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Background: The number of people with intellectual disabilities and associated mental illness has increased considerably in recent years. This population presents greater obstacles than their peers without mental health problems in accessing education, leisure, and health services. This, conditions their quality of life (QoL) and makes them one of the most vulnerable groups in society. Methods: This study seeks to know the level of QoL of 181 people with intellectual disabilities and mental health problems between the ages of 35 and 75, based on the perceptions of the professionals who work with them in different disability care services in Chile. The data were collected with the FUMAT scale. Findings: The dimensions of self‐determination and personal development obtained the lowest scores. In addition, living in rural settings, receiving regular support, or being a man was associated with a better QoL. Conclusions: It would be desirable to increase the frequency with which certain supports aimed at the population with intellectual disabilities and mental health problems are provided. Likewise, the exercise of informed and meaningful choices must be encouraged. Accessible summary: The number of people with intellectual disabilities who also have mental health problems has increased in the last years. There is little information about what people need to improve their lives.We asked what the quality of life of this population is like and what professionals who know them say can influence people's general well‐being.We need to strengthen things like self‐determination and personal development because they are very important to have a good quality of life.Living in rural settings, receiving regular support, or being a man was associated with a better quality of life. However, factors such as age or the type of associated mental health problem do not affect quality of life. [ABSTRACT FROM AUTHOR]

This article discusses the successful treatment of epidermal nevus (EN) in a patient with phacomatosis spilosebacea (PSS) using topical sirolimus. EN is a type of birthmark, while PSS is a rare disorder characterized by the presence of EN along with other organ system involvement. Treatment of EN can be challenging, but topical sirolimus has shown promising results in managing difficult-to-treat dermatological disorders. In this case, a patient with PSS experienced a marked decrease in thickness of the EN lesions after 5 weeks of treatment with topical sirolimus, with no adverse effects reported. Further follow-up is needed to confirm the long-term improvement. [Extracted from the article]

The appearance of morphea after vaccination has been reported to date as single and deep lesions that appear exactly at the site of the skin puncture. It was therefore postulated that the origin could be the trauma related to the injection. The aim of this article is to review the various hypotheses offered in the published literature about generalized morphea following vaccination. We present two cases of generalized morphea after COVID‐19 vaccination and review the published literature on immune‐related cutaneous reactions. As previously reported, antigenic cross‐reactivity between vaccine spike proteins and human tissues could cause certain immune‐mediated diseases, including generalized morphea. Herein we report two cases of generalized morphea probably induced by the COVID‐19 vaccine, given the temporal relationship with its administration. In summary, environmental factors such as vaccination against SARS‐COV‐2 could induce an immune system dysregulation, which would have an important role in the pathogenesis of morphea. We present two cases of generalized morphea probably induced by the COVID‐19 vaccine, given the time elapsed between vaccination and the onset of the skin lesions. [ABSTRACT FROM AUTHOR]

Colony‐stimulating factor 1 receptor (CSF1R) inhibitors represent a new class of immune‐modulatory drugs, mostly investigated in clinical trials in different malignant neoplasms. Four patients, diagnosed with recurrent or advanced malignant neoplasm and treated with a combination of anti‐programmed death ligand 1 and anti‐CSF1R monoclonal antibodies, developed an asymptomatic cutaneous eruption characterized by an ill‐defined pseudoedematous to waxy diffuse infiltration with a reticular cobblestone‐like pattern. Histopathological examination revealed diffuse mucin deposition involving the superficial and mid‐dermis with fragmented and scattered elastic fibers. The exact pathogenic mechanisms implicated in the development of mucin deposits in patients treated with CSF1R inhibitors remain to be elucidated. A reduced degradation and clearance of components of the extracellular matrix by macrophages secondary to CSF1 pathway inhibition may be hypothesized. Shredding and fragmentation of elastic fibers may be a result of the increased accumulation of mucopolysaccharides. This observation illustrates the new spectrum of skin‐related toxicities secondary to new targeting therapies. This may contribute to a better understanding of the underlying pathogenic mechanisms in skin diseases characterized by a persistent dermal glycosaminoglycan deposition. [ABSTRACT FROM AUTHOR]

Objective: To determine the prevalence of pulmonary arterial hypertension in asymptomatic patients with 2 types of extensive slow-flow vascular malformations: extensive venous malformations or Klippel-Trénaunay syndrome (KTS). Design: Case-control. Setting: Multidisciplinary center for vascular anomalies. Patients: A consecutive sample of 32 patients with slow flow vascular malformations of at least 15% of the body surface was identified retrospectively and matched by age and sex with 32 healthy controls. Interventions: Standard 2-dimensional transthoracic Doppler echocardiography. Venous samples were obtained the same day that echocardiography was performed. Main Outcome Measures: Pulmonary artery systolic pressure (PASP) was determined. Levels of Ddimer, fibrinogen, and von Willebrand factor (vWF) in plasma were measured. Results: Patients had a mean (SD) PASP that was significantly higher than that of healthy controls (42.16 [8.49] mm Hg in patients vs 27.69 [6.54] mm Hg in healthy controls; P<.001). No significant differences in PASP were found between patients with KTS and patients with venous malformations (P=.80). We observed significant differences in the mean (SD) levels of vWF between patients and healthy controls (124.41% [52.28%] in patients vs 92.69% [28.92%] in controls; P=.01) and also in levels of D-dimer (1032.99 [1367.0] ng/mL in patients vs 102.97 [29.39] ng/mL in healthy controls; P<.001). There was a moderate positive correlation between levels of vWF and levels of PASP (r=0.42; P=.001) and a high positive correlation between Ddimer and PASP (r=0.52; P<.001) Conclusions: The presence of pulmonary arterial hypertension in patients with extensive slow-flow vascular malformations is not an isolated feature but is relatively frequent. Levels of D-dimer correlate with PASP in these patients [ABSTRACT FROM AUTHOR]

Partial unilateral lentiginosis (PUL) is a rare pigmentary disorder characterized by multiple lentigines grouped within an area of normal skin, often in a segmental pattern and appearing at birth or in childhood. There is no established standard treatment for this condition. We present two cases of PUL succesfully treated with alexandrite Q-switched laser. In our cases, this laser proved to be a safe and effective treatment for cosmetically disfiguring lentigines. Special precautions are needed when treating dark-skinned patients because side effects are more likely. We propose that this modality be considered in the treatment of this rare disorder. [ABSTRACT FROM AUTHOR]

Pachyonychia congenita is a rare, autosomal dominant genetic disease characterized by painful palmoplantar keratoderma and hypertrophic nail dystrophy. This disorder is caused by mutations in any one of five cytoskeletal keratin proteins, K6a, K6b, K6c, K16 and K17. Here, we describe a new p.Leu421Pro (c.1262T>C) mutation in the highly conserved helix termination motif of K16 in a large Spanish family. Bioinformatic analyses as well as previous descriptions in the literature of homologous mutations in other keratin-coding genes show that this mutation is probably causative of the disease. [ABSTRACT FROM AUTHOR]