Acneiform eruption in a patient with metastatic melanoma after ceasing combination dabrafenib/trametinib therapy.

BRAF inhibitors (BRAFi) and MEK inhibitors (MEKi) increase survival in BRAF mutant metastatic melanoma patients; however, they induce a well-known spectrum of cutaneous side effects during treatment. Whereas the BRAFi dabrafenib induces cutaneous squamous cell carcinomas and verrucal keratosis, the MEKi trametinib frequently induces acneiform eruptions that are reversible after drug discontinuation. Furthermore, when dabrafenib and trametinib are used in combination, there are fewer cutaneous toxicities. We report a patient with BRAF mutant metastatic melanoma treated with the BRAFi/MEKi combination therapy who developed an acneiform eruption after treatment discontinuation rather than during active therapy. Moreover, the eruption resolved when the combination treatment was reintroduced and recurred after increasing the dose of trametinib. The eruption may be explained by the longer half-life of trametinib (4.5 days) compared with dabrafenib (5.2 h). This is the first case reported with this particular side effect induced after stopping the treatment and could become more frequent as the BRAFi/MEKi combination of drugs is more frequently prescribed.

A novel missense mutation in exon 7 of the ECM1 gene in an Iranian lipoid proteinosis patient.

Lipoid proteinosis (LP) is a rare autosomal recessive disorder. Classical clinical features include warty skin infiltration, papules on the eyelids, skin scarring, as well as extracutaneous abnormalities such as hoarseness of the voice, epilepsy, and neuropsychiatric abnormalities. A defect in the ECM1 gene is responsible for this disease. A 21-year-old female patient from consanguineous parents (first cousins) was referred to our clinic with many symptoms of LP, such as hoarse voice from infancy, diffuse acneiform scars on her face, and hyperkeratosis on her knees and elbows. The entire ECM1 gene was screened using PCR and sequencing. A novel missense mutation was found in exon 7 of this patient. We report a novel missense mutation in exon 7 of the ECM1 gene found in an Iranian LP patient that causes a C269Y amino acid exchange.

Presentación de enfermedad de Galli-Galli como pápulas liquenoides flexurales / Galli-Galli disease presenting as Lichenoid Papules in the flexures

La enfermedad de Galli-Galli (EGG) es una genodermatosis rara considerada actualmente como la variante acantolítica de la enfermedad de Dowling-Degos (EDD), con la que comparte sus manifestaciones clínicas: hiperpigmentación reticular en grandes pliegues cutáneos, pápulas y placas eritemato-descamativas, lesiones tipo comedón y cicatrices acneiformes peribucales. El hallazgo histológico de acantólisis, generalmente en ausencia de disqueratosis, constituye el único elemento diferenciador de ambas. Resumen: Presentamos el caso de una paciente con pápulas flexurales hiperpigmentadas en pliegues como único hallazgo de EGG y revisamos la literatura (AU)

Galli-Galli disease is a rare genodermatosis currently regarded as an acantholytic variant of Dowling-Degos disease. The 2 diseases have the same clinical features: reticular hyperpigmented macules in the great skin folds, erythematous scaly papules and plaques, comedo-like lesions, and pitted perioral scars, and the only differentiating characteristic is the histological finding of acantholysis, usually without dyskeratosis. We describe the case of a patient with hyperpigmented papules in the skin folds as the only sign of Galli-Galli disease, and we present a review of the literature (AU)

[Eruptive xanthomas with hypertriglyceridemia]. / Eruptive Xanthome bei Hypertriglyzeridämie.

Eruptive xanthomas are often associated with elevated plasma levels of triglyceride-rich lipoproteins and may be a marker for occult hyperlipidemia, diabetes mellitus or pancreatitis. A 42-year-old woman presented with the acute onset of disseminated eruptive xanthomas secondary to hyperlipidemia associated with diabetes and concomitant acute pancreatitis. She improved after optimized insulin therapy and intensified treatment of hyperlipidemia. Eruptive xanthomas should be diagnosed early and lead to further metabolic evaluations.

Management of primary cicatricial alopecias: options for treatment.

Primary cicatricial alopecias (PCAs) are a poorly understood group of disorders that result in permanent hair loss. Clinically, they are characterized not only by permanent loss of hair shafts but also of visible follicular ostia along with other visible changes in skin surface morphology, while their histopathological hallmark usually (although not always) is the replacement of follicular structures with scar-like fibrous tissue. As hair follicle neogenesis in adult human scalp skin is not yet a readily available treatment option for patients with cicatricial alopecias, the aim of treatment, currently, remains to reduce symptoms and to slow or stop PCA progression, namely the scarring process. Early treatment is the key to minimizing the extent of permanent alopecia. However, inconsistent terminology, poorly defined clinical end-points and a lack of good quality clinical trials have long made management of these conditions very challenging. As one important step towards improving the management of this under-investigated and under-serviced group of dermatoses, the current review presents evidence-based guidance for treatment, with identification of the strength of evidence, and a brief overview of clinical features of each condition. Wherever only insufficient evidence-based advice on PCA management can be given at present, this is indicated so as to highlight important gaps in our clinical knowledge that call for concerted efforts to close these in the near future.

Erupción acneiforme aguda secundaria a cetuximab con buena respuesta a metronidazol / Acute acneform eruption secondary to cetuximab with good response to metronidazole

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Efectos cutáneos de los inhibidores del receptor del factor de crecimiento epidérmico / Epidermal growth factor receptor inhibitors side effects

Los inhibidores del receptor del factor de crecimiento epidérmico (EGFR) son una nueva clase de fármacos para el tratamiento de diversas neoplasias. En la actualidad existen tres fármacos aprobados: gefitinib y erlotinib para el carcinoma de pulmón no de células pequeñas, y cetuximab para el cáncer de colon. Estas sustancias producen con mucha frecuencia efectos adversos cutáneos entre los que se encuentran entre otros las erupciones acneiformes, las paroniquias, la xerodermia generalizada. En el presente trabajo se realiza una revisión de estos efectos adversos así como de su tratamiento

Epidermal growth factor receptor (EGFR) inhibitors are a new group of drugs used in the treatment of several malignancies. Three molecules are approved at the moment: gefitinib and erlotinib for the treatment of non-small-cell lung cancer, and cetuximab for colorectal cancer. These drugs originate cutaneous side effects with a high frequency: acneiform rashes, paronychia and generalized xerodermia. In this paper we review these common side effects and how to manage them

Dermatosis perforante por gefitinib / Gefitinib-induced perforating dermatosis

El gefitinib (Iressa®) es un nuevo agente antineoplásico que actúa inhibiendo selectivamente la tirosina cinasa del factor de crecimiento epidérmico (EGFR-TK). Ha demostrado actividad frente a varios tumores sólidos. Por su mecanismo de acción, el gefitinib y otros inhibidores de tirosina cinasa se han asociado a múltiples efectos cutáneos dermatológicos, la mayoría de ellos leves y bien tolerados. Se presenta un caso de dermatosis perforante tras tratamiento con gefitinib

Gefitinib (Iressa®) is a new antineoplastic agent that acts by selectively inhibiting epidermal growth factor receptor tyrosine kinase (EGFR-TK). It has shown activity against several solid tumors. Because of their action mechanism, gefitinib and other tyrosine kinase inhibitors have been associated with multiple cutaneous effects, most of which are mild and well tolerated. We present a case of perforating dermatosis after treatment with gefitinib

Aportación a las erupciones acneiformes por inhibidores del receptor del factor de crecimiento epidérmico / Contribution to acneiform eruptions by epidermal growth factor receptor inhibitors

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Papulopustular skin lesions are seen more frequently in patients with Behçet's syndrome who have arthritis: a controlled and masked study.

OBJECTIVE: To determine the prevalence of acneiform skin lesions (comedones, papules, and pustules) in patients with Behçet's syndrome (BS) with arthritis. METHODS: Study groups included 44 patients with BS with arthritis (32 men, 12 women, mean (SD) age 37.8 (8.9)), 42 patients with BS without arthritis (31 men, 11 women, mean age 35.5 (6.4)), 21 patients with active rheumatoid arthritis (five men, 16 women, mean age 48.8 (14)), and 33 healthy volunteers (28 men, five women, mean age 40.1 (8.1)). All probands and controls were examined by a rheumatologist and a dermatologist, in a prospective and masked protocol. An ophthalmological evaluation was performed if necessary. Skin lesions, including comedones, papules, and pustules, were counted and scored as 0: absent, 1: 1-5, 2: 6-10, 3: 11-15, 4: 16-20, and 5: >20. RESULTS: Although there was no significant difference between the four groups in the prevalence of comedones, the number of papules and pustules was significantly higher in patients with BS with arthritis (p=0.0037 for papules and p<0.0001 for pustules) than in the remaining three groups. CONCLUSION: Acneiform skin lesions (papules and pustules) seem to be more frequent in patients with BS with arthritis. This suggest that the arthritis seen in BS may possibly be related to acne associated arthritis.