High BRAF V600 Mutation Level Associated with Worse Outcome in Metastatic Melanoma Patients Receiving BRAF and MEK Inhibitors.

The prognostic value of BRAF V600 mutation level on clinical outcomes in patients with BRAF V600-mutated metastatic melanoma treated with BRAF and MEK inhibitors remains uncertain. The association was retrospectively analysed between BRAF V600 mutation level (defined as the ratio of the quantification of the BRAF V600 allele to the percentage of tumoral cells in the sample analysed) and progression-free and overall survival (PFS and OS, respectively) and 3-month response rate in a cohort of 58 patients with metastatic melanoma who harboured BRAF V600E/K mutations and received dual targeted-therapy BRAF/MEK inhibitors. The BRAF mutation level cut-off determined by the area under the receiver operating characteristic curve after internal validation by bootstrap methods was 0.

Mitochondrial OPA1 Deficiency Is Associated to Reversible Defects in Spatial Memory Related to Adult Neurogenesis in Mice.

Mitochondria are integrative hubs central to cellular adaptive pathways. Such pathways are critical in highly differentiated postmitotic neurons, the plasticity of which sustains brain function. Consequently, defects in mitochondria and in their dynamics appear instrumental in neurodegenerative diseases and may also participate in cognitive impairments.

Anti-SAE autoantibody in dermatomyositis: original comparative study and review of the literature.

Objective: Among specific autoantibodies in DM, the anti-small ubiquitin-like modifier activating enzyme (SAE) antibody is rare. We aim to describe the clinical characteristics, cancer prevalence, and muscle pathology of anti-SAE-positive DM.

Methods: Patients with a diagnosis of DM and sera positive for the anti-SAE antibody were recruited from 19 centres in this retrospective observational study.

[The tube in tube thoracodorsal perforator flap phalloplasty].

This article deals with a clinical case of a tube in a tube TDAP phalloplasty in a 38 years old trans-man. While penis reconstruction surgery aroused an efflorescence of different operative techniques, the resulting female to male surgery sees these procedures boil down to two or three flaps. If we usually discuss before surgery about the way to lengthen the urinary tract, as the way to implant later for intercourse; the choice of the donor site remains too systematized.

Dermatoscopic and clinical features of congenital or congenital-type nail matrix nevi: A multicenter prospective cohort study by the International Dermoscopy Society.

Background: Congenital nail matrix nevi (NMN) are difficult to diagnose because they feature clinical characteristics suggestive of adult subungual melanoma. Nail matrix biopsy is difficult to perform, especially in children.

Objective: To describe the initial clinical and dermatoscopic features of NMN appearing at birth (congenital) or after birth but before the age of 5 years (congenital-type).

The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literature.

Background: Hair collar sign (HCS) and hair tuft of the scalp (HTS) are cutaneous signs of an underlying neuroectodermal defect, but most available data are based on case reports.

Objective: We sought to define the clinical spectrum of HCS and HTS, clarify the risk for underlying neurovascular anomalies, and provide imaging recommendations.

Methods: A 10-year multicenter retrospective and prospective analysis of clinical, radiologic, and histopathologic features of HCS and HTS in pediatric patients was performed.

[Type I interferonopathies].

Type I interferonopathies are a group of Mendelian disorders characterized by a common physiopathology: the up-regulation of type I interferons. To date, interferonopathies include Aicardi-Goutières syndrome, familial chilblain lupus, spondyenchondromatosis, PRoteasome-associated auto-inflammatory syndrome (PRAAS) and Singleton-Merten syndrome. These diseases present phenotypic overlap including cutaneous features like chilblain lupus, that can be inaugural or present within the first months of life.

[Massive localized lymphedema].

Background: Massive localized lymphedema (MLL) is a benign soft-tissue lesion that usually presents as a large and isolated mass in morbidly obese adults.

Patients And Methods: We report the case of a 39-year-old woman presenting obesity and multiple MLL. There was a large tumor in the left groin and two smaller lesions on the backs of the thighs.

[Multiple primary cutaneous plasmacytoma].

Background: Primary cutaneous plasmacytoma is a rare form of cutaneous B-cell lymphoma.

Patients And Methods: A 51 year-old male with an unremarkable history gradually presented erythematous papulonodular lesions that had appeared gradually over the whole body throughout a two-year period and showing histologic and immunohistochemical features of cutaneous plasmacytoma. Staging investigations confirmed the primary character of the disease, and because of this and the absence of functional impairment, we opted for therapeutic abstention.

Nevus anemicus in neurofibromatosis type 1: a potential new diagnostic criterion.

Background: Children with multiple café-au-lait macules (CALMs) may be followed for years before a second National Institutes of Health clinical criterion of neurofibromatosis type 1 (NF1) develops to confirm the diagnosis.

Objective: We sought to assess the prevalence of nevus anemicus (NA) in NF1 and its association with neuro-ophthalmologic complications.

Methods: This was a prospective multicenter case-control study of 210 consecutive patients with multiple CALMs.

[Multiple familial "eruptive" dermatofibromas].

Background: Multiple eruptive dermatofibromas (DF) are rare and frequently associated with immune and neoplastic diseases. There have also been reports of rare familial cases. Herein we report a new such case.

Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease.

Multiple cutaneous and uterine leiomyomatosis (MCUL)/hereditary leiomyomatosis and renal cell cancer (HLRCC) (OMIM 150800/OMIM 605839) is a rare hereditary disorder leading to the development of benign cutaneous and uterine smooth muscle tumours in young adults.(1,2) This disease is characterized by an increased risk of developing renal cell carcinomas.(3) It results from dominantly inherited autosomal mutations in the fumarate hydratase (FH) gene.

Lipoatrophic connective tissue panniculitis.

Many causes of what was formerly called Weber-Christian and Rothmann-Makai diseases are being clarified as specific forms of panniculitis. Among them, an autoimmune process involving the subcutaneous fat without criteria for another defined disorder coined "connective tissue panniculitis" by Winckelman et al in 1980 has been described. We describe this disease in a 4-year-old boy who presented with multiple subcutaneous inflammatory nodules that extended in an annular fashion, resolved leaving lipoatrophy, with recurrence 8 years later.

Medallion-like dermal dendrocyte hamartoma: the main diagnostic pitfall is congenital atrophic dermatofibrosarcoma.

Medallion-like dermal dendrocyte hamartoma is a newly described and rare clinical and pathological entity. This congenital, round, erythematous and atrophic lesion in the thoracic area is histologically characterized by a CD34+ dermal and hypodermal spindle-cell infiltration. We describe the clinical, histopathological, cytological and molecular features of three cases of dermal dendrocyte hamartoma.

[Congenital melanotic macules of the tongue].

Background: Congenital oral and labial melanotic macules are the leading causes of hyperpigmented lesions of the oral mucosa in adults. Although they usually appear in the second decade of life, there are rare reports of these phenomena in children. Congenital lingual melanotic macules have been recently identified as a peculiar and benign cause of hyperpigmentation of the tongue in newborn babies and infants.

Superficial lymphangitis after arthropod bite: a distinctive but underrecognized entity?

Background: Acute bacterial lymphangitis is a common occurrence after skin damage. This diagnosis is often made in case of red linear streaks after arthropod bites, leading to the prescription of oral antibiotics. In this setting, noninfectious superficial lymphangitis after arthropod bites, an eruption rarely mentioned in the medical literature, appears as a diagnostic challenge.

[Premature aging syndromes : From phenotype to gene].

Syndromes involving premature skin aging provide outstanding models for a better understanding of both skin senescence and of the aging process in general. Although initially merely descriptive, these rare or indeed very rare conditions have been studied in detail and their genetic and biochemical background has been elucidated. The new data are now sufficiently accurate to allow the development of a new classification based on the underlying biochemical pathomechanisms.