Evaluation of Hedgehog Pathway Inhibition on Nevoid Basal Cell Carcinoma Syndrome Fibroblasts and Basal Cell Carcinoma-Associated Fibroblasts: Are Vismodegib and Sonidegib Useful to Target Cancer-Prone Fibroblasts?

Activating mutations in the Hh pathway underlies the development of sporadic and familial skin BCC. For these oncogenic proliferations displaying ligand-independent activation of the intracellular pathway, two molecules have been approved for therapeutic purposes: vismodegib and sonidegib. Improper Hh signalling occurs in many human tumours also via a paracrine mechanism (ligand-dependent) in which the secretion of Hh ligands by stromal cells support tumour growth.

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.

Background: Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by severe life-long photosensitivity and liver involvement.

Objective: To provide epidemiological data of EPP in Italy.

Materials & Methods: Prospective/retrospective data of EPP patients were collected by an Italian network of porphyria specialist centres (Gruppo Italiano Porfiria, GrIP) over a 20-year period (1996-2017).

Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.

Purpose: Acute porphyrias are metabolic disorders of heme biosynthesis characterized by acute life-threatening attacks. The diagnosis is often missed since clinical presentation is aspecific mimicking other medical and surgical conditions. Variegate porphyria (VP) is an autosomal dominant inherited disease with incomplete penetrance due to decreased activity of the Protoporphyrinogen Oxydase (PPOX) gene; most VP mutations are family specific.

Phototherapy for vitiligo, what's new?

Vitiligo is a disorder characterized by the development of depigmented macules and patches. Existing treatments include topical and systemic immunosuppressants, topical vitamin D analogues in monotherapy or in association with phototherapy, phototherapy and surgical techniques, which together may serve to halt disease progression, stabilize depigmented lesions, and encourage repigmentation. Narrow-band UVB (NB-UVB 310-315 nm) radiation is now considered as the "gold standard" for the treatment of diffuse vitiligo.

Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity.

Patients with erythropoietic protoporphyria (EPP) have reduced activity of the enzyme ferrochelatase that catalyzes the insertion of iron into protoporphyrin IX (PPIX) to form heme. As the result of ferrochelatase deficiency, PPIX accumulates and causes severe photosensitivity. Among different patients, the concentration of PPIX varies considerably.