Vismodegib in Gorlin-Goltz syndrome: A systematic review.

Treatment with Hedgehog Inhibitors in Gorlin-Goltz syndrome (GGS) yields favourable objective clinical responses, yet secondary resistance and class-related toxicity restrict treatment duration. This study aims to review current data on GGS patients undergoing vismodegib therapy, focusing on treatment duration, clinical outcomes and schedule modifications. A systematic search of the PubMed database was conducted for English articles from 1993 to 2023, identifying 31 papers suitable for inclusion.

Use of Picosecond Laser for Melasma Treatment: A Narrative Review.

Melasma results from the imbalance of the mechanisms that regulate skin pigmentation, causing the appearance of hyperpigmented patches. Treatment includes topical and oral agents, chemical peelings, microneedling, and laser therapy. The picosecond laser was developed to minimize pain and skin discoloration, which can sometimes be associated with laser treatments.

MEK inhibitor-induced paronychia in a paediatric population: A tertiary centre experience.

The cutaneous toxicity of MEK inhibitors may limit treatment adherence. The authors present a retrospective study of 41 paediatric patients with NF-1 undergoing therapy with selumetinib and propose a treatment algorithm.

Drug-induced accelerated nodulosis: review of the literature.

Accelerated nodulosis, the rapid progression/extension of preexisting nodules, is a recognized complication of immunomodulatory therapy, occurring mostly in patients with rheumatoid arthritis treated with methotrexate. As of today, its physiopathology remains incompletely understood, and there are no standardized guidelines regarding its management. Here, we conduct a literature review of the reported cases of drug-induced accelerated nodulosis and add our case of a 79-year-old female with an atypical clinical presentation.

Corrigendum: The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.

[This corrects the article on p. 432 in vol. 10, PMID: 31333583.

The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.

The deficiency of 21-hydroxylase due to pathogenic variants is a rather frequent disease with serious consequences, going from a real mortality risk to infertility and to milder symptoms, nevertheless important for affecting the patients' self-esteem. In the most severe cases life-threatening adrenal salt wasting crises may occur. Significant morbidity including the possibility of mistaken gender determination, precocious puberty, infertility and growth arrest with consequent short stature may also affect these patients.

Primary T-Cell Non-Hodgkin Lymphoma of the Vagina.

The primary vaginal T-cell non-Hodgkin lymphoma is a rare form of lymphoma. Most of the previously published cases were about B-cell non-Hodgkin lymphomas. We present the case of a vaginal mass in an 82-year-old patient presenting vaginal bleeding.

[Chronic medication in the perioperative period: usage profile and risk management].

Introduction: Currently, an increasing number of surgeries are performed in an older and higher risk population, due to the inherent comorbidity and polypharmacy associated with this population group. The characterization of drug usage profiles in the perioperative period is critically needed to understand the nature of adverse events and to achieve a more efficient iatrogenic risk management.

Methods: During 1 year, all adult patients (>18 years) consecutively admitted for elective surgery at "Cova da Beira" Hospital Center (CHCB) were included in the study.

Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene.

Erythropoietic protoporphyria (EPP) is a rare inherited disorder of heme biosynthesis mostly caused by a deficient activity of the enzyme ferrochelatase (FECH), and consequent accumulation of protoporphyrin (PP) in various tissues. Clinical manifestations include a childhood onset, cutaneous photosensitivity and, sometimes, hepatobiliary disease. We report a 16-year-old male with EPP characterized by acute episodes of painful photosensitivity since early infancy, permanent changes in the photoexposed skin, microcytic anemia, thrombocytopenia, and mild hepatic dysfunction.

Vascular Ehlers-Danlos syndrome: a case with fatal outcome.

A 13-year-old boy, born prematurely and hypotonic, from non-consanguineous healthy parents, was referred to our department because of easy bruising. A slightly extensible, thin and translucent skin, associated with dysmorphic facies, acrogeria, multiple ecchymoses, hypermobility of the small joints, dorsal kyphosis, genu valgum, flat feet, elongated upper limbs, and low muscle tone were all evident. A history of learning disability and bilateral inguinal hernia was present.