Although primary nodular amyloidosis is a rare entity it seems to be the most frequent presentation of penile-limited cutaneous disease, with a low incidence of systemic involvement.
Demand for dermatology continues to increase: new referrals have risen by 134% in 30 years, with a 36% increase in the last 5 years, despite corresponding population increases of 5·3% and 3%, respectively.
A 70-year-old man presented with an 8-week history of an isolated painless forehead lesion, which had been gradually enlarging. He had a history of Crohn disease, which had been controlled for over 10 years with azathioprine. Physical examination revealed a solitary plaque 20 9 19 mm) on the mid-forehead with a nontender pink fleshy base and prominent central ulceration, in the absence of palpable lymphadenopathy (Fig. 1a). Histopathological findingsA diagnostic biopsy demonstrated infiltration of the dermis and subcutaneous tissue by a large, pleomorphic lymphocyte population with no obvious epidermotropism. Immunophenotyping showed the large atypical cells to be positive for CD20, CD30, and MUM-1, and negative for CD3, CD5, CD10, cyclin-D1 and ALK-1. In situ hybridization (ISH) for Epstein-Barr virus (EBV) was strongly positive within the large cells. Many reactive T cells were present. A staging computed tomography scan was normal, as were full blood count, lactate dehydrogenase and biochemistry profile. Plasma EBV PCR was positive. Azathioprine was discontinued, resulting in complete resolution of this lesion within a month (Fig. 1b).What is your diagnosis?
The authors report the case of a male neonate, born at full term by uncomplicated spontaneous vaginal delivery to non-consanguineous parents, who was noted to have areas of desquamation over the elbows, lower abdomen and scrotum within an hour of birth. Over the subsequent 48 h, flaccid blisters developed on the trunk and limbs, followed by extensive erosions, on a background of subtle generalised erythema, resembling that seen in staphylococcal scalded skin syndrome and toxic epidermal necrolysis. Although the baby remained afebrile and fed well, he was treated empirically with flucloxacillin, and an infection screen proved negative. There was no relevant family history. The clinical impression was that these signs represented an inherited blistering disorder. In order to exclude severe forms of epidermolysis bullosa, sections of frozen perilesional skin were stained, on postnatal day 2, with two commercially available antibodies, GB3 (a marker of laminin 332) and LH7.2 (a marker of type VII collagen): their normal expression excluded potentially life-threatening forms of junctional and dystrophic epidermolysis bullosa, respectively. Formal histological examination of lesional skin revealed a cleavage plane in the upper epidermis associated with dyskeratosis and clumped tonofilaments (“epidermolytic hyperkeratosis”), entirely consistent with bullous ichthyosiform erythroderma (BIE). Over the next few months, the tendency to blistering diminished, and a generalised dryness developed, in association with areas of “corrugated hyperkeratosis” typical of BIE. This case is likely to represent a sporadic mutation in one of the genes encoding either keratin 1 or 10. This case illustrates two important aspects relating to babies that develop a blistering and scalded appearance (“enfant brûlé”) in the neonatal period. The first is that such an appearance may indicate an inherited bullous disorder rather than an infective or reactive process. The second is that the primary diagnosis can often be quickly reached using very basic procedures, including direct immunofluorescence and routine histology.
Diseases of the skin appendages (hair and nail apparatus), viral infections and allergy are some of the most challenging problems that dermatologists deal with on a day-today basis. In addition to providing updates on recent advances in research, the symposium explored some of the management conundrums and misconceptions about a number of diseases in these subspecialist fields. The speakers also aimed to shed some light on the complex relationship between vitamin D and cardiovascular disease, skin cancer and the evolution of skin colouration.
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