Does the gene matter? Genotype-phenotype and genotype-outcome associations in congenital melanocytic naevi.

Background: Genotype-phenotype studies can identify subgroups of patients with specific clinical features or differing outcomes, which can help shape management.

Objectives: To characterize the frequency of different causative genotypes in congenital melanocytic naevi (CMN), and to investigate genotype-phenotype and genotype-outcome associations.

Methods: We conducted a large cohort study in which we undertook MC1R genotyping from blood, and high-sensitivity genotyping of NRAS and BRAF hotspots in 156 naevus biopsies from 134 patients with CMN [male 40%; multiple CMN 76%; projected adult size (PAS) > 20 cm, 59%].

The Role of Topical Timolol in the Treatment of Infantile Hemangiomas: A Systematic Review and Meta-analysis.

To date the efficacy and safety of topical timolol in the treatment of infantile hemangioma has not been reviewed and analysed systematically. We collated all published data on the efficacy and safety of topical timolol in the treatment of infantile hemangioma. A total of 31 studies with 691 patients were included.

Propranolol in the treatment of infantile haemangiomas: lessons from the European Propranolol In the Treatment of Complicated Haemangiomas (PITCH) Taskforce survey.

Background: Oral propranolol is widely prescribed as first-line treatment for infantile haemangiomas (IHs). Anecdotally, prescribing practice differs widely between centres.

Objectives: The Propranolol In the Treatment of Complicated Haemangiomas (PITCH) Taskforce was founded to establish patterns of use of propranolol in IHs.

Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome.

Background: Schöpf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive form of ectodermal dysplasia resulting from mutations in WNT10A.

Objectives: To document the spectrum of clinical features and search for pathogenic mutations in seven unrelated cases of SSPS.

Methods: Clinical examination of patients and Sanger sequencing of genomic DNA spanning the coding exons and flanking spice sites of WNT10A.

A cutaneous lymphoma international prognostic index (CLIPi) for mycosis fungoides and Sezary syndrome.

Background: There is no prognostic index for primary cutaneous T-cell lymphomas such as mycosis fungoides (MF) and Sezary syndrome (SS).

Method: Two prognostic indices were developed for early (IA-IIA) and late stage (IIB-IVB) disease based on multivariate data from 1502 patients. End-points included overall survival (OS) and progression free survival (PFS).

MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans.

Keratosis follicularis spinulosa decalvans (KFSD; OMIM 308800) is an X-linked disorder characterized by widespread hyperkeratotic follicular papules (including keratosis pilaris-like lesions), facial erythema, hypotrichosis and scarring alopecia. KFSD results from mutations in the MBTPS2 gene. Mutations in this gene also underlie ichthyosis follicularis, alopecia and photophobia syndrome.

Eczema and cancer risk: a critical appraisal and review of the literature.

Aim: Hwang et al. aimed to evaluate the risk of malignancy among individuals with eczema, allergic rhinitis (AR) and asthma, compared with the general Taiwanese population.

Hypothesis: People with atopic conditions, including eczema, have an altered risk of malignancy.

Survival outcomes and prognostic factors in mycosis fungoides/Sézary syndrome: validation of the revised International Society for Cutaneous Lymphomas/European Organisation for Research and Treatment of Cancer staging proposal.

Purpose: We have analyzed the outcome of mycosis fungoides (MF) and Sézary syndrome (SS) patients using the recent International Society for Cutaneous Lymphomas (ISCL)/European Organisation for Research and Treatment of Cancer (EORTC) revised staging proposal.

Patients And Methods: Overall survival (OS), disease-specific survival (DSS), and risk of disease progression (RDP) were calculated for a cohort of 1,502 patients using univariate and multivariate models.

Results: The mean age at diagnosis was 54 years, and 71% of patients presented with early-stage disease.

Management of symptomatic esophageal involvement with lichen planus.

Aim: To describe the clinical features and treatment schedules of a series of 5 patients with esophageal lichen planus (LP). To review the literature on esophageal LP.

Background: LP, a common papulosquamous dermatologic condition, can present to the gastroenterologist with esophageal involvement.