Erythroderma (exfoliative dermatitis). Part 1: underlying causes, clinical presentation and pathogenesis.

Erythroderma (exfoliative dermatitis), first described by Von Hebra in 1868, manifests as a cutaneous inflammatory state, with associated skin barrier and metabolic dysfunctions. The annual incidence of erythroderma is estimated to be 1-2 per 100 000 population in Europe with a male preponderance. Erythroderma may present at birth, or may develop acutely or insidiously (due to progression of an underlying primary pathology, including malignancy). Although there is a broad range of diseases that associate with erythroderma, the vast majority of cases result from pre-existing and chronic dermatoses. In the first part of this two-part concise review, we explore the underlying causes, clinical presentation, pathogenesis and investigation of erythroderma, and suggest potential treatment targets for erythroderma with unknown causes.

Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations in KITLG.

BACKGROUND: Familial progressive hyper- and hypopigmentation (FPHH) is an autosomal dominant skin condition presenting in childhood with generalized macular dyspigmentation, usually reported in patients of East Asian origin. It overlaps phenotypically with other dyschromatoses, but can now be distinguished by mutations in the KIT ligand gene (KITLG). AIM: We report two unrelated white families with similar phenotypic presentations of FPHH developing in early childhood in several generations. METHODS: Sanger sequencing of the exons and flanking introns of KITLG was performed. RESULTS: This identified a new heterozygous missense mutation in each family (p.Thr34Asn and p.Val37Gly, respectively). Of the six affected individuals examined by us, two had cancer: a 62-year-old man in family 1 had developed two primary melanomas and a pharyngeal carcinoma, and a 42-year-old woman in family 2 had developed thyroid carcinoma. All had unusually sparse lateral eyebrows, a finding not previously reported in this condition. CONCLUSIONS: We summarize the genetic spectrum of the dyschromatoses and discuss a possible increased risk of malignancy in FPHH.

SNOLL. Sentinel node and occult (impalpable) lesion localization in breast cancer.

AIM: To evaluate the efficacy and safety for use of dual radioisotopes for localization of occult (impalpable) breast lesions and sentinel node biopsy as a combined technique (SNOLL) using a lower dose than previous studies. MATERIALS AND METHODS: One hundred and twenty-seven SNOLL procedures were performed. The impalpable breast lesions were localized with an intra-lesion injection of 0.2 ml of (99m)Tc MAA (1 MBq) with a particle size of 10-90 µm (radio-guided occult lesion localization, or ROLL) 1 to 4 h before surgery. Sentinel node localization was performed using 0.2 mls of (99)Tc nanocolloid (20 MBq) particle size no greater than 80 nm injected subdermally in the periareolar region within the index quadrant, the night before or the morning of surgery. RESULTS: Lesion localization was consistently achieved with a lower dose than that described in other studies without the need to use scintigraphy or additional imaging with radioopaque contrast medium. One hundred percent lesion localization with a negative clearance margin of 94.8% and 100% sentinel node localization was achieved. The use of dual radioisotopes with the lower dose used for ROLL did not compromise the localization of the impalpable lesion or the sentinel nodes. CONCLUSION: The combined use of radioisotopes for lesion and sentinel node removal is feasible and reliable with the lower radioisotope dose suggested compared with previously published studies. This method should be recommended as a standard procedure for SNOLL.

Cutaneous mucinosis associated with dermatomyositis and nephrogenic fibrosing dermopathy: fibroblast hyaluronan synthesis and the effect of patient serum.

BACKGROUND: Dermal mucin is an amorphous gelatinous substance composed primarily of hyaluronan (HA) and sulphated glycosaminoglycans (GAGs). In primary cutaneous mucinosis, accumulation of mucin is a characteristic feature of lichen myxoedematosus, scleromyxoedema and reticular erythematous mucinosis. Secondary mucinoses are disorders where mucin deposition is an additional finding, and deposition is associated with lupus erythematosus, dermatomyositis, scleroderma and granuloma annulare. The underlying cause of the abnormal mucin deposition is unknown. An increasing number of cases of a fibromucinous scleromyxoedema-like disorder associated with renal dysfunction, recently termed nephrogenic fibrosing dermopathy (NFD), is being reported. OBJECTIVES: To examine the synthesis of sulphated GAGs and HA by fibroblasts derived from uninvolved and involved skin of a patient with dermatomyositis and two patients with NFD, and the effect of patient serum. METHODS: GAGs were quantified by a radiometric assay and HA was determined by an enzyme-linked HA-binding protein assay. RESULTS: We found that fibroblasts derived from active lesions of NFD synthesize elevated levels of GAGs, and in particular HA, compared with normal controls, while serum from the patient with dermatomyositis and the two patients with NFD stimulates GAG synthesis, including HA synthesis, by both control and patient fibroblasts. CONCLUSIONS: Fibroblasts from patients with active NFD are either activated to synthesize elevated levels of HA or contain another cell type, possibly derived from circulating fibrocytes. In both disorders, there is additionally a serum-derived factor that stimulates production of sulphated GAGs and HA by fibroblasts.

Radio-guided localization of clinically occult breast lesions (ROLL): a DGH experience.

AIM: Wire-guided localization (WGL) of clinically occult breast lesions is a well established technique. The aim of this study was to evaluate radio-guided localization (ROLL) within the breast screening service of a district general hospital. METHOD: The study group comprised 70 women who underwent ROLL under US and stereotaxis. This required an injection of Technetium-labelled colloidal albumen into the impalpable breast lesion. The women then proceeded to theatre, where localization was achieved with the use of a gamma probe. The lesion was identified by the presence of a high signal, caused by the injected isotope. The results of 70 consecutive cases in which a breast lesion was localized using ROLL were compared with the results of the latest 70 WGLs. RESULTS: All 140 lesions were successfully localized. However, the change in technique from WGL to ROLL offered significant benefits to patients. CONCLUSION: Our study demonstrated that ROLL is a practical and reliable localization technique. It can be implemented in hospital units without using valuable gamma camera time. The cost compares well with WGL. There is an improved cosmetic outcome for patients, and the very small quantity of radioactivity used is safe for both patients and staff.

The role of ultrasound in the management of ovarian masses in children.

A retrospective study of 64 girls with ovarian cysts and tumours, diagnosed by ultrasound over 4 years, was undertaken. Most ovarian cysts were benign and conservative management with serial ultrasound scans helped to avoid unnecessary surgery. The incidence of surgery decreased from 18 operations in the first 2 years of the study to 10 operations in the second 2 years. All children for whom surgery is considered should have a pre-operative scan to determine whether the cyst has resolved. Immediate surgery is indicated in children who have a palpable mass, a solid mass, a mass associated with calcification, or a mass associated with persistent pyrexia. Appendix abscesses may mimic ovarian masses and can be correctly diagnosed by ultrasound.

Pulmonary sequestration: the value of ultrasound.

A child presented with a chest infection. A chest radiograph showed consolidation in the left lung base. This failed to clear in spite of adequate antibiotic therapy. Ultrasound examination (real-time) suggested pulmonary sequestration, and an aberrant blood supply was demonstrated. Subsequent angiography, surgery and pathological examination of the resected segment confirmed this.