Biological hallmarks of systemic sclerosis are present in the skin and serum of patients with Very Early Diagnosis of SSc (VEDOSS).

Objective: The Very Early Diagnosis of Systemic Sclerosis (VEDOSS) EUSTAR study showed that, despite not showing any clinical sign of disease, patients with Raynaud's and antinuclear antibodies and/or capillaroscopy abnormalities often progress to systemic sclerosis (SSc) within 5 years. We aimed to determine whether VEDOSS biosamples show biological SSc activity pre-clinically.

Methods: Skin biopsies were histologically analysed.

A population-based analysis of germline BAP1 mutations in melanoma.

Germline mutation of the BRCA1 associated protein-1 (BAP1) gene has been linked to uveal melanoma, mesothelioma, meningioma, renal cell carcinoma and basal cell carcinoma. Germline variants have also been found in familial cutaneous melanoma pedigrees, but their contribution to sporadic melanoma has not been fully assessed. We sequenced BAP1 in 1,977 melanoma cases and 754 controls and used deubiquitinase assays, a pedigree analysis, and a histopathological review to assess the consequences of the mutations found.

Using the CES-D with custodial grandmothers: cross-validation and convergent validity.

Objective: This study is the first to analyze the factor structure of the Center for Epistemological Studies Depression (CES-D) Scale with custodial grandmothers involving both cross validation and convergent validity analyses.

Method: Cross validation was accomplished with two different samples of custodial grandmothers (GCM) to calibrate (=733; Average Age=52) and then validate (=343; Average Age=52.5) the model.

Breast Neoplasms with Dermal Analogue Differentiation (Mammary Cylindroma): Report of 3 Cases and a Proposal for a New Terminology.

Salivary gland-like and dermal analogue tumours of the breast are rare lesions that can be diagnostically challenging for pathologists. Data on the clinical behaviour and molecular characterisation of these mammary tumours are limited and their designation is mainly based on similar salivary gland or skin lesions. In this study, we present three cylindromatous breast tumours.

Facial paediatric desmoid fibromatosis: a case series, literature review and management algorithm.

Desmoid fibromatosis (also known as infantile or aggressive fibromatosis) is a rare soft tissue tumour that is occasionally seen in children. Although histologically benign, its growth pattern is highly aggressive often showing invasion of surrounding musculature and bone. Frequently found in cosmetically sensitive areas, complete excision can present a challenging problem.