A congenital smooth muscle hamartoma masquerading as a reticulate vascular naevus.

Smooth muscle hamartoma (SMH) is a benign congenital or acquired hamartomatous lesion comprising a dermal proliferation of smooth muscle bundles. We report a case of congenital SMH with an unusual clinical appearance. A 3-year-old girl presented with an asymptomatic atrophic linear lesion on the posterior surface of her right thigh, which had been present since birth. The striking resemblance to a vascular lesion initially led to the erroneous clinical diagnosis of atrophic reticulate vascular naevus. However, a skin biopsy showed typical features of SMH. To our knowledge, SMH with linear configuration has only been described in two previous cases, and there are no previous reports of SMH with such a marked resemblance to a vascular lesion.

Toxic epidermal necrolysis: retrospective analysis of 21 consecutive cases managed at a tertiary centre.

BACKGROUND: Toxic epidermal necrolysis (TEN) is a rare, severe blistering disease. Outcome data in British patients is limited to case reports or small series. AIMS: To characterize the aetiology, clinical features, complications and outcome in TEN, and to evaluate the effect of treatments including intravenous immunoglobulin (IVIg). METHODS: This was a retrospective study of 21 consecutive patients with histologically confirmed TEN presenting between 1995 and 2007 to a tertiary referral unit for TEN in a university hospital in the UK. RESULTS: The mean age of the patients was 53.5 years. The mean surface area of denuded skin was 44% (range 30-90%). An adverse drug reaction was implicated in all patients, with mean time of TEN onset being 17 days (range 2-41 days) after initial drug exposure. The SCORTEN index was calculated in 19 patients (median SCORTEN 3, range 2-5). The SCORTEN predicted 7.3 deaths in this cohort, and 7 deaths were seen in the group of patients for whom SCORTEN was calculated. The overall mortality was 8/21 (38%). Ten patients received corticosteroids before transfer to our centre. In the steroid-treated group 4/10 patients (40%) died, and 4/11 patients (36%) who were not treated with steroids also died. Between 1995 and 2000, patients were treated with cyclophosphamide 1.5 mg/kg/day (n=2; both died) and subsequently with ciclosporin 2.5-4 mg/kg/day (n=3; 2 deaths). From 2000, patients were treated with IVIg 0.4-1 g/kg/day (n=14; 3 deaths); the SCORTEN-predicted mortality in this group was 5 deaths. Complications included sepsis (n=18), and organisms included Enterococcus, Acinetobacter, Staphylococcus aureus and methicillin-resistant S. aureus strains). Other complications included anaemia (n=17), lymphopenia (n=11) and neutrophilia (n=9). The presence of neutropenia (n=6; 4 deaths), renal impairment (n=5; 4 deaths) and disseminated intravascular coagulation (n=4; all died) were strong risk factors for mortality. Of 12 patients with ocular involvement, 6 (50%) developed symblepharon and/or visual impairment. CONCLUSIONS: This study confirmed the validity of SCORTEN in our series. In the subgroup treated with IVIg, there were three deaths, compared with the SCORTEN predicted mortality of five deaths. Corticosteroids did not seem to be beneficial.

Assessing the assessments: U.K. dermatology trainees' views of the workplace assessment tools.

BACKGROUND: The workplace assessments, direct observation of procedural skills (DOPS), mini-clinical evaluation exercise (mini-CEX) and multisource feedback (MSF, formerly known as 360 degrees appraisal), are now mandatory during dermatology specialist training in the U.K. The opinions of those undergoing such assessments in any medical specialty have rarely been sought. OBJECTIVES: To collate the experience and views of U.K. dermatology trainees on the three workplace assessments. METHOD: A questionnaire was circulated in autumn 2006 to all U.K. dermatology specialist registrars (SpRs) registered as members of the British Association of Dermatologists (n = 269). RESULTS: A total of 138 responses were received (51%). Seventeen SpRs had not experienced any of the assessments; 92 had undergone MSF, 95 DOPS and 54 mini-CEX. The total experience of the respondents amounted to a minimum of 251 DOPS, 122 MSF and 142 mini-CEX. Trainees appreciated the formative aspects of the assessments, especially feedback and training opportunities, although not all trainees reported receiving useful feedback. MSF was praised for the insights that it provides. All of the assessments were found to be time-consuming and difficult to organize. DOPS and mini-CEX carried a degree of stress and artificiality. Concerns were raised over the possibility of victimization by MSF raters. Discussion of performance in the assessments was rarely prominent in trainees' annual summative reviews. CONCLUSIONS: Trainees appreciate the formative benefits which derive from the assessments, namely feedback, reassurance of satisfactory performance and, in the case of DOPS and mini-CEX, additional one-to-one training from consultants. Some problems came to light. The issues raised will not be unique to dermatology and other specialties should take note.

Keratinocyte cytogenetics in 10 patients with pigmentary mosaicism: identification of one case of trisomy 20 mosaicism confined to keratinocytes.

BACKGROUND: Hypomelanosis of Ito and linear and whorled hypermelanosis are pigmentary disorders that follow Blaschko's lines and are associated with cytogenetic mosaicism. However, mosaicism cannot always be shown using conventional karyotyping of blood lymphocytes or skin fibroblasts. This may be because these cell lines originate from mesoderm, whereas Blaschko's lines are an ectodermal phenomenon. OBJECTIVES: To investigate the diagnostic value of keratinocyte cytogenetics in patients with pigmentary mosaicism (PM). METHODS: We undertook a prospective study of 10 patients with clinically suspected PM. Previous karyotyping of blood, and in some cases skin fibroblasts, was normal in all cases. Keratinocytes and fibroblasts were cultured from skin biopsies taken from light and dark skin, and examined for cytogenetic abnormalities. RESULTS: In 9 of 10 cases both keratinocyte and fibroblast cytogenetic analyses were normal. The remaining patient showed trisomy 20 mosaicism confined to keratinocytes from hypopigmented skin. Fluorescent in situ hybridization using a probe for 20q confirmed trisomy 20 mosaicism in keratinocytes but not fibroblasts, with higher signal expression in hypopigmented compared with normal skin. CONCLUSIONS: In patients with clinically suspected PM but normal blood cytogenetics, keratinocytes may be more sensitive than skin fibroblasts in identifying cytogenetic mosaicism in selected patients. However, the additional diagnostic yield appears to be insufficient to justify routine keratinocyte cytogenetic investigation. Our findings indirectly support the hypothesis that Blaschko's lines delineate the embryonal migration paths taken by ectodermal cells including keratinocytes and melanocytes.

Fibroadenoma of the anogenital region.

Fibroadenoma of the anogenital region is a rare tumour histologically similar to fibroadenoma of the breast. Morphological and immunophenotypic features of a case with pseudoangiomatous stromal hyperplasia are presented here.

Allogeneic bone marrow transplantation in a 7-year-old girl with congenital erythropoietic porphyria: a treatment dilemma.

Congenital erythropoietic porphyria (CEP, Günther's disease) has a very variable phenotype. In the more severely affected, bone marrow transplantation (BMT) is potentially curative, but is not without risks. We describe a 7-year-old girl with CEP characterized by severe photosensitivity but only mild anaemia, in whom the difficult decision to proceed with allogeneic BMT was made after discussion in a multidisciplinary team. She has shown successful engraftment, accompanied by biochemical and clinical resolution of her metabolic disease. She remains well 3 years later, the oldest patient with CEP receiving BMT to survive beyond 12 months. However, she has experienced significant morbidity including florid cutaneous graft-versus-host disease with postinflammatory hypopigmentation. Her case is important in highlighting the delay in diagnosis not uncommon in this condition and the complex decision-making process involved in proceeding with BMT.

Lethal cardiomyopathy in epidermolysis bullosa associated with amitriptyline.

There are previous reports of dilated cardiomyopathy (DCM) in recessive dystrophic epidermolysis bullosa (RDEB), a debilitating blistering skin disorder. The pathogenesis of DCM in RDEB remains uncertain, although dietary deficiency of selenium and carnitine have been implicated. A 6 year old girl with RDEB who died of DCM is reported; attention is drawn to the possible role of two potentially cardiotoxic drugs, amitriptyline and cisapride.