Novel compound heterozygous mutations in the desmoplakin gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy.

A 2-month-old white girl born to nonconsanguineous parents presented to the dermatology department with hair loss that had commenced a few months after birth. Although her hair loss later stabilized, it remained sparse. By the age of 2 years, she was noted to have developed focal keratoderma over pressure points of the soles. Aged 5 years, she was admitted to hospital with a chest infection, and investigations at that point revealed that she had a dilated cardiomyopathy. Subsequent genetic investigations identified compound heterozygous mutations in the 3' end of the desmoplakin (DSP) gene (7567delAAGA and 6577G>A), explaining the cardiocutaneous phenotype.

Elastosis perforans serpiginosa and associated disorders.

We report elastosis perforans serpiginosa (EPS) arising in three patients with Ehlers-Danlos syndrome, osteogenesis imperfecta and Down's syndrome. These cases illustrate some of the rare but well-recognized disease associations with EPS. The other causes of EPS are reviewed.

Topical tacrolimus in the management of peristomal pyoderma gangrenosum.

BACKGROUND: Peristomal pyoderma gangrenosum (PPG) is a potentially disabling disease in stoma patients. Topical tacrolimus has been shown to be effective in the management of pyoderma gangrenosum. Unfortunately, greasy topical treatments may be impractical for PPG because of impaired appliance adhesion. OBJECTIVE: The purpose of this open study was to evaluate the therapeutic effectiveness of topical tacrolimus 0.3% formulated in carmellose sodium paste compared with topical corticosteroid preparations in the management of PPG. RESULTS: A total of 11 patients with PPG received treatment with topical tacrolimus 0.3% in Orabase trade mark and 13 with topical clobetasol propionate 0.05% as monotherapy in each case. Seven of the tacrolimus-treated group healed completely (mean time to healing: 5.1 weeks) compared with five of the clobetasol propionate-treated group (mean time to healing: 6.5 weeks). Topical tacrolimus was significantly more effective than clobetasol propionate in managing larger PPG lesions (ulcer diameter > 2 cm). In six patients, who had failed to respond adequately to multiple systemic and topical treatments for PPG, the addition of topical tacrolimus was associated with healing of PPG within 6 weeks. CONCLUSION: These results suggest that topical tacrolimus 0.3% in Orabase trade mark is a more effective and expeditious treatment than clobetasol propionate 0.05% for PPG. It is significantly more effective than clobetasol propionate 0.05% in managing lesions larger than 2 cm in diameter. Topical tacrolimus may be highly effective when other systemic or topical treatments have been unsuccessful.

A method for detecting current temporal clusters of toxic events through data monitoring by poison control centers.

BACKGROUND: Poison control centers have become a widely recognized source of data for chemical and other environmental exposures. Concurrently, increased emphasis on early identification of temporal clustering of toxic exposures has stimulated development of sensitive statistical methods to detect clusters at the time of occurrence. METHOD: This paper discusses the scan test which has been applied to retrospective data to detect carbon monoxide poisoning clusters. We propose a more sensitive method, based on the binomial distribution to detect current clusters of only 1 or more days duration during the ongoing data collection and monitoring process. RESULTS: Applied to daily carbon monoxide poisoning incidence data on which the scan test has been applied, the new test for current clustering evidently has much more power. For retrospective identification of previous clusters lasting more than 1 day, the scan test is recommended. However, for previous daily clusters, a third method is recommended. CONCLUSION: Certain toxic events such as carbon monoxide poisoning occasionally occur in daily clusters, or in clusters lasting a few days. Timely detection of clusters requires application of early intervention strategies fostered by sensitive statistical methods of detection, as presented here.

Unique immunobullous disease in a child with a predominantly IgA response to three desmosomal proteins.

We report the case of a 15-year-old girl who presented at 11 years of age with an interesting, acquired and, to our knowledge, unique blistering disease. It involved both skin and mucous membranes with extensive oral and periungual lesions, clinically resembling paraneoplastic pemphigus. Skin biopsy showed an inflammatory cell infiltrate in the upper dermis with numerous leucocytoclastic nuclear fragments, neutrophilic papillary microabscesses and a small subepidermal bulla. Direct and indirect immunofluorescence studies showed marked intercellular staining with IgA and less prominent staining with IgG. Granular deposition of IgA and, to a lesser extent IgG and C3, was also seen along the basement membrane zone. Immunoblotting and enzyme-linked immunosorbent assay studies showed both IgG and IgA antibodies to desmocollin, desmoglein 3 and desmoplakin. However, despite extensive investigation, no underlying neoplasm was found. Treatment with dapsone and sulphapyridine proved ineffective but methylprednisolone and azathioprine have reduced the blistering. We believe that this patient is unique for her combination of IgA and IgG antibodies to desmoplakin, desmocollin and desmoglein 3, although further studies may provide further clarification.

Total laparoscopic hysterectomy using the harmonic scalpel.

Total laparoscopic hysterectomy (TLH) is the complete hysterectomy including transection of the uterine vessels and opening/closure of the vaginal vault performed laparoscopically. This procedure can be performed as an alternative to total abdominal hysterectomy in many cases. We previously found use of the harmonic scalpel to be extremely helpful in performing laparoscopically assisted vaginal hysterectomies. In this series, the harmonic scalpel was used to facilitate performing TLH. Our experience has shown this can be performed without major complications in a cost-effective manner.

Adult-onset Langerhans cell histiocytosis associated with severe abscesses.

We describe the case of an elderly lady who presented with a severe crusting skin eruption, mainly affecting the flexural areas and trunk. A diagnosis of Langerhans cell histiocytosis was confirmed by electron microscopy, and her condition was eventually controlled with systemic prednisolone and short courses of etoposide. An unusual feature of this case was the development of severe pyogenic abscesses, particularly involving the cervical region. No underlying immunological defect has been found to explain this.

Basal cell carcinoma: a diagnostic opportunity for the dental surgeon.

Basal cell carcinoma is the most common form of skin cancer and usually occurs in the head and neck region. Most basal cell carcinomas grow slowly and behave in a relatively benign, nonaggressive fashion, but a proportion of them grow rapidly and infiltrate the structures beneath the skin. The dental surgeon may well come across this tumour and is in an ideal situation to recognize it. The aim of this article is to describe the clinical features of this common skin tumour and to provide a differential diagnosis. Early recognition of a basal cell carcinoma by the dental practitioner means that the patient can be referred for a specialist opinion and the tumour treated while it is still small.

Sarcoidosis of the tongue.

A 43-year-old man with an 8-month history of swelling of the tongue is described. Biopsy of the tongue revealed numerous epithelioid cell granulomata. A positive Kveim test, elevated angiotensin converting enzyme level and bilateral hilar lymphadenopathy confirmed the diagnosis of sarcoidosis. Sarcoidosis presenting in the tongue is extremely rare.