Karsten Sönnichsen

Epidermolysis bullosa acquisita: Efficacy of high-dose intravenous immunoglobulins

A 16-year-old boy had a 6-year history of a generalized bullous eruption that was resistant to multiple therapies. Findings of immunofluorescent split-skin studies and electron microscopy were consistent with a diagnosis of epidermolysis bullosa acquisita. Treatment with cyclosporine and prednisolone decreased new blister formation. Additional therapy with high-dose intravenous immunoglobulins was successful in controlling the patients disease.

Molecular diagnostics facilitate distinction between lethal and non-lethal subtypes of junctional epidermolysis bullosa: a case report and review of the literature.

Abstract. The term epidermolysis bullosa (EB) encompasses a heterogeneous group of genodermatoses, characterised by fragility and blistering of the skin, often associated with extracutaneous manifestations. The clinical picture comprises severe subtypes with lethal outcome in the first years of life as well as milder subtypes with localised blistering or minimal symptoms confined exclusively to nail or teeth abnormalities. We present the case of a male infant, who was born with a few bullae and rapidly developed extensive blistering of the skin. The disease was complicated by painful erosions of the oral mucosa, refused ingestion, and recurrent infections. The child died at the age of 4 months because of cardiac failure due to severe sepsis. Antigen mapping of a skin biopsy showed a split within the lamina lucida of the epidermal basement membrane zone and junctional epidermolysis bullosa (JEB) was diagnosed within the first 3 weeks of life. Markedly reduced staining for laminin 5 indicated the Herlitz type of JEB (OMIM 226700), which could be confirmed by mutation analysis in the LAMB3 gene, showing homozygous nonsense mutations. Conclusion: early antigen mapping using antibodies against the proteins affected in epidermolysis bullosa, is a useful tool providing early mutation analysis and valuable prognostic information needed for adequate therapeutic strategies. The recently published literature on current diagnostic procedures and the revised classification system for inherited epidermolysis bullosa aim towards a better understanding of the disease.

Inflammatory nodules around the axilla: an uncommon localization of orf virus infection

Ecthyma contagiosum is a zoonosis of worldwide prevalence, caused by the orf virus. Orf is the type species of the parapoxvirus genus in the familiy Poxviridae. The virus primarily affects sheep and goats, with lesions on the lips and oral mucosa. Transmission to humans occurs in most cases by direct contact with infected animals or occasionally with contaminated fomites. In humans, solitary, red, infiltrated papulovesicular nodules are usually located on the fingers, hands and forearms, and may sometimes be partially necrotic or crusted. A 17-year-old man presented with inflammatory nodules located around the left axilla. He was living in a rural district of Germany and was not working professionally in agriculture. The referring physician considered an initial cutaneous anthrax infection. The nodules were noticed 5 days before presentation, and the patient reported rapid growth until his attendance. The three skin lesions appeared as solitary, well-circumscribed, painless, red, solid nodules with a diameter of 6 mm on an erythematous ground (Fig. 1). Physical examination showed enlarged lymph nodes palpable in the left axilla. There was no fever and full blood count was normal. Two nodules were excised for diagnostic purposes. Histological examination showed reticular degeneration of keratinocytes, intracellular eosinophilic bodies, oedema of the dermis and capillary proliferation. The differential diagnosis included granuloma teleangiectaticum and parapox virus infection. Immunofluorescence staining directed against a 39-kDa antigen specific for parapox viruses followed by visualization with confocal laser scanning microscopy showed a strong signal in degenerated keratinocytes (Fig. 2a). Virus particles with a typical oval shape were found in the subcorneal keratinocytes by electron microscopy (Fig. 2b), confirming the diagnosis of a parapox virus infection. Finally, orf virus DNA was detected by PCR in tissue sections from the patient. The lesion, which was not excised, was treated with topical antiseptic, and regressed during the following 5 weeks without scarring. In a directed interview during a follow-up visit, the patient reported that he occasionally assisted with sheep-shearing at a neighbouring farm, and had last done this 2 weeks before onset of the disease while wearing a sleeveless shirt. The unusual localization of the lesions was thus explained; the shearing required the patient to secure the animal’s head under the axilla, bringing the infectious mouth area of the sheep into direct contact with the uncovered skin. The diagnosis of ecthyma contagiosum is usually based on case history, clinical and histopathological findings. Examination by electron microscopy is recommended for confirmation of infection with parapox virus when diagnosis is equivocal. We were able to confirm the diagnosis of ecthyma contagiosum by immunofluorescence staining with an antibody specific for parapox virus and PCR for detection of orf virus DNA. Both analyses can be used on paraffin wax-embedded tissue, permitting rapid confirmation of ecthyma contagiosum, and offer an alternative when electron microscopy is not feasible.

Ulceroglandular tularemia: Ulceroglandular tularemia

An increasing number of patients with the zoonosis tularemia have been reported in the last few years in Europe. Tularemia can be divided into different forms depending on its appearance. Tularemia must be considered in the differential diagnosis of diseases that present with an ulcer and regional lymphadenopathy. The diagnosis can be confirmed by culturing Francisella tularensis. With effective antibiotic intervention, the prognosis is favorable. Typically tularemia develops after outdoor activities; it is generally transferred by blood‐sucking arthropods from infected wild animals to humans.

Adams-Oliver Syndrome - Follow-up of a Large Scalp Defect.

percentile). Physical exam after birth revealed a large parieto-occipetal scalp defect of 6 × 6 cm with prominent and tortuous scalp veins ( ● ▶ Fig. 1a ). Additional features were anomalies of the distal extremities with rudimentary, wide spaced toes with hypoplastic toenails ( ● ▶ Fig. 2 ); no further dismorphic signs were observed. An echocardiogram, head and abdominal ultrasound, an ocular exam and otoacoustic emission testing showed no pathologies. The karyotype was normal (46, XX). The mother had no antibodies against varicella-zoster virus and had not taken any medication or drugs during pregnancy. Twice a week the necrotic tissue of the scalp was debrided gently and a moist dressing with an octinidin gel under a hydrocolloid pad was applied in order to support the building up of granulation tissue. The patient was discharged 7 days after birth and was seen twice a week for re-evaluation and changing of the moist dressing ( ● ▶ Fig. 1a–f ). After 15 weeks the scalp defect was closed by scarring replacement tissue with very little irregular interspersed areas of hair growth within the centre and at the borders of the scar ( ● ▶ Fig. 1f ). The combination of the scalp defect and hypoplasia of the toes led to the diagnosis of AdamsOliver Syndrome (AOS).