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Neurosciences (Riyadh, Saudi Arabia) May 2024To determine the prevalence of tuberous sclerosis complex (TSC) in the paediatric Saudi population and to characterise the range of clinical symptoms, neurocutaneous...
OBJECTIVES
To determine the prevalence of tuberous sclerosis complex (TSC) in the paediatric Saudi population and to characterise the range of clinical symptoms, neurocutaneous findings, neuroimaging results, and complications of the disease.
METHODS
A total of 61 genetically confirmed TSC patients from the National Guard Health Affairs (NGHA) in Saudi Arabia were the subject of this retrospective descriptive analysis. The data were presented using descriptive measures.
RESULTS
The mean age at diagnosis was found to be 4.9 years. Subependymal nodules (86.9%), numerous cortical tubers and/or radial migration lines (63.9%), and hypomelanotic macules (63.9%) were the 3 most common significant criteria. The vast majority (86.9%) of those diagnosed had epilepsy, of which 50% were considered medically intractable. Nearly half of our subjects underwent genetic testing, which revealed that TSC2 predominated over TSC1. Symptoms of Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) were present in 66.7% of TSC1 patients and 73.9% of TSC2 patients.
CONCLUSION
The findings of this study demonstrate that the clinical spectrum of TSC among Saudi children is consistent with the body of existing literature. The TSC2 was more prevalent than TSC1. The most frequent signs were cutaneous and neurological. Monitoring TSC patients regularly is crucial to identify any issues as soon as possible.
Topics: Humans; Tuberous Sclerosis; Saudi Arabia; Female; Male; Child, Preschool; Child; Tuberous Sclerosis Complex 2 Protein; Retrospective Studies; Infant; Adolescent; Tuberous Sclerosis Complex 1 Protein; Tumor Suppressor Proteins; Epilepsy; Prevalence
PubMed: 38740395
DOI: 10.17712/nsj.2024.2.20230061 -
American Journal of Medical Genetics.... May 2024Filippi syndrome is a rare genetic disorder characterized by growth and neurodevelopmental delays, dysmorphism, and selective limb abnormalities. Although the syndrome...
Filippi syndrome is a rare genetic disorder characterized by growth and neurodevelopmental delays, dysmorphism, and selective limb abnormalities. Although the syndrome was described approximately four decades ago, only a few families with molecularly confirmed diagnoses have been reported. In this article, we present three new patients of Filippi syndrome with unusual clinical and genetic aspects. These patients exhibited novel clinical features that have not previously been associated with Filippi syndrome, including renal hypoplasia/aplasia, renal cysts, renal cortical thinning, hypomelanotic, and hypermelanotic macules. All three patients had homozygous frameshift variants of the CKAP2L gene, specifically NM_152515.3: c.554_555del, c.981_982del, and c.1463_1467del, with the second being a novel variant. Given the limited number of reported Filippi syndrome patients to date and the ongoing discovery of new clinical aspects of the disease, exploring its potential connection with kidney and skin pigmentation abnormalities could be valuable for future research.
PubMed: 38738944
DOI: 10.1002/ajmg.a.63654 -
The Journal of Medical Investigation :... 2024Vitiligo is an acquired chronic depigmenting disorder of the skin and is characterized by the destruction of melanocytes. One of the clinical features of vitiligo is...
Vitiligo is an acquired chronic depigmenting disorder of the skin and is characterized by the destruction of melanocytes. One of the clinical features of vitiligo is that damage to normal skin frequently results in the formation of depigmented macules, which is known as Köebner's phenomenon (KP). Here, we presented a case of vitiligo, in which depigmented macules followed the course of a dilated varicose vein. Dilatation of blood vessels was considered to contribute to the development of the vitiliginous lesions as a trigger for KP. Any kind of skin injury can trigger KP, but this is only the second case in which a dilated blood vessel caused KP in vitiligo. J. Med. Invest. 71 : 177-178, February, 2024.
Topics: Humans; Vitiligo; Varicose Veins; Leg; Male; Female; Adult
PubMed: 38735717
DOI: 10.2152/jmi.71.177 -
International Journal of Biological... Jun 2024Melasma is an acquired hypermelanotic condition characterized by the presence of irregular light-to-dark brown macules that primarily manifest on the sun-exposed areas...
Melasma is an acquired hypermelanotic condition characterized by the presence of irregular light-to-dark brown macules that primarily manifest on the sun-exposed areas of the skin, particularly the face. The management of melasma poses significant challenges, as it is often recalcitrant to treatment and tends to recur despite successful treatment. In this study, we explored a safe, easy, and effective melasma treatment strategy. A hyaluronic acid (HA)-based microneedle (MN) patch loaded with tranexamic acid (TXA) was designed to deliver the necessary medication for melasma treatment. The MN patch features uniform needles with adequate mechanical strength and effective penetration and solubility in the skin without cytotoxicity. Remarkably, these MNs substantially reduce the thickness of the epidermis of melasma mice, curtail melanin production, and diminish dopachrome tautomerase (DCT) expression.
Topics: Hyaluronic Acid; Melanosis; Tranexamic Acid; Animals; Mice; Needles; Melanins; Solubility; Transdermal Patch; Female; Disease Models, Animal; Intramolecular Oxidoreductases
PubMed: 38729504
DOI: 10.1016/j.ijbiomac.2024.132255 -
Archives of Dermatological Research May 2024Xanthelasma palpebrarum (XP) is the predominant form of cutaneous xanthoma, as it accounts for greater than 95% of cases. It is characterized by the presence of foam... (Review)
Review
Xanthelasma palpebrarum (XP) is the predominant form of cutaneous xanthoma, as it accounts for greater than 95% of cases. It is characterized by the presence of foam cell clusters containing a large amount of low-density lipoprotein (LDL), which are located in the connective tissue of skin, tendons, and fascia. XP lesions commonly present as distinctive yellow-orange macules, papules, or nodules, and are primarily on the upper eyelids as well as the inner canthus. Women are affected twice as often as men, with lesions typically emerging between the ages of 35 and 55. The pathophysiology of XP involves abnormal lipid metabolism and is often associated with hyperlipidemic states like Type II and IV hyperlipidemia, hypothyroidism, weight gain, and fatty diet. Despite the availability of various treatment methods, current XP management lacks standardization, particularly due to limited comparative research. To address this gap, we conducted an extensive literature review of 45 studies published between 2012 to 2023, which provides an updated overview of current XP treatment modalities. This comprehensive analysis will inform researchers and clinicians on the evolving landscape of XP management.
Topics: Humans; Xanthomatosis; Eyelid Diseases; Female; Eyelids; Male; Adult
PubMed: 38724802
DOI: 10.1007/s00403-024-02863-y -
The American Journal of Dermatopathology May 2024Cutaneous perivascular hemophagocytosis (CH) is a histological manifestation that manifests as systemic hemophagocytic syndrome, also known as hemophagocytic...
Cutaneous perivascular hemophagocytosis (CH) is a histological manifestation that manifests as systemic hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis, when accompanied by fever, hepatosplenomegaly, liver dysfunction, and cytopenia, and may rarely manifest independently of hemophagocytic lymphohistiocytosis. CH typically presents as purpuric or brownish macules and patches on the extremities, abdomen, and trunks. Histopathologically, the hallmark of CH includes extravasated erythrocytes and karyorrhectic debris phagocytized by histiocytes, associated with dermal capillary ectasia, perivascular infiltration of neutrophils, nuclear dust, and histiocytes without atypia. In this study, we report 2 cases of CH encountered in routine diagnostic practice and elucidate their significant clinical and histologic features. Our first patient had leukocytoclastic vasculitis with CH in the setting of Yersinia enterocolitis, and the second case represents CH in association with non-Hodgkin lymphoma. This study highlights the importance of considering CH as a potential indicator of underlying systemic pathology, including infectious and hematological disorders, in clinical practice.
PubMed: 38718174
DOI: 10.1097/DAD.0000000000002732 -
The Egyptian Heart Journal : (EHJ) :... May 2024HACEK endocarditis is usually insidious and can often be difficult to diagnose due to the slow-growing nature of the organisms. This report presents our experience in...
BACKGROUND
HACEK endocarditis is usually insidious and can often be difficult to diagnose due to the slow-growing nature of the organisms. This report presents our experience in treating a patient with Haemophilus parainfluenzae endocarditis.
CASE PRESENTATION
We describe the case of a previously fit and well 23 year-old woman who presented to her local emergency department with a four-week history of persistent febrile illness. She had associated nausea, vomiting, and lethargy. This was preceded by an episode of mucopurulent rhinorrhoea. She was treated empirically with oral amoxicillin for a putative diagnosis of rhinosinusitis. Initially, her symptoms abated, however, she was readmitted with high fevers and a new pansystolic murmur. Transthoracic echocardiography revealed a large, mobile, echogenic mass, tethered to the posterior mitral valve leaflet (PMVL) and mild mitral regurgitation (MR). On examination, she had multiple non-tender, erythematous macules on the plantar surface of her feet, consistent with Janeway lesions. Two separate blood cultures grew H. parainfluenzae. Infectious diseases recommended a four-week course of intravenous ceftriaxone. Transesophageal echocardiography demonstrated a perforation within the P3 segment of the PMVL. Subsequently, the patient underwent mitral valve repair surgery with an uneventful recovery.
CONCLUSIONS
Our case highlights the importance of promptly diagnosing HACEK endocarditis. A prolonged course of antibiotic therapy can be lifesaving, and surgery is often necessary to address complications such as perforation within the mitral valve leaflets. In our patient, we were able to perform a sliding P2 leaflet plasty for good quality repair of the mitral valve, through a minimally invasive right anterior thoracotomy.
PubMed: 38709318
DOI: 10.1186/s43044-024-00482-6 -
JCEM Case Reports May 2024Malignancies may induce clinical sequelae distant from the sites of the tumor. Such paraneoplastic phenomena are known to affect many organs, including the skin....
Malignancies may induce clinical sequelae distant from the sites of the tumor. Such paraneoplastic phenomena are known to affect many organs, including the skin. Vitiligo is a disorder of patchy depigmentation, appearing as white macules with distinct margins. Rarely, vitiligo has been reported as a paraneoplastic occurrence, in the settings of pituitary adenoma, thymoma, gastric carcinoma, and lymphoma. We now describe a man presenting with the abrupt onset of vitiligo on the hands coinciding with recurrence of adrenocortical carcinoma (ACC) in the abdomen. The vitiligo rapidly dissipated following resection of his cancer. We believe this to be the first report of paraneoplastic vitiligo associated with ACC. Endocrinologists typically manage ACC and should be aware of this link, as the de novo observation of vitiligo may signal the onset or recurrence of underlying tumor. Other practitioners that encounter patients with new vitiligo should add ACC to their differential diagnosis of potential underlying conditions.
PubMed: 38707658
DOI: 10.1210/jcemcr/luae070 -
International Journal of Women's... Jun 2024
PubMed: 38706689
DOI: 10.1097/JW9.0000000000000148 -
Pediatric Dermatology Apr 2024The follicular variant of Becker's nevus is an under-reported entity. We present the rare occurrence of follicular Becker's nevus in 7 patients, confirmed through...
The follicular variant of Becker's nevus is an under-reported entity. We present the rare occurrence of follicular Becker's nevus in 7 patients, confirmed through dermoscopy and histopathological examination. Dermoscopy shows perifollicular hypopigmentation surrounded by a well-defined net-like pigmentation corresponding clinically to the presence of folliculocentric macules. Histology shows prominent basal and suprabasal melanization surrounding the follicle, corresponding to well-defined net-like pigmentation seen on dermoscopy. However, the melanization does not extend along the entire length of the follicular epithelium leading to perifollicular hypopigmentation on dermoscopy. Though biopsy is confirmatory, it is not usually necessary.
PubMed: 38689523
DOI: 10.1111/pde.15641