Andreas W. Arnold

Cetuximab Therapy of Metastasizing Cutaneous Squamous Cell Carcinoma in a Patient with Severe Recessive Dystrophic Epidermolysis Bullosa

Dystrophic epidermolysis bullosa (EB) is a genetic skin fragility condition with propensity to skin cancer. The severest subtype is the generalized recessive dystrophic EB (RDEB), in which mechanically induced skin blisters and erosions heal with severe scarring. A common and potentially life-threatening complication in RDEB is cutaneous squamous cell carcinoma (SCC). In spite of generally good differentiation of SCC associated with RDEB (RDEB-SCC), the tumours behave in an aggressive manner and metastasize early. Despite the high prevalence of RDEB-SCC, systematic studies on therapeutic options have not been reported. Wide surgical excision is recommended, and unresectable cases have been treated with radiotherapy. Here we report the first treatment of metastasized RDEB-SCC with the epidermal growth factor receptor antagonist cetuximab (Erbitux®). The response was favourable, and adverse events were similar to those in patients without EB. Notably, no additional negative cutaneous effects, such as severer skin or mucosal blistering, occurred.

Laptop Computer–Induced Erythema ab Igne in a Child and Review of the Literature

We report here the case of a 12-year-old boy with erythema ab igne on his left thigh caused by the use of a laptop computer. This is the youngest of the 10 reported patients with this laptop-induced dermatosis since its first description in 2004. Erythema ab igne is a reticular, pigmented, sometimes telangiectatic dermatosis that is caused by prolonged exposure to a heat or infrared source. In laptop-induced erythema ab igne, the localization on the thighs and asymmetry are characteristic. The heat originates from the optical drive, the battery, or the ventilation fan of the computer.

Homozygosity for the c.917A--<T (p.N306l) polymorphism in the EVER2/TMC8 gene of two sisters with epidermodysplasia verruciformis Lewandowsky-Lutz originally described by Wilhelm Lutz

Background: Epidermodysplasia verruciformis Lewandowsky-Lutz (EV) is a rare genodermatosis, characterised by development of numerous verrucous skin lesions caused by specific genotypes of human papillomaviruses belonging to the β-papillomavirus genus. The EV loci were mapped to chromosome 2p21–p24 (EV2) and 17q25 (EV1). On chromosome 17, 2 adjacent related genes – EVER1/TMC6 and EVER2/TMC8 – were identified. We reinvestigated 2 patients originally described by Wilhelm Lutz in 1946 with the aim to document the natural course of the disease and confirm his diagnosis. Methods: PCR fragments specific for exons with short flanking intron sequences of EVER1/TMC6 and EVER2/TMC8 genes from patients’ DNA were amplified using sequence information. The single-nucleotide polymorphism (SNP) rs7208422 was studied, using restriction fragment length polymorphism analysis. Results: In the index patient, we identified a homozygous TT genotype in exon 8 of the EVER2/TMC8 gene (c.917A → T, p.N306I). The same mutation could thereafter be detected in her sister from paraffin-embedded skin. Conclusion: We have followed one of the first patients described with EV in Basel, Switzerland, in 1930 until today and demonstrated the TT genotype (SNP rs7208422) in the EVER2/TMC8 gene in this index patient and her sister. The results underline the possible relevance of SNP rs7208422 by influencing the susceptibility to β-papillomaviruses and their oncogenic potential.

Type 1 Segmental Galli-Galli Disease Resulting from a Previously Unreported Keratin 5 Mutation

Abbreviations: DDD, Dowling-Degos disease; EBS, epidermolysis bullosa simplex; GGD, Galli-Galli disease; K5, Keratin 5; KRT5, Keratin 5 gene; LDM, laser dissection microscopy; OMIM, Online Mendelian Inheritance in Man

Superimposed linear psoriasis unmasked by therapy with adalimumab

Several inflammatory skin disorders with a polygenic mode of inheritance (e.g. psoriasis, atopic dermatitis, vitiligo, and lichen planus) sometimes show, by way of exception, a segmental distribution. Superimposed linear psoriasis is an exceedingly rare disorder, but it has been found in both vulgaris and pustular types. This manifestation is probably either due to postzygotic allelic loss at one of the responsible gene loci, or to a postzygotic new mutation at an additional predisposing gene locus. In our case, a unilateral Blaschko-linear distribution was unmasked after treatment of severe non-segmental psoriasis with adalimumab (Humira(R)), reflecting an increased mutational burden of the segmentally involved area.

Phacomatosis melanorosea without extracutaneous features: an unusual type of phacomatosis pigmentovascularis.

Phacomatosis pigmentovascularis (PPV) represents a group of different types of didymosis (twin spotting) characterized by the coexistence of a large pigmentary nevus such as a mongolian spot, café-au-lait macule or macular nevus spilus, and an extensive telangiectatic nevus, such as nevus flammeus or nevus roseus. We describe a third case of phacomatosis melanorosea and discuss the denotation of this neologism.

A case of refractory pyoderma gangrenosum treated with a combination of Apligraf and systemic immunosuppressive agents.

Pyoderma gangrenosum (PG) is a rare inflammatory ulcerative skin disease. A case of refractory PG treated with a combination of immunosuppression and Apligraf (Organogenesis, Canton, Massachusetts) is presented. Under infliximab, systemic corticosteroids, and Apligraf, the wound showed a slow but complete healing. The authors demonstrated the potential benefits of Apligraf in the healing of PG.

HIV-positive child with epidermodysplasia verruciformis-like lesions and homozygous mutation in TMC6

First released onto the market in 2008 [1], the HIV-1 integrase inhibitor raltegravir is recommended for the treatment of HIV-1 infection in treatment-naive or experienced patients when combined with other antiretroviral agents. Raltegravir is generally well tolerated, with adverse reactions comparable to placebo [2,3]. Gastrointestinal upset, headaches, transaminase elevation, creatine kinase elevation and pruritis have all been described as occasional side-effects. Rare adverse reactions include myopathy and rhabdomyolysis. There is one case report of raltegravir-induced rhabdomyolysis leading to renal failure [4]. Although central nervous system sideeffects such as dizziness and depression have been observed in patients taking raltegravir, cerebellar ataxia associated with raltegravir has not been previously reported [5].

Melanom – Endlich gute Neuigkeiten

Until two years ago, there was no systemic therapy that prolonged overall survival in patients with malignant melanoma. In the meantime, two new therapeutic approaches have improved the prognosis of this disease. Ipilimumab is an activator of cytotoxic T-cells. It induces an immune response which results in prolonged remission in 15-20% of patients. Vemurafenib is a specific BRAF inhibitor and induces quick and sometimes complete remissions in patients with BRAF V600E mutated melanomas. Thus, there are two new treatments with proven survival benefit in patients with metastatic melanoma.

Acromelanosis albo-punctata: a distinct inherited dermatosis with acral spotty dyspigmentation without systemic involvement.

We describe an otherwise healthy 7-year-old boy who developed confetti-like hypopigmented macules on the dorsal aspects of the hands and feet, spreading to the palms and soles a few months after birth. In 1964 Siemens introduced the term acromelanosis albo-punctata to describe the skin features of a patient who has remained the only reported case in the literature so far and who strongly resembles our patient. By genetic testing we excluded mutations in genes known to be involved in diseases with acral hypo- or hyperpigmentation. We review the differential diagnosis of acral localized spotty dyspigmentation and conclude that acromelanosis albo-punctata may represent a distinct entity.