in better interobserver agreement than the traditional cervical intraepithelial neoplasia (CIN) grading system. METHODS: One hundred and twenty five consecutive cervical colposcopic biopsy specimens were assessed independently by six histopathologists. Specimens were classified using the traditional CIN grading system as normal, koilocytosis, CIN I, CIN II, or CIN III. The specimens were also classified using a modified Bethesda grading system as either normal, low grade squamous intraepithelial lesion (LSIL) or high grade squamous intraepithelial lesion (HSIL). Participants were also asked to categorise biopsy specimens by the CIN system with the addition of the recently proposed category "basal abnormalities of uncertain significance (BAUS)". The degree of agreement between participants was assessed by kappa statistics. RESULTS: Using the CIN system, interobserver agreement was generally poor: unweighted and weighted kappa values between individual pairs of observers ranging from 0.05 to 0.34 (average 0.20) and from 0.20 to 0.54 (average 0.36), respectively. With the modified Bethesda system, interobserver agreement was better but still poor: unweighted and weighted kappa values ranging from 0.15 to 0.58 (average 0.30) and from 0.21 to 0.61 (average 0.36), respectively. There was little or no agreement between observers in the diagnosis of BAUS. CONCLUSIONS: Interobserver agreement in the reporting of cervical colposcopic biopsy specimens using the CIN grading system is poor. Agreement, while still poor, is better when a modified Bethesda grading system is used. There is little or no consensus in the diagnosis of BAUS.

Microscopic polyangiitis. Delineation of a cutaneous-limited variant associated with antimyeloperoxidase autoantibody.

BACKGROUND: Microscopic polyangiitis is a systemic small vessel vasculitis, which, although primarily associated with necrotizing and crescentic glomerulonephritis and pulmonary capillaritis, often has cutaneous and musculoskeletal features. Microscopic polyangiitis is strongly associated with antineutrophil cytoplasmic autoantibodies, most often demonstrating a perinuclear immunostaining pattern. This pattern usually demonstrates specificity for antimyeloperoxidase autoantibodies. We report a case of microscopic polyangiitis, which, even after several years, has remained predominantly cutaneous. OBSERVATIONS: We describe a patient with a 22-year history of cutaneous purpuric vasculitis. The lesions occur in crops at 4- to 6-week intervals and are associated with constitutional upset and elevated serologic inflammatory indexes. The antimyeloperoxidase titers closely correlate with disease activity in this patient. After close, long-term review and extensive investigations, no evidence of necrotizing and crescentic glomerulonephritis, pulmonary capillaritis, or other deep-organ involvement has been detected. CONCLUSIONS: To our knowledge, this is the first report of a long-term evaluation of predominantly cutaneous microscopic polyangiitis and demonstrates that serologically characteristic microscopic polyangiitis may remain limited without subsequent progression to characteristic systemic involvement. This observation contributes to the understanding and characterization of the clinicopathologic spectrum of microscopic polyangiitis.

T-cell-rich histiocyte-rich B-cell lymphoma of parotid gland.

We describe a malignant lymphoma of the parotid gland arising in a patient with Sjögren's syndrome. Diagnosis was established on needle biopsy which showed a mixed population of lymphoid cells. Immunohistochemistry revealed B-lymphoid cells, T-lymphoid cells and histiocytes. Clonal immunoglobulin heavy chain gene rearrangement was demonstrated using the polymerase chain reaction. Within the confines of the small biopsy, the lesion qualifies for the designation T-cell-rich histiocyte-rich B-cell lymphoma. The value of molecular techniques in the diagnosis of malignant lymphoma on limited tissue samples is highlighted by this case.

Glandular differentiation in cardiac myxomata.

We present a case of cardiac myxoma associated with Carney's complex in which histological examination revealed numerous well formed glandular structures at the base of the lesion. Immunoperoxidase studies showed these glands to be epithelial-like with positive staining for EMA, CEA and CAM 5.2. Mucin stains were also positive. The presence of these gland-like structures within a cardiac myxoma, unless recognised as part of the tumour, may lead to the erroneous diagnosis of secondary adenocarcinoma. We reviewed eighteen further cardiac myxomata of which two were associated with Carney's complex. Of these eighteen tumours only one, not associated with Carney's complex, contained glandular structures and these were poorly formed.

Solitary cutaneous leiomyomata: a clinicopathological study of 28 cases.

Twenty-eight cases of solitary cutaneous leiomyomata were encountered in a ten-year period. They occurred in nine males and nineteen females, the mean age at presentation being 53 years. The lesions occurred most commonly on the lower limbs and 36% were painful. Solitary cutaneous leiomyomata were found to differ from the better known syndrome of multiple cutaneous leiomyomata, in that they did not recur after excision and were not associated with leiomyomata at other body sites.

Malignant melanoma over a fifty-year period: a histological evaluation.

The incidence of primary cutaneous malignant melanoma is increasing in the developed countries. Cutaneous malignant melanomas diagnosed in our Department over a period of fifty years from 1930 to 1980 were examined to see if there was any change in their histological features. In 1930 and 1955, over 90% of malignant melanomas presented as tumours infiltrating deep into the subepithelial tissue. By 1980, 55% of tumours presented with deeply infiltrating lesions and only 20% occurred at a stage where adequate local excision could provide hope of a cure. There is thus a need for greater awareness among the medical profession and the public if we hope to be able to treat malignant melanomas at an early stage.

Mutation analysis in Irish families with glomuvenous malformations.

BACKGROUND: Glomuvenous malformations (GVMs) are rare bluish lesions that can affect the skin and mucosal surfaces. They represent defects in vasculogenesis. Lesions can occur sporadically or in an autosomal dominant mode of inheritance. Recent studies have shown that mutations in the glomulin gene (GLMN) on chromosome 1p21-22 are responsible for familial GVMs. OBJECTIVES: To search for mutations in GLMN in Irish families with GVMs. METHODS: We identified four Irish families with GVMs and confirmed linkage to chromosome 1p21-22 in these cases. We sequenced the glomulin gene in all affected and unaffected members of the families. Results Linkage analysis showed that affected individuals from the families shared a common haplotype. Mutation analysis revealed a delAAGAA mutation in exon 3 of the glomulin gene in all four families with GVMs. CONCLUSIONS: We confirm that mutations in the glomulin gene are responsible for GVMs and suggest a founder Irish mutation in the glomulin gene in four Irish families.

Histological features of value in differentiating small congenital melanocytic naevi from acquired naevi.

One hundred and twelve melanocytic naevi measuring less than 5 cm in largest diameter were excised from 85 patients referred because of minor concern about possible growth or malignant potential of these naevi. Sections from all 112 naevi were examined histologically, without access to the clinical history, and the following features noted: type of melanocytic proliferation in the basal layer area, contiguity of epidermal and dermal components, total width and depth of naevus, involvement of subcutaneous fat and of skin appendages, the presence or absence of an 'Indian file' type of naevus cell infiltration, cellular atypia and evidence of maturation of these cells. On the basis of these features, naevi were assigned to either a 'congenital type' or 'acquired type' classification, and their distribution in these two classifications then compared with the clinical history. It was found that in 107 of 112 lesions correct assignation had been made on histological grounds alone, 43 as congenital and 64 as acquired. A histological pattern not previously reported to be associated with congenital naevi was seen in 17 (34%) of the congenital lesions. This study suggests that it is possible to differentiate the majority of small congenital naevi from acquired naevi on histopathological grounds alone. This observation could be of considerable value in the examination of excised primary malignant melanomas for evidence of a pre-existing naevus of either type.

Granulomatous contact dermatitis due to gold earrings.

A young female developed persistent nodules at sites of ear piercing with gold earrings and patch testing demonstrated a positive allergic response to gold sodium thiosulphate. Histological examination of the nodules demonstrated a prominent sarcoidal-type granulomatous tissue reaction. This is in contrast to previous reports of lymphocytoma cutis type histology and was associated with the occurrence of epithelioid granulomata at the site of a strongly positive and long-lasting patch-test reaction.

Epidermolysis bullosa in Northern Ireland.

Cases of epidermolysis bullosa (EB) diagnosed in Northern Ireland during a 23-year period (1962-84) were identified from dermatology clinic files, paediatric hospital notes and cases known by general practitioners. A total of 48 confirmed new cases of EB were diagnosed during the screening period. This involved 31 families, with identification of 36 further cases. The distribution of incident EB subtypes was: simplex 31 (65%), junctional 1 (2%), dystrophic 12 (25%) and acquisita 4 (8%). The incidence rate of new cases of EB diagnosed per year is 1.4/million and prevalence of all forms estimated at 32/million. The prevalence of simplex, junctional and dystrophic forms is 28, 0.7 and 3/million, respectively.