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1.
Cureus ; 16(4): e58523, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38957829

ABSTRACT

Although most melanomas have a cutaneous origin, melanomas are rarely discovered without an overt primary site and are found in the metastatic stage. This phenomenon is called melanoma of unknown primary (MUP), which was first recorded in 1963.Melanoma can also rarely present as tumoral melanosis, which has completely regressed. By definition, this does not have viable melanocytes and histologically presents as an infiltration of melanophages and melanin. A 71-year-old female presented for dermatologic evaluation after being found to have melanoma of unknown primary (MUP). The MUP, located in multiple lymph nodes of the left superior and inferior inguinal region, was found on preoperative imaging indicated for surgical management of endometrial carcinoma. After the biopsy, a positron emission tomography-computed tomography (PET-CT) scan was performed to determine the extent of involvement, which noted focal uptake of the left heel of just medial to midline with an SUV max of 2.1. Based on the PET-CT findings, the patient was questioned about the lesion on her heel. She had suspected this was due to friction and stated it had been asymptomatic and present for years. This unique case demonstrates that combined total skin examination and whole-body radiologic imaging (preferably PET-CT) are both critical elements in the evaluation of MUP. Since melanoma of unknown primary is at least American Joint Committee on Cancer (AJCC) 8 Stage III (due to N1 status), imaging is reasonable in these patients.

2.
Food Chem X ; 23: 101532, 2024 Oct 30.
Article in English | MEDLINE | ID: mdl-38952561

ABSTRACT

Chitosan coating containing nanoliposomes loaded with licorice root extract was prepared to investigate shrimp's shelf life and anti-browning function during 20 days of ice storage. 1% licorice root hydroethanolic extract (LHE) was encapsulated in nanoliposomes or coated with chitosan, and then the shrimp were immersed in coating solutions. LHE treatment had the lowest browning indices (5 and 1.02), TBA (0.32 mg MDA/kg), and FFA (0.01%). Chitosan-coated LHE treatment (Ch-LHE) showed the best performance for TVN, microbial counts, and discoloration. PV, WHC, and cook loss in the treatment with LHE nanoliposome coated with chitosan (Ch-N-LHE) were measured at acceptable levels of 0.53 meq/kg, 86.12%, and 15.06%, respectively. Experiments showed that pure or encapsulated LHE is an effective method for increasing the quality and preventing the browning of shrimp. Additionally, due to its cost-effectiveness and health benefits, it can be an effective natural substitute for sodium metabisulfite at the global export level.

3.
Eur J Dermatol ; 34(2): 131-138, 2024 Apr 01.
Article in English | MEDLINE | ID: mdl-38907542

ABSTRACT

The clinical diagnosis of pigmented genital lesions is challenging. Reflectance confocal microscopy (RCM) is effective for diagnosis but is limited in its application due to elevated costs. A more affordable dermatoscope with a 400x magnification (D400) has recently been brought to market. The aim of our study was to compare these two imaging techniques for the analysis of pigmented genital tumours. An observational, prospective and mono-centric study was carried out from October 2017 to May 2019, in which clinical, dermatoscopic (20x and 400x) and RCM data from 207 pigmented genital lesions were collected. The images generated via D400 and RCM were analysed by three expert investigators. Similarities between the criteria observed using D400 and RCM were evaluated by each investigator. In total, 207 lesions were included: 183 melanosis, 19 nevi, one basal cell carcinoma (BCC), two condylomas and two melanomas in situ. Our series correlates well with data found in the literature especially for the distribution of different lesions, their topography, and their aspect using x20 dermatoscopy and RCM. Pattern and cell criteria defined using RCM largely paralleled those observed with D400 for all three investigators. Correlation between D400 and RCM was moderate to strong with regards to the identification of the ring pattern and clustered round cells, strong for dendritic and plump cells, and perfect for isolated round cells and spindle cells. D400 is an easy-to-use, cost-effective alternative for the analysis of pigmented genital lesions, particularly for melanosis.


Subject(s)
Dermoscopy , Melanosis , Microscopy, Confocal , Skin Neoplasms , Humans , Microscopy, Confocal/methods , Melanosis/diagnostic imaging , Melanosis/pathology , Prospective Studies , Skin Neoplasms/pathology , Skin Neoplasms/diagnostic imaging , Female , Male , Melanoma/diagnostic imaging , Melanoma/pathology , Carcinoma, Basal Cell/diagnostic imaging , Carcinoma, Basal Cell/pathology , Middle Aged , Adult , Condylomata Acuminata/diagnostic imaging , Condylomata Acuminata/diagnosis , Condylomata Acuminata/pathology , Nevus, Pigmented/diagnostic imaging , Nevus, Pigmented/pathology , Aged , Genital Diseases, Female/diagnostic imaging , Genital Diseases, Female/pathology , Nevus/diagnostic imaging , Nevus/pathology
4.
J Fish Dis ; : e13988, 2024 Jun 29.
Article in English | MEDLINE | ID: mdl-38943363

ABSTRACT

Melanized focal changes (MFCs) in the fillet of farmed Atlantic salmon is a major quality concern. The changes are thought to initially appear as acute red focal changes (RFCs) that progress into chronic MFCs. Recent findings have indicated that hypoxia may be important in their development, possibly leading to necrosis affecting not only myocytes but also adipocytes. Thus, the aim of this study was to investigate possible hypoxic conditions in RFCs and the subsequent inflammatory responses and lesions in the adipose tissue in RFCs and MFCs. A collection of RFCs, MFCs and control muscle samples from several groups of farmed salmon was studied. Using immunohistochemistry, we found induction of the hypoxia-inducible factor 1 pathway in RFCs. Histological investigations of RFCs and MFCs revealed different stages of fat necrosis, including necrotic adipocytes, a myospherulosis-like reaction and the formation of pseudocystic spaces. Accumulations of foamy macrophages were detected in MFCs, indicating degradation and phagocytosis of lipids. Using in situ hybridization, we showed the presence of tyrosinase- and tyrosinase-related protein-1-expressing amelanotic cells in RFCs, which in turn became melanized in MFCs. In conclusion, we propose a sequence of events leading to the formation of MFCs, highlighting the pivotal role of adiposity, hypoxia and fat necrosis.

5.
Vet Sci ; 11(6)2024 Jun 07.
Article in English | MEDLINE | ID: mdl-38922008

ABSTRACT

This study investigated the utility of optical coherence tomography (OCT) for staging iris pigmented lesions in cats. Eighteen cats that underwent OCT examination for unilateral iris pigmented lesion were included. The cats were either suspected of melanosis due to clinical features (n = 8) or had been definitively diagnosed through histopathology with iris melanosis (n = 3), early feline diffuse iris melanoma (FDIM) (n = 4), or mid-stage or advanced FDIM (n = 3). From OCT images, mean iris thickness (MIT) was measured, and the ratio of pigmented lesion to normal iris (PN) was calculated. OCT images depicted the entire iris layer in all eyes with suspected melanosis, iris melanosis, and early FDIM, but observing the entire lesion in mid-stage/advanced FDIM was challenging. No significant difference in MIT was observed among the groups. Conversely, PN ratio was significantly higher (p < 0.05) in early FDIM (1.29 ± 0.16) than in suspected melanosis (1.02 ± 0.10) or iris melanosis (0.99 ± 0.09). Furthermore, OCT imaging revealed hyperreflective lines in 75% of eyes with suspected melanosis and in all the eyes with iris melanosis, corresponding to the pigmented lesions. Our results demonstrate that OCT is capable of detecting subtle differences in iris thickness and features in early-stage FDIM, indicating its potential utility in distinguishing between iris melanosis and early FDIM. Further study is warranted to verify the reliability of such OCT findings.

6.
Front Med (Lausanne) ; 11: 1401938, 2024.
Article in English | MEDLINE | ID: mdl-38919937

ABSTRACT

Riehl's melanosis is a pigmented dermatitis that manifests as brown-gray facial pigmentation with pigment incontinence and infiltration of cells in the upper dermis. The associated inflammation is induced by a variety of products such as drugs and cosmetics. Henna, commonly referred to as a hypoallergenic cosmetic, has been reported to cause Riehl's melanosis in some cases. Although skin depigmenting agents have been occasionally used, satisfactory results have not been obtained and no established therapeutic strategies exist to treat Riehl's melanosis. Meanwhile, picosecond lasers effectively treat other hyperpigmentation disorders. In this study, we report safe and effective treatment of henna induced-atypical Riehl's melanosis using a 755-nm picosecond Alexandrite laser. Immunohistochemical analyses revealed a potential role of CD8-positive lymphocytes in henna-induced inflammation and hyperpigmentation of the basal layer, and a role of melanophages in the pigmented dermis of Riehl's melanosis.

7.
Article in English | MEDLINE | ID: mdl-38841970

ABSTRACT

Background With the rise in cosmetic usage, adverse reactions related to cosmetics have also risen. Photocontact dermatitis to cosmetics is a challenging entity to diagnose and manage. Objectives To evaluate the clinical features and photocontact sensitivity patterns in patients with cosmetic dermatitis and establish their association based on patch and photopatch test results. Methods A prospective observational study, where 80 patients with a clinical diagnosis of cosmetic dermatitis were patch or photopatch tested (as per indication) with the Indian standard series, Indian cosmetic and fragrance series, and the patient's personal product(s). Results A total of 104 positive reactions were observed in 57/80 patients, of which 50 were relevant to cosmetics usage. Sixty-five patients underwent a photopatch test, and 17 tested positive. Photosensitivity in patients was significantly associated with a positive photopatch test (p-value < 0.001). Various new photo-allergens were discovered, including propylene glycol, triethanolamine, chloroacetamide, isopropyl myristate, cetrimide and hexamine. Facial melanosis was a predominant clinical finding in 44 patients, with pigmented contact dermatitis detected in 19 (43.2%) of these cases. Limitations Patients' personal products could not be tested on every patient. Chemical analysis of indigenous products and the individual chemical ingredients of the patient's personal products could not be patch-tested separately. Phototesting was not performed in patients with photosensitivity. Conclusion In patients with suspected cosmetic dermatitis with history of photosensitivity or those with facial melanosis of unknown origin, a photopatch test is crucial to detect potentially hidden photo allergens. Many new photo allergens have emerged in the present study. Cosmetic companies should provide detailed information regarding each constituent of the cosmetic products.

8.
9.
Pediatr Dermatol ; 2024 Apr 30.
Article in English | MEDLINE | ID: mdl-38689523

ABSTRACT

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.

10.
Ann Dermatol ; 36(3): 125-134, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38816973

ABSTRACT

Melasma is a prevalent hyperpigmentation condition known for its challenging treatment due to its resemblance to photoaged skin disorders. Numerous studies have shed light on the intricate nature of melasma, which often bears similarity to photoaging disorders. Various therapeutic approaches, encompassing topical and systemic treatments, chemical peeling, and laser therapy, have exhibited efficacy in managing melasma in previous research. However, melasma often reoccurs despite successful treatment, primarily due to its inherent photoaged properties. Given that melasma shares features with photoaging disorders, including disruptions in the basement membrane, solar elastosis, angiogenesis, and mast cell infiltration in the dermal layer, a comprehensive treatment strategy is imperative. Such an approach might involve addressing epidermal hyperpigmentation while concurrently restoring dermal components. In this article, we provide a comprehensive review of conventional treatment methods frequently employed in clinical practice, as well as innovative treatments currently under development for melasma management. Additionally, we offer an extensive overview of the pathogenesis of melasma.

11.
Clin Cosmet Investig Dermatol ; 17: 1203-1216, 2024.
Article in English | MEDLINE | ID: mdl-38800358

ABSTRACT

Melasma is a common challenge in the field of pigmentary skin disorders, exerting a significant emotional and psychosocial burden on patients. The persistent and recurring nature of melasma complicates its management in routine clinical practice. This comprehensive review outlines a stepwise, practical approach encompassing diagnostic, preventive and therapeutic strategies for the management of melasma. A thorough exploration of aggravating and exacerbating factors, including sun exposure, hormonal imbalances, photosensitizing medication and cosmetics, is essential for a holistic assessment of the disease. With an emphasis on consistent and effective photoprotection, initial topical treatment modalities target the melanin production and/or the transfer of melanosomes to keratinocytes. Topical tyrosine inhibitors emerge as the first choice for reducing and preventing hyperpigmentation, with compounds such as thiamidol or tranexamic acid (TXA) being preferred for their safety profile over hydroquinone (HQ), kojic acid and arbutin. Combination with chemical peels can further enhance the therapeutic efficacy, even in cases with resistant melasma. In more severe cases, laser- and light-based interventions may be considered, but with the caveat of the likelihood of recurrence within 3-6 months. Assisted TXA delivery, via either fractional non-ablative laser or microneedling techniques, can further improve clinical outcomes. In conclusion, an optimal melasma management strategy is a multimodal approach, which includes effective photoprotection and a mix of different topical treatments targeting melanin synthesis, the anti-inflammatory environment, senescence and vascularity. Complementary procedures, such as chemical peels, and laser, light-based or microneedling procedures, with or without TXA, can further expedite melanin clearance in more severely affected instances. Individual discussions with patients regarding treatment expectations, recurrence likelihood and potential side effects are paramount to a comprehensive and successful therapeutic journey.

12.
J Cutan Aesthet Surg ; 17(2): 112-123, 2024.
Article in English | MEDLINE | ID: mdl-38800811

ABSTRACT

Introduction: Facial pigmentation is a common presentation of patients attending dermatology out patient department (OPD) and is of great concern to patients. Facial pigmentation may be multifactorial and is only rarely diagnosed accurately by a detailed history and clinical examination. Pigmentary disorders cause psychological distress and negatively impact the quality of life of an individual. Aims and Objectives: (1) To study different dermoscopic patterns in facial melanosis. (2) To estimate the frequency of different dermoscopic patterns. Materials and Methods: Patients with facial hyperpigmentation attending the dermatology OPD were recruited after taking their written consent. A detailed history was taken to collect demographic data. Clinical examination and dermoscopy were done in all patients. Biopsy was done as and when required. Descriptive statistics has been used to describe the quantitative data. Qualitative data were presented as frequency and percentage for clinical and dermoscopic patterns. Results: The study included 100 patients with 15 different facial melanoses. The most common age group affected was 21-40 years in 53 (53%) cases. The female-to-male ratio was 1.63:1. Melasma was reported as the most common cause of facial melanosis constituting 49 (49%) of the total cases. Out of the total melasma cases, epidermal melasma constituted 22 (45%) cases, dermal melasma constituted four (4%) cases and mixed melasma constituted 23 (47%) cases. Other cases included were lichen planus pigmentosus (14; 14%), facial acanthosis nigricans (14; 14%), periorbital hyperpigmentation (7; 7%), post-inflammatory hyperpigmentation (4; 4%), exogenous ochronosis (2; 2%), lentigines (2; 2%), frictional melanosis (2;2%), and one case each of Becker's nevus, nevus of Ota, olanzapine-induced hyperpigmentation, Riehl's melanosis, macular amyloidosis, and tanning. Conclusions: Melasma was reported as the most common cause of facial melanosis. The most common dermoscopic feature was accentuated pseudopigment network. The study is beneficial in understanding the different clinical and dermoscopic patterns of facial melanosis, thus helping the physician to effectively manage the conditions and reduce the need of biopsy. Limitations: (1) A small sample size. (2) Histopathological correlation was not done in all cases.

13.
J Surg Case Rep ; 2024(5): rjae269, 2024 May.
Article in English | MEDLINE | ID: mdl-38706479

ABSTRACT

Melanosis, the aberrant deposition of melanin pigment in the absence of melanocytes, is very rare in the genitourinary tract. We report a case of a 74-year-old male with symptomatic benign prostatic hyperplasia. Diagnostic cystourethroscopy demonstrated bladder mucosa remarkable for numerous flat, velvety, and brown-black lesions. The patient underwent cystolitholapaxy, transurethral resection of the prostate, and bladder biopsy. Microscopic examination of the bladder biopsy demonstrated urothelium with granular, black pigmentation within the mucosa and histiocytes in the lamina propria; a Fontana Masson stain was positive for melanin. Microscopic examination of the transurethral resection of the prostate demonstrated nodular hyperplasia with focal, black pigmentation of the stroma. The rarity of bladder and prostate melanosis highlights the need for further investigation to elucidate its clinical significance and provide assurance of its benignity. Despite its rarity, melanosis should be kept in the differential diagnosis when melanotic lesions are encountered during cystoscopy.

14.
JAAD Int ; 15: 206-219, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38707930

ABSTRACT

Background: Hyperpigmentation results in uneven skin tone, with darker skin types disproportionately affected. Objective: Assess efficacy and safety of a novel, hydroquinone (HQ)-free, multimodal pigment-correcting serum (Advanced Brightening Treatment [ABT]) versus 4% HQ in moderate to severe hyperpigmentation, including melasma. Methods: In this split-face study, ABT and 4% HQ were applied topically on randomly assigned facial sides twice daily for 12 weeks. Hyperpigmentation, skin tone evenness, modified Melasma Area and Severity Index (mMASI), Melasma Quality of Life Questionnaire (MelasQoL), self-assessment questionnaires, and tolerability were assessed. Results: Subjects (n = 113; melasma subgroup, n = 44) were Asian (22%), Black/African American (27%), Hispanic (22%), and White/Caucasian (28%). ABT achieved comparable results to 4% HQ. ABT was well tolerated and resulted in improvement versus baseline at all visits in mean overall hyperpigmentation (-11.7% at week 12; P ≤ .001), skin tone evenness (-8.8%, P ≤ .005), and, in the melasma subgroup, mMASI (-50.6%; P ≤ .011) and MelasQoL scores (33.0 vs 46.6 for week 12 vs baseline, respectively; P ≤ .011), with similar results across racial subgroups. ABT was preferred over 4% HQ, with high satisfaction rate (≥89%). Limitations: Quality of life improvements per treatment were not evaluated separately. Conclusion: Efficacy and safety of ABT is comparable to 4% HQ in individuals with facial hyperpigmentation, including melasma, across multiple racial/ethnic backgrounds.

15.
J Clin Med ; 13(7)2024 Apr 05.
Article in English | MEDLINE | ID: mdl-38610881

ABSTRACT

The heightened awareness of ethnic dermatology aligns with the growing prevalence of skin of color communities globally, where hyperpigmentation disorders pose a common dermatological challenge. Effectively addressing dermal pigmentation is challenging due to its resistance to conventional therapies and its association with impaired quality of life. This underscores the need for effective treatments and a thorough grasp of laser advancements. A relevant literature search spanning the last 7 years across the PubMed database reveals core studies, challenges, and the evolution of laser technologies tailored for various forms of congenital and acquired dermal hyperpigmentation in skin of color. This comprehensive review explores the mechanisms, applications, and recommendations for pigmentary laser technologies, highlighting the key role of Q-switched lasers in their established millisecond/ nanosecond forms and emerging picosecond lasers, fractional non-ablative and ablative lasers, Intense Pulsed Light, etc. The summary of evidence includes studies on dermal melanocytosis (nevus of Ota and Hori's nevus), tattoos, acquired dermal macular hyperpigmentation, etc., and also entities with mixed epidermal-dermal components, such as melasma and post-inflammatory hyperpigmentation. The review offers valuable insights for clinicians to make informed decisions based on diagnosis, skin type, and the latest technologies to optimize results and minimize complications, especially in darker Fitzpatrick skin types. In their five-year study with 122 Indian patients, the authors applied specific laser combinations for diverse dermal melanoses, including tattoos, dermal/mixed melasma, acquired dermal macular hyperpigmentation, and dermal nevi. Substantial pigmentation reduction, subjectively assessed by both physicians and patients, was observed across all groups. A one-way ANOVA indicated a significant difference in mean improvement scores across various pigmentary conditions (F = 3.39, p = 0.02), with melasma patients exhibiting a significantly higher improvement score than tattoos (p = 0.03). The results affirmed the safety and efficacy of sequential laser therapy for dermal pigmentation in skin of color, advocating for flexibility in approach while maintaining the rationale behind the laser sequences. Despite advancements, challenges persist, and gaps in the current literature are identified. In conclusion, this summary highlights the ongoing pursuit of optimal protocols in dermatological laser treatments for dermal melanoses, offering valuable insights for future research and clinical practice.

16.
SAGE Open Med Case Rep ; 12: 2050313X241242597, 2024.
Article in English | MEDLINE | ID: mdl-38585420

ABSTRACT

Melanosis coli is a dark to brown pigmentation of the colon due to lipofuscin deposition within the cytoplasm of cells. It is a benign condition associated with excessive use of laxatives, particularly those that are anthracene derivatives and common herbal remedies like Cassia Angustifolla (senna). It is usually asymptomatic and diagnosed incidentally during colonoscopy or histopathologic evaluation. We present a case of a 56-year-old male patient who presented with diarrhea of 3 months duration, which started after he began to use California herbal tea for his constipation. Colonoscopic evaluation revealed an intense pigmentation throughout the colon suggestive of Melanosis coli, which was confirmed on histopathology. In patients with prolonged use of California herbal tea and dark to brown pigmentations of colonic mucosa on colonoscopy, there should be a high index of suspicion for Melanosis coli. And patients should be aware of the risk of developing Melanosis coli following prolonged herbal tea use. The findings presented in our case are in support of few previous literature that showed relations between chronic herbal tea use and Melanosis coli.

17.
J Cosmet Dermatol ; 23(6): 2049-2057, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38456556

ABSTRACT

BACKGROUND: There is no standardized and effective treatment modality for Riehl's melanosis. AIMS: To compare the efficacy and safety of oral tranexamic acid (TXA) combined with intense pulsed light (IPL) versus TXA alone in the treatment of refractory Riehl's melanosis. METHODS: A prospective study of 28 subjects with refractory Riehl's melanosis and Fitzpatrick Skin Types III or IV was conducted. All subjects received oral TXA 500 mg daily and 11 of them were treated in combination with monthly IPL therapy for 6 months. The primary outcome measure was mean melanin index (MI), erythema index (EI) and acquired dermal macular hyperpigmentation area and severity index (DPASI). The Physician Global Assessment (PGA) and patient satisfaction scale were documented. RESULTS: After treatment, DPASI, mean MI, and EI were significantly reduced in both groups. The group treated with combination therapy showed better improvement according to MI (p = 0.0032) and DPASI (p = 0.00468). PGA and patient satisfaction scale showed superior efficacy in the combination group. No significant difference was observed in treatment-related side effects. CONCLUSION: The combination of oral TXA and IPL proves to be a safe and satisfactory treatment strategy for refractory Riehl's melanosis.


Subject(s)
Antifibrinolytic Agents , Intense Pulsed Light Therapy , Melanosis , Patient Satisfaction , Tranexamic Acid , Humans , Tranexamic Acid/administration & dosage , Tranexamic Acid/adverse effects , Melanosis/therapy , Melanosis/drug therapy , Melanosis/diagnosis , Prospective Studies , Female , Male , Middle Aged , Adult , Administration, Oral , Treatment Outcome , Combined Modality Therapy/adverse effects , Combined Modality Therapy/methods , Intense Pulsed Light Therapy/adverse effects , Intense Pulsed Light Therapy/methods , Antifibrinolytic Agents/administration & dosage , Antifibrinolytic Agents/adverse effects , Severity of Illness Index
18.
Intern Med ; 2024 Mar 25.
Article in English | MEDLINE | ID: mdl-38522910

ABSTRACT

The patient was a 79-year-old male. At three years and eight months after his initial presentation, upper gastrointestinal endoscopy revealed a black-flattened elevated lesion in the middle third of the esophagus, which was diagnosed as malignant melanoma on biopsy. No lymph node or distant metastasis was found. A diagnosis of cT1bN0M0 Stage I was thus made. We performed a robot-assisted, minimally invasive esophagectomy and D2 dissection. The postoperative diagnosis was pT1a (MM), N0, M0, vascular invasion+, stage 0. The patient was recurrence-free for 14 months after surgery. We presume that an aggressive biopsy diagnosis is important for the early detection of malignant melanoma.

19.
Mol Syndromol ; 15(1): 63-70, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38357260

ABSTRACT

Introduction: Xia-Gibbs syndrome (OMIM 615829) is a rare developmental disorder, caused by heterozygous de novo variants in the AHDC1 gene. Hallmark features include global developmental delay, facial dysmorphisms, and behavioral problems. To date, more than 250 individuals have been diagnosed worldwide. Case Report: We report a 13-year-old female who, in association with typical features of Xia-Gibbs syndrome, presented with macrocrania, pes cavus, and conjunctival melanosis. Whole-exome sequencing identified a de novo frameshift variant, which had not been reported in the literature before. Conclusion: We summarized the main clinical and phenotypic features of patients described in the literature, and in addition, we discuss another feature found in our patient and observed in other cases described, eye asymmetry, which has never been highlighted, and suggest that it could be part of the typical clinical presentation of this condition.

20.
Front Oncol ; 14: 1332362, 2024.
Article in English | MEDLINE | ID: mdl-38347840

ABSTRACT

This case study documents an extraordinary disease progression in a 70-year-old patient diagnosed with metastatic melanoma. The patient's condition advanced to an unusual manifestation characterized by generalized melanosis and melanuria, a rare and foreboding complication of metastatic melanoma. The clinical presentation involved rapid-onset skin darkening, primarily affecting the face and torso, along with darkened urine, marking the onset of melanuria. Despite extensive diagnostic evaluations, including abdominal ultrasound, neck ultrasound, thoracic CT scans, and endoscopic examinations, the exact metastatic sites remained elusive, demonstrating the diagnostic challenges associated with this condition. Laboratory tests revealed abnormal hematological and biochemical markers, along with elevated S100 protein levels, indicating disease progression. The patient underwent a surgical skin biopsy that confirmed the diagnosis of metastatic melanoma, leading to a multidisciplinary approach to treatment. Following this, the patient-initiated chemotherapy with dacarbazine (DTIC). Regrettably, this was necessitated by the absence of reimbursement for BRAF and MEK inhibitors as well as immunotherapy, and it subsequently led to rapid disease progression and a decline in the patient's clinical condition. The patient's condition further complicated with erysipelas and increased distress, ultimately leading to their unfortunate demise. This case highlights the aggressive nature of generalized melanosis, characterized by a rapid clinical course, substantial pigmentation, and limited response to conventional chemotherapy. Importantly, the patient had a BRAF mutation, emphasizing the urgency of exploring alternative treatment strategies. Patients with a BRAF mutation are excellent candidates for BRAF and MEK inhibitor treatment, potentially allowing them to extend their lifespan if this therapy were available. The challenges encountered in diagnosing, managing, and treating this aggressive form of metastatic melanoma underline the need for early detection, tailored therapeutic approaches, and ongoing research efforts to improve patient outcomes in such cases.

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