Telangiectasia macularis eruptiva perstans (TMEP): A form of cutaneous mastocytosis with potential systemic involvement.

Background: Telangiectasia macularis eruptiva perstans (TMEP) has not been fully characterized.

Objective: We sought to estimate the frequency and clinical characteristics of TMEP in a cohort of adult patients with cutaneous mastocytosis, and to assess the presence of systemic involvement.

Methods: We included all consecutive patients evaluated for cutaneous mastocytosis in 2 centers: the Mastocytosis Competence Center of the Midi-Pyrénées from May 2006 to December 2013, and the French Reference Center for Mastocytosis from January 2008 to September 2013.

Masitinib for the treatment of systemic and cutaneous mastocytosis with handicap: a phase 2a study.

Treatment options for patients suffering from indolent forms of mastocytosis remain inadequate with the hyperactivation of mast cells responsible for many of the disease's systemic manifestations. Masitinib is a potent and highly selective oral tyrosine kinase inhibitor. A combined inhibition of c-Kit and Lyn make it particularly efficient in controlling the activity of mast cells and therefore, of potential therapeutic benefit in mastocytosis.

Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.

Adult mastocytosis is an incurable clonal disease associated with c-KIT mutations, mostly in exon 17 (D816V). In contrast, pediatric mastocytosis often spontaneously regresses and is considered a reactive disease. Previous studies on childhood mastocytosis assessed only a few patients and focused primarily on codon 816 mutations, with various results.

Case-control cohort study of patients' perceptions of disability in mastocytosis.

Background: Indolent forms of mastocytosis account for more than 90% of all cases, but the types and type and severity of symptoms and their impact on the quality of life have not been well studied. We therefore performed a case-control cohort study to examine self-reported disability and impact of symptoms on the quality of life in patients with mastocytosis.

Methodology/principal Findings: In 2004, 363 mastocytosis patients and 90 controls in France were asked to rate to their overall disability (OPA score) and the severity of 38 individual symptoms.

[Atypical manifestations in familial type 1 Waardenburg syndrome].

Background: Waardenburg syndrome is an uncommon genetic disorder. Four clinical types are recognized. Three responsible genes have been identified (PAX 3: for type I syndrome, MITF and EDN3 for types II and IV respectively).

Acquired localized elastolysis associated with varicose veins.

Localized elastolysis refers to a group of heterogeneous conditions which includes cutis laxa. We report a form of localized and non-inflammatory elastolysis evocative of cutis laxa, localized to the anteromedial aspect of the left thigh and knee, acquired at the age of 8 years and associated with unilateral adjacent venous dilatations appearing at the age of 39 years. Our case is clinically and ultrastructurally compatible with cutis laxa.

Shave excision and phenol peeling of generalized verrucous epidermal nevus.

Background: Generalized verrucous epidermal nevus is a disorder characterized by papulokeratotic and verrucous plaques involving a large area of the skin. This disease has been associated with a number of malformations including osseous, neurological, and ophthalmologic anomalies.

Objective: To report clinical and histologic features of verrucous epidermal nevus that developed in association with osseous anomalies, and the surgical technique employed.

[Oculo-cutaneous tyrosinase-positive albinism].

In the present work, the authors discuss the participation of prostaglandins in inflammatory reaction due to U. V. light and the consequences of prostaglandins deficiency.

Comparative study of terfenadine in allergic skin of patients in France.

The results of a double-blind comparative study of a new antihistamine, alpha-[4-(1,1-dimethylethyl)phenyl]-4-(hydroxydiphenylmethyl)-1- piperidinebutanol (terfenadine, RMI 9918, Triludan, Teldane, resp.), are presented. Carried out on a total of 136 patients, this multicentre investigation had three main objectives: Firstly to evaluate the efficacy of terfenadine in skin allergies; secondly to evaluate its tolerance; and finally, to compare its activity with the activity of clemastine or with placebo.