Palbociclib-Induced Vitiligo-Like Lesions: A Report of a Challenging Case.

Cyclin-dependent kinase (CDK) 4 and 6 inhibitors, such as palbociclib, have emerged as essential in managing hormone receptor-positive (HR+), human epidermal growth factor receptor 2-negative (HER2-) advanced or metastatic breast cancer. While effective, these inhibitors can cause rare dermatologic side effects, including vitiligo-like depigmentation. We report a rare case of a 52-year-old female with HR+, HER2- metastatic breast cancer who developed vitiligo-like depigmentation following palbociclib treatment. The patient presented with asymptomatic depigmented lesions on the lower limbs and abdomen, appearing seven months after starting palbociclib. Examination and investigations confirmed the diagnosis after excluding other potential causes. Despite treatment with topical steroids and calcineurin inhibitors, there was no significant improvement, highlighting the need for more research into effective management strategies for drug-induced vitiligo. This case emphasizes the importance of recognizing rare dermatologic side effects of CDK4/6 inhibitors like palbociclib. Ongoing vigilance, reporting, and research are necessary to improve understanding and management of these side effects, ultimately enhancing patient care in oncology.

Thoracocervicofacial Purpura as a Presenting Symptom of Seizure Disorder: A Case Report.

Introduction: Postictal thoracocervicofacial purpura (PTP) is a rare clinical sign after a seizure episode and may be the only objective sign seen in patients who are unaware of their own seizure disorder. Moreover, it can be the only reason a patient seeks medical care after a seizure activity. Case Presentation: Herein, we report a 23-year-old, living alone and not known to have any medical illnesses, who presented to our emergency department complaining of asymptomatic purpuric facial rash extending to his neck and upper chest that started suddenly when he woke up that morning. Tongue and distal lateral thigh erosions were also noticed during physical examination, as well as conjunctival hemorrhage. In addition, the patient stated that he experienced similar prior episode of purpuric rash over the face, and disappeared uneventfully within 2 weeks. Blood work was remarkable for elevated urine creatinine (21,692 mg/L) and creatine kinase (1,207 mg/L). Given his clinical features and initial laboratory results, a diagnosis of PTP was made. Conclusion: Patients who present with petechial rash over the chest, neck, malar area along with conjunctival hemorrhage as an only complaint should be suspected to have or evaluated for seizure disorder.

A Diagnostically Challenging Case of De Novo Febrile Ulceronecrotic Mucha-Habermann Disease with Fatal Pulmonary Involvement: A Case Report.

The febrile ulceronecrotic Mucha-Habermann disease is a rare and potentially lethal variant of pityriasis lichenoides et varioliformis acuta (PLEVA). It is characterized by a sudden onset of ulceronecrotic skin lesions associated with high fever and systemic symptoms. Herein, we report a 23-year-old male, not known to have any medical illnesses, presented with a month-long history of persistent fever of unknown origin associated with a sudden onset of progressive diffuse necrotic ulcers and widespread papulosquamous lesions. Pan CT showed enlarged lymph nodes in the cervix, chest, and abdomen. Unfortunately, a skin biopsy was done late, showing features consistent with PLEVA. Few days after admission, despite being on intravenous methylprednisolone, our patient rapidly deteriorated by showing severe acute respiratory symptoms and consequently died. In spite of the continuous addition of new case reports to the literature, no definite diagnostic criteria have been established, leading to late or missed cases, and an optimum treatment is still waiting.

A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9.

Alzheimer's disease (AD) is the most common cause of dementia with around 50 million people suffering from this disease worldwide. Mutations in the ATP-binding cassette sub-family A member 7 (ABCA7) have been reported to cause susceptibility to AD 9 (OMIM #608907). In this study, we report a novel variant in ABCA7 in a Saudi patient with susceptibility to AD 9 and a strong family history of neurodegenerative disorders, which may be explained by the same variant. We studied a single 57-year-old female patient with typical symptoms of AD supported by MRI findings from a Saudi family with a positive history of a similar disease in multiple individuals. The case study was conducted in King Abdulaziz Medical City in Jeddah, Saudi Arabia. Whole-exome sequencing identified the novel heterozygous variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene, which leads to an amino acid exchange. Furthermore, bioinformatics in silico programs predict a pathogenic effect for this variant. To the best of our knowledge, the variant has not been described in the literature so far as evidenced by a thorough literature review using multiple databases such as Ovid, Medline, EMBASE, ProQuest, Science Direct, Google Scholar, and PubMed. In this article, we reported a middle-aged Saudi woman with a novel variant in ABCA7 who had clinical features of both AD and Parkinson's disease. Given the reported function of this gene, it is most likely that it is etiological and pathological because of the presenting complex neurological disease due to decreased clearance of ß-amyloid and α-Synuclein. We illustrate the importance of this interesting gene that could be implicated in several neurodegenerative disorders.

The Prevalence of Growth Variations Among Pediatric Celiac Disease Patients at the Time of Diagnosis.

Background and aim Celiac disease is an immune-mediated disorder caused by sensitivity to dietary gluten. Celiac patients typically present with malabsorption and low growth parameters; however, studies have shown that the presentation of celiac disease can have a higher percentage of patients with normal or high growth parameters and no signs of malabsorption. The study aims to estimate the prevalence of the growth variation found in children with biopsy-confirmed celiac disease at the time of diagnosis. Methods We included 31 biopsy-confirmed pediatric celiac patients diagnosed from 2007 to 2018 in King Abdulaziz Medical City, Jeddah, Saudi Arabia. Patients' height, weight, and BMI at the time of diagnosis were converted to z-scores and growth percentiles according to the Centers for Disease Control and Prevention growth charts. In addition, patients' comorbid conditions were also recorded. Results At the time of diagnosis, 45.16% of our patients presented as underweight, 41.94% of patients had normal weight, 6.5% were overweight and obese, respectively. The mean BMI was 15.44 (±3.65). Our population had a statistically significant lower BMI, height, and weight mean z-scores at the time of diagnosis.  Conclusion A significant number of children diagnosed with celiac disease in our center had low weight, height, and BMI at the time of diagnosis. However, we emphasize that having normal growth parameters does not rule out the diagnosis of celiac disease.