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Cureus May 2024Pigmented lesions in the oral cavity can arise from the accumulation of external substances or internal pigments, resulting in black or brown discoloration. The etiology...
Pigmented lesions in the oral cavity can arise from the accumulation of external substances or internal pigments, resulting in black or brown discoloration. The etiology can be categorized as physiologic, reactive, neoplastic, idiopathic, or indicative of systemic illness. Several systemic drugs have been linked to the development of oral and/or cutaneous pigmentation, either by stimulating the production of melanin or by the accumulation of the drug or its byproducts. The medications most commonly associated with this condition include antimalarials, hormones, oral contraceptives, phenothiazines, chemotherapeutics, amiodarone, minocycline, zidovudine, clofazimine, and ketoconazole. The aim of this case report is to illustrate the drug-induced appearance of multiple melanotic macules in an 89-year-old female patient. The patient was referred to the Department of Oral Medicine and Pathology, School of Dentistry, Aristotle University of Thessaloniki, Greece, complaining of the recent and constant appearance of black spots in her oral cavity. Her medical history revealed a multitude of prescribed drugs, with citalopram being the most recently prescribed one, approximately one year prior to the examination. The clinical examination revealed multiple melanotic macules, on the upper and lower lip as well as on the hard and soft palate. Based on these findings, a biopsy of a melanotic macule of the lip was carried out. The histopathological examination showed that the basal layer of the stratified squamous epithelium exhibited hyperpigmentation (melanin-pigmented basal cells). In addition, scattered melaninophages were noted in lamina propria. Psychotropic drugs associated with cutaneous hyperpigmentation include citalopram. Therefore, our case constitutes an exception since citalopram induced intraoral and perioral, instead of cutaneous, hyperpigmentation.
PubMed: 38910786
DOI: 10.7759/cureus.60889 -
Cureus May 2024Intralesional steroid injections avoid potential side effects associated with systemic administration, such as hypothalamus-pituitary-adrenal axis suppression,...
Intralesional steroid injections avoid potential side effects associated with systemic administration, such as hypothalamus-pituitary-adrenal axis suppression, endocrine changes, allergic reactions, syncope, and blindness, but do not spare local side effects, such as pain, hemorrhage, ulceration, atrophy, hypopigmentation, calcification, secondary infection, granuloma formation, and allergic reaction. Linear leukoderma following intralesional steroid is a rare but known complication. Here, we report a case of a 23-year-old female presented with cutaneous linear depigmentation along the volar aspect of her left forearm developed three months following a single episode of injection triamcinolone acetonide for ganglion cyst.
PubMed: 38903338
DOI: 10.7759/cureus.60783 -
Case Reports in Gastroenterology 2024Gastrointestinal stromal tumours (GISTs) are an important, though uncommon, cause of obscure gastrointestinal bleeding and may rarely be associated with genodermatoses...
INTRODUCTION
Gastrointestinal stromal tumours (GISTs) are an important, though uncommon, cause of obscure gastrointestinal bleeding and may rarely be associated with genodermatoses such as neurofibromatosis type 1 (NF1). NF1-related GISTs have unique phenotypic features compared with sporadic GISTs and may elude diagnosis due to their predilection for the small bowel.
CASE PRESENTATION
We report a case of a 45-year-old Singaporean woman with café-au-lait macules and cutaneous neurofibromas who presented with occult obscure gastrointestinal bleeding and was eventually discovered to have a bleeding jejunal GIST. This finding, considered together with her cutaneous signs, eventually led to the diagnosis of NF1.
CONCLUSION
Genodermatoses and their gastrointestinal complications are likely under-reported in adult Southeast Asian populations and deserve greater awareness from gastroenterologists practising in this region.
PubMed: 38895585
DOI: 10.1159/000538688 -
Frontiers in Pediatrics 2024Genetic disposition is a major etiologic factor in childhood cancer. More than 100 cancer predisposing syndromes (CPS) are known. Surveillance protocols seek to mitigate...
INTRODUCTION
Genetic disposition is a major etiologic factor in childhood cancer. More than 100 cancer predisposing syndromes (CPS) are known. Surveillance protocols seek to mitigate morbidity and mortality. To implement recommendations in patient care and to ascertain that the constant gain of knowledge forces its way into practice specific pediatric CPS programs were established.
PATIENTS AND METHODS
We retrospectively analyzed data on children, adolescents, and young adults referred to our pediatric CPS program between October 1, 2021, and March 31, 2023. Follow-up ended on December 31, 2023.
RESULTS
We identified 67 patients (30 male, 36 female, 1 non-binary, median age 9.5 years). Thirty-five patients were referred for CPS surveillance, 32 for features suspicious of a CPS including café-au-lait macules ( = 10), overgrowth ( = 9), other specific symptoms ( = 4), cancer suspicious of a CPS ( = 6), and rare neoplasms ( = 3). CPS was confirmed by clinical criteria in 6 patients and genetic testing in 7 (of 13). In addition, 6 clinically unaffected at-risk relatives were identified carrying a cancer predisposing pathogenic variant. A total of 48 patients were eventually diagnosed with CPS, surveillance recommendations were on record for 45. Of those, 8 patients did not keep their appointments for various reasons. Surveillance revealed neoplasms ( = 2) and metachronous tumors ( = 4) by clinical ( = 2), radiological examination ( = 2), and endoscopy ( = 2). Psychosocial counselling was utilized by 16 (of 45; 35.6%) families.
CONCLUSIONS
The diverse pediatric CPSs pose several challenges necessitating interdisciplinary care in specified CPS programs. To ultimately improve outcome including psychosocial well-being joint clinical and research efforts are necessary.
PubMed: 38887560
DOI: 10.3389/fped.2024.1410061 -
American Journal of Medical Genetics.... Jun 2024Harel-Yoon syndrome (HAYOS) is a unique neurodevelopmental genetic disorder characterized by hypotonia, spasticity, intellectual disability, hypertrophic cardiomyopathy,...
Harel-Yoon syndrome (HAYOS) is a unique neurodevelopmental genetic disorder characterized by hypotonia, spasticity, intellectual disability, hypertrophic cardiomyopathy, and global developmental delay. It primarily results from mutations in the ATAD3A gene, pivotal for mitochondrial function. This report presents a 5-year-old girl with HAYOS harboring a de novo heterozygous variant c.1064G>A; (p.G355D) in ATAD3A. Her clinical profile includes delayed milestones, hypotonia, spastic quadriplegia, and ptosis. Notably, dermatologic anomalies such as hypopigmentation, café au lait macules, and freckling are observed, expanding the known phenotype of HAYOS. The inclusion of dermatologic features challenges our understanding of the syndrome and emphasizes the importance of further research to elucidate the molecular connections between ATAD3A mutations and dermatologic manifestations.
PubMed: 38877820
DOI: 10.1002/ajmg.a.63647 -
Journal of the American Psychiatric... Jun 2024The objective of this discussion paper is to illuminate the importance of early identification and treatment of Stevens-Johnson Syndrome (SJS) and toxic epidermal...
OBJECTIVE
The objective of this discussion paper is to illuminate the importance of early identification and treatment of Stevens-Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN). SJS/TEN may occur as quickly as 4 days, more commonly 4 to 8 weeks after starting a new medication and early identification is essential.
METHODS
A review of literature revealed there is a lack of diagnostic awareness related to the clinical presentation and diverse populations at risk for this devastating syndrome.
RESULTS
A Boolean search was conducted, and six quantitative and qualitative research articles were discovered that indicate a knowledge disparity between "rash" versus SJS/TEN. Research indicates evidence-based best clinical practices for nurses and health care practitioners for assessment of risks, clinical presentation, and treatment.
CONCLUSIONS
Prompt diagnosis and discontinuation of the suspected medication will reduce potential life-threatening sequelae.
PubMed: 38868958
DOI: 10.1177/10783903241252810 -
Actas Dermo-sifiliograficas Jun 2024
PubMed: 38857844
DOI: 10.1016/j.ad.2024.02.034 -
Industrial Psychiatry Journal 2024Vitiligo is a common depigmenting dermatosis characterized by milky-white macules or patches. Any pathological discoloration of the skin has been linked to an impact on...
BACKGROUND
Vitiligo is a common depigmenting dermatosis characterized by milky-white macules or patches. Any pathological discoloration of the skin has been linked to an impact on the body image of an individual, and vitiligo has been linked to decreased self-esteem and poor socialization of the affected people. In Indian society, vitiligo is labeled as Shweta-Kushta (i.e., white-colored leprosy) and is compared to leprosy-a more stigmatizing skin condition.
AIM
This study aims to study gender-related differences in the quality of life of Indian vitiligo patients.
METHODOLOGY
In this hospital-based cross-sectional study, a total of 55 vitiligo patients (females 25 and males 30) were enrolled using the purposive sampling technique. The sample was assessed on Dermatology Life Quality Index (DLQI) questionnaire, Rosenberg Self-Esteem Scale (RSS), and General Health Questionnaire-12 (GHQ-12) to assess their quality of life, self-esteem, and psychological well-being, respectively. The gender differences in sociodemographic and clinical details as well as their relationship with the quality of life of the patients were sought with the help of appropriate statistical measures.
RESULTS
The patients of both genders were comparable in terms of all sociodemographic and clinical variables except the females being less educated and employed than the males. There was a statistically significant trend of higher mean DLQI total score in females than males (6.6 ± 3.55 vs 4.8 ± 2.71, Mann-Whitney U = 263.5, =0.058). Significantly, the average DLQI score in female vitiligo patients was negatively related to family income ( = -.659, <.001) and it was significantly higher for the patients from a rural background than those from an urban background (8.55 ± 3.30 vs 5.07 ± 3.03, Mann-Whitney U = 33.5, <.05). The average DLQI score was negatively correlated to RSS score but positively correlated to GHQ-12 score in patients of both genders.
CONCLUSION
The quality of life of female patients with vitiligo is poorer than the same in male patients. The poor financial condition of families and rural living are two factors related to the poorer quality of life of female patients. A poorer quality of life in vitiligo patients of both genders is linked with decreased self-esteem and decreased psychological well-being. Gender-related issues in the quality of life and the overall well-being of such patients are important in their management and policy-making.
PubMed: 38853817
DOI: 10.4103/ipj.ipj_74_23 -
Combined low-dose isotretinoin and long-pulsed nd: YAG laser in the treatment of post-acne erythema.Archives of Dermatological Research Jun 2024Post-acne erythema (PAE) is a bothering skin condition that emerges from inflammatory acne and persists after its resolution. It is characterized by telangiectasia and...
Post-acne erythema (PAE) is a bothering skin condition that emerges from inflammatory acne and persists after its resolution. It is characterized by telangiectasia and erythematous macules. the role of 1064-nm Nd: YAG when combined with low-dose isotretinoin in the acne erythema treatment. forty-eight PAE patients were involved in the study. They were divided into two groups; group (A) patients administering a low dose of oral isotretinoin (10 mg/day) and underwent a total of six two-week interval sessions of 1064 ND-YAG laser treatment, group (B) patients administering a low dose of oral isotretinoin (10 mg/day) only. All adverse effects experienced during the course of therapy were documented, and photos were taken before the start of the treatment and following the end of the treatment duration. Following the completion of the therapeutic intervention, a significant improvement in clinical condition was observed in both groups, with more improvement in group (A) compared to group (B) as evidenced by a notable improvement in the score on the Clinician Erythema Assessment Scale (CEAS) and also a significant decrease in the mean value of optical density of the erythema. combined 1064-nm Nd: YAG with low-dose isotretinoin may be an efficient and secure line in the PAE treatment. Also, the combined therapy had superior results when compared to low-dose isotretinoin alone.
Topics: Humans; Isotretinoin; Erythema; Acne Vulgaris; Female; Male; Lasers, Solid-State; Adult; Dermatologic Agents; Young Adult; Treatment Outcome; Adolescent; Combined Modality Therapy
PubMed: 38850412
DOI: 10.1007/s00403-024-03143-5 -
Indian Dermatology Online Journal 2024Vitiligo is an inveterate disease of great aesthetic concern presenting with depigmented macules and patches. It is often incorrigible to medical treatment.
BACKGROUND
Vitiligo is an inveterate disease of great aesthetic concern presenting with depigmented macules and patches. It is often incorrigible to medical treatment.
AIM
To study the clinical profile of vitiligo patients and evaluate the effect of 5% 5-fluorouracil (5-FU) cream with microneedling.
MATERIALS AND METHODS
This observational analytical study was conducted from November 2019 to July 2021. A total of 33 adult vitiligo patients were treated with oral mini-pulse (dexamethasone) therapy and topical corticosteroid (clobetasol propionate 0.05%). Patient's total number of vitiligo lesions with <10-cm size were counted and half of the lesions were treated with 5-FU + microneedling (Group A), while a remaining number of lesions were not treated with 5-FU + microneedling (Group B). In the case of the odd number of lesions, the total number of lesions minus one was considered and then divided into equal numbers for treatment. The procedure was performed every 2 weeks for 3 months. Clinical improvement was assessed monthly till 6 months by serial clinical photographs and grading scores.
RESULTS
Initiation of repigmentation started in the first month in Group A, whereas in Group B, it was seen in the second, which was statistically significant ( < 0.0001). Excellent improvement (>75% repigmentation) was noted in Group A as compared to Group B at the end of 6 months ( < 0.0001).
CONCLUSIONS
Needling with 5% 5-FU appears to be a simple, safe, and effective treatment in vitiligo. It can be used in poor responders to conventional therapy.
PubMed: 38845671
DOI: 10.4103/idoj.idoj_774_23