The Circulating Transcriptome as a Source of Biomarkers for Melanoma.

The circulating transcriptome is a valuable source of cancer biomarkers, which, with the exception of microRNAs (miRNAs), remains relatively unexplored. To elucidate which RNAs are present in plasma from melanoma patients and which could be used to distinguish cancer patients from healthy individuals, we used next generation sequencing (NGS), and validation was carried out by qPCR and/or ddPCR. We identified 442 different microRNAs in samples, eleven of which were differentially expressed ( < 0.

Does Schwann cell dedifferentiation originate dermal neurofibromas?

Dermal neurofibromas are characteristic of neurofibromatosis type one (NF1), and their developmental origin still unsolved. Although NF1 loss is required for neurofibroma initiation, some features of these benign tumors resemble a skin injury state and cutaneous trauma or other insults might support tumor development. Since adult terminal Schwann cells ensheathing nerve endings are able to dedifferentiate into a progenitor-like state in response to nerve crushing, we hypothesized that dedifferentiation of NF1 Schwann cells could be at the origin of human dermal neurofibromas.

Facial lesions in frontal fibrosing alopecia (FFA): Clinicopathological features in a series of 12 cases.

Background: Facial lesions in frontal fibrosing alopecia (FFA) have been poorly described in published series.

Objective: We sought to describe facial lesions in FFA.

Methods: We reviewed our series of 55 cases of FFA, selecting 12 cases with clinically significant facial lesions.

Predictors of Tumor Response to Cetuximab and Panitumumab in 116 Patients and a Review of Approaches to Managing Skin Toxicity.

Introduction And Objectives: Cetuximab and panitumumab are monoclonal antibodies that target the epidermal growth factor receptor (EGFR) in the treatment of metastatic colorectal cancer. Most patients develop a papulopustular rash, which may predict tumor response. We studied whether the other adverse cutaneous effects associated with these monoclonal antibodies are also clinical predictors of response.

Association between EGFR gene polymorphisms, skin rash and response to anti-EGFR therapy in metastatic colorectal cancer patients.

Cetuximab and panitumumab are epidermal growth factor receptor (EGFR) inhibitors used in metastatic colorectal cancer (mCRC). Most patients develop a papulopustular rash that may predict tumor response to treatment. EGFR gene polymorphisms may also determine tumor response and appearance of skin rash.

Epithelial to mesenchymal transition markers are associated with an increased metastatic risk in primary cutaneous squamous cell carcinomas but are attenuated in lymph node metastases.

Background: Cutaneous squamous cell carcinoma (cSCC) is the second most common malignancy in humans and approximately 5% metastasize, usually to regional lymph nodes. Epithelial to mesenchymal transition (EMT) is a process involving loss of intercellular adhesion, acquisition of a mesenchymal phenotype and enhanced migratory potential; epithelial markers, such as E-cadherin, are down-regulated and mesenchymal proteins (Vimentin), increased.

Objective: To investigate the expression of EMT markers in metastatic SCC (MSCC) and their corresponding metastases, and to correlate them with clinico-pathological factors associated with an increased risk of metastasis.

Skin-derived precursor cells as an in vitro modelling tool for the study of type 1 neurofibromatosis.

The most characteristic feature of neurofibromatosis type 1 (NF1) is the development of neurofibromas. It has been suggested that these tumors are caused by somatic inactivation of the wild-type NF1 allele, but the cell that originally suffers this mutation remains controversial. Several lines of evidence support the clonal origin of these tumors, and it has been recently suggested that skin-derived precursor cells (SKPs) could be the cell of origin of dermal neurofibromas.

Letter: Photodistributed reticulated hyperpigmentation related to diltiazem.

Diltiazem is a calcium channel blocking agent used for the treatment of hypertension. Cutaneous adverse effects are uncommon. The most frequently reported are itching, urticaria, and maculopapular eruption.

[Update of the topical treatment of psoriasis].

Topical therapy continues to be one of the pillars of psoriasis management. Topical corticosteroids and vitamin D analogs are the drugs of choice during the induction phase, and vitamin D analogs continue to be drugs of choice for maintenance therapy. Tazarotene and dithranol are suitable options in patients with certain, specific characteristics.

PTEN mutations in eight Spanish families and one Brazilian family with Cowden syndrome.

Cowden syndrome is an autosomal dominant genodermatosis, characterized by the presence of multiple hamartomas in the skin, breast, thyroid, gastrointestinal tract, central nervous system, and an increased risk in developing breast and thyroid carcinomas. Over 80 germline mutations of the tumor suppressor gene PTEN, on chromosome 10q23, have been reported in more than 100 unrelated patients and families; however, questions regarding distribution of the mutations in populations from different geographic areas, and phenotypic expression are still unclear. In this study the results are reported of mutation analysis of PTEN in 13 families from Spain and one family of Brazilian origin with Cowden syndrome.

[Lyell syndrome associated with lamotrigine].

Introduction: Lamotrigine (LTG) is a new antiepileptic of habitual use in monotherapy as much in partial epileptic as in generalised, which presents among other adverse effects: slight rashes and less frequently severe rashes such as Stevens-Johnson syndrome and Lyell syndrome or toxic epidermal necrolysis, above all in combination with valproate (VPA).

Clinical Case: A 44-yr-old woman in toxico-alcoholic epileptic treatment with VPA, showed a neutropenia possibly of secondary type which it was intended to change to LTG, following an ascending dose of LTG joined to a descending dose of VPA. In the sixth treatment week, the patient developed an erythematous rash which after a week of solar exposure, presented temperature, general discomfort, and in the head, on the front and back part of the thoracic and upper and lower limbs, erythematous lesions with scabbed areas, loosening epidermis areas with a positive Nikolsky sign and severe mucous membrane involvement, being diagnostic of Lyell syndrome.

Trichothiodystrophy associated with urologic malformation and primary hypercalciuria.

Trichothiodystrophy (TTD) is a hair abnormality that may be associated with a large number of alterations affecting the skin phenotype and skin appendages, nervous system, eyes, bones, and immune, gonadal, and endocrine systems. We report the first case of TTD associated with a urologic malformation and primary hypercalciuria. Our patient had congenital ichthyosis, physical and mental retardation, and a dysmorphic facies associated with a complex urologic malformation and primary hypercalciuria.

[Pulmonary Kaposi's sarcoma in a heterosexual parenteral drug addict patient with the acquired immunodeficiency syndrome].

A case of Kaposi syndrome is described in a 28-year-old heterosexual male with acquired immunodeficiency syndrome. The disease began clinically with pulmonary disease, without mucocutaneous lesions. This form of presentation is extremely infrequent and has not been described in non-homosexual subjects.

Eosinophilic histiocytosis. A subset of lymphomatoid papulosis.

A 43-year-old male with a 23-year history of small-plaque-type parapsoriasis developed a chronic recurrent self-healing papulonodular and tumoral cutaneous eruption. The microscopic findings were consistent with eosinophilic histiocytosis. Immunohistochemical and ultrastructural studies revealed a population of T lymphocytes, eosinophils and monocyte-macrophage cells in the dermal infiltrate.