BACKGROUND

Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome caused by PRKAR1A gene mutation and  characterized by lentigines, myxomatous tumors and various endocrine neoplasms.

CASE PRESENTATION

This is a case of a 52-year-old male patient who underwent echocardiogram for intermittent palpitations and near-syncopal attack, which revealed a left atrial myxoma. The patient also exhibited multiple lentigines and had a history of histologicallyconfirmed papillary thyroid carcinoma. Surgical excision and subsequent histopathologic examination confirmed cardiac myxoma, fulfilling three major Stratakis criteria for CNC.

DISCUSSION

This case highlights the importance of a thorough history and physical examination with a strong understanding of the syndrome’s features being key to recognizing the disease. Increasing awareness and reinforcing knowledge of CNC are crucial for preventing misdiagnosis and ensuring effective management of this rare condition. To our knowledge, this is the first published case report of CNC in the Philippines, emphasizing the need for heightened regional awareness.

CONCLUSION

CNC may present with subtle or nonspecific symptoms and atypical tumor locations. Early recognition through a high index of suspicion, targeted imaging and a multidisciplinary approach is critical to optimize outcomes and guide family screening in this rare syndrome.

Human ; Male ; Middle Aged: 45-64 Yrs Old ; Multiple Endocrine Neoplasia ; Carney Complex ; Myxoma ; Syndrome ; Neoplasms ; Mutation ; Lentigo ; Genes

Introduction: Childhood obesity is associated with significant metabolic morbidity, particularly insulin resistance (IR) and metabolic syndrome. Acanthosis nigricans (AN) is frequently observed in children with obesity and may represent a practical clinical marker of IR. This study evaluated the association between AN, IR, and metabolic complications in paediatric obesity. Methodology: A retrospective review was performed of 148 children (88 males, 60 females; median age 12 years) attending the Paediatric Obesity Clinic at Universiti Malaya Medical Centre. Data included anthropometry, AN grading, family history, HOMA-IR, and metabolic screening. Outcomes assessed were dyslipidemia, metabolic-associated fatty liver disease (MAFLD), hypertension, obstructive sleep apnea syndrome (OSAS), and glucose dysregulation. Comparisons were made between children with and without AN at baseline and over follow-up (median 2.4 years). Results: AN was present in 81.8% of patients, and 82.4% had central obesity. Increasing AN grade was significantly associated with higher BMI SDS and American Academy of Paediatrics obesity class (p <0.05). AN was more prevalent among Malay and Indian children and was associated with a family history of obesity (p <0.05). Baseline metabolic abnormalities were common, including dyslipidemia (high triglycerides 31.8%, low HDL 30.4%, high LDL 29.7%), MAFLD (23.6%), OSAS (31.1%), and glucose dysregulation (27.7%), with no significant difference between groups. During follow-up, children with AN and more severe obesity developed significantly more metabolic complications, particularly MAFLD and OSAS, with increased requirement for non-invasive ventilation (p <0.05). Higher HOMA-IR was associated with glucose dysregulation but was not independently associated with AN. Conclusion AN is strongly associated with greater adiposity and predicts the progression of metabolic complications in children with obesity. Routine assessment of AN may help identify high-risk patients who would benefit from early, intensive intervention to reduce long-term cardiometabolic morbidity
Child ; Acanthosis Nigricans ; Biomarkers ; Obesity

Through a comprehensive analysis combining network pharmacology prediction and transcriptomics, this study systematically explained the multi-target mechanism of Cyanotis arachnoidea(CA) Gel in improving melasma. A melasma model was induced in female SD rats by progesterone injection combined with ultraviolet B(UVB) irradiation for 40 consecutive days, while the blank control group was only fed routinely. After successful model establishment, the rats were randomly divided into five groups and administered different doses of CA ethanol extract gel(high, medium, and low doses) or arbutin Gel(positive control), which were applied once daily for 28 consecutive days. Subsequently, the levels of superoxide dismutase(SOD), malondialdehyde(MDA), and tyrosinase(TYR) in the skin, serum, and liver tissues were measured. Hematoxylin-eosin(HE) staining and Masson-Fontana staining were used to observe the pathological changes in the tissues. Network pharmacology combined with transcriptomics was employed to identify core targets and pathways, and the differential gene expression was validated by quantitative real-time PCR(qPCR). Pharmacodynamic experiments showed that CA Gel significantly increased SOD activity and decreased MDA and TYR levels in the skin, serum, and liver of model rats. It also improved epidermal thickening, inflammatory infiltration, collagen loss, and melanin deposition. Network pharmacology analysis showed that CA mainly regulated core targets such as signal transducer and activator of transcription 3(STAT3), epidermal growth factor receptor(EGFR), and interleukin-6(IL-6), and modulated the phosphatidylinositol 3-kinase(PI3K)-protein kinase B(AKT) and interleukin-17(IL-17) signaling pathways. Transcriptomic analysis showed that CA Gel significantly downregulated the gene expression of heat shock protein 90β family member 1(Hsp90b1), heat shock protein 90α family member 1(Hsp90aa1), and the key steroid synthesis enzyme cytochrome P450 family 17 subfamily A member 1(Cyp17a1), while upregulating thioredoxin 1(Txn1). qPCR results confirmed that CA Gel regulated oxidative stress and inflammatory response by inhibiting the IL-17 signaling pathway and steroid hormone synthesis. This study, for the first time, reveals the molecular mechanism of CA Gel in improving melasma through multi-target synergistic regulation of oxidative stress, inflammatory response, and hormone metabolism pathways, providing a scientific basis for the treatment of pigmentation diseases with traditional Chinese medicine.
Animals ; Rats ; Female ; Rats, Sprague-Dawley ; Network Pharmacology ; Drugs, Chinese Herbal/administration & dosage* ; Melanosis/metabolism* ; Transcriptome/drug effects* ; Humans ; Superoxide Dismutase/genetics* ; Signal Transduction/drug effects* ; Malondialdehyde/metabolism*

Gastrointestinal polyposis syndromes are primarily characterized by multiple polyps in the gastrointestinal tract, with their pathogenic mechanisms largely related to genetic factors and involving multiple signaling pathways. Adenomatous polyposis syndromes are mainly associated with APC gene variants, while some cases may arise from MUTYH gene variants. Peutz-Jeghers syndrome is primarily linked to STK11 gene variants. Juvenile polyposis syndrome is mainly associated with variants in the SMAD4 and BMPR1A genes. PTEN hamartoma tumor syndrome is predominantly caused by PTEN gene variants. Hereditary mixed polyposis syndrome is primarily related to variants of the GREM1 and BMPR1A genes. This article systematically summarizes the advances in genetic research on Gastrointestinal polyposis syndromes to enhance clinicians' understanding of these diseases and improve their diagnostic and therapeutic approaches.
Humans ; Adenomatous Polyposis Coli/genetics* ; Smad4 Protein/genetics* ; Peutz-Jeghers Syndrome/genetics* ; PTEN Phosphohydrolase/genetics* ; Bone Morphogenetic Protein Receptors, Type I/genetics* ; Intestinal Polyposis/congenital* ; Intercellular Signaling Peptides and Proteins/genetics* ; Adenomatous Polyposis Coli Protein/genetics* ; Protein Serine-Threonine Kinases/genetics* ; AMP-Activated Protein Kinase Kinases ; Neoplastic Syndromes, Hereditary

INTRODUCTION

Melasma, characterized by dark patches on the skin, predominantly affects individuals with Fitzpatrick skin types III-V and is more common among women. Hydroquinone 4% is traditionally the gold standard for melasma treatment due to its efficacy in reducing pigmentation, but alternatives like β-White™, Tyrostat™, and Melanostatine-5™ or a combination of all are being explored for their potentially better safety profiles.

OBJECTIVES

This study aims to determine the efficacy and safety of β-White + Tyrostat, + Melanostatine-5™ creams versus hydroquinone 4% in the treatment of melasma.

METHODOLOGY

A randomized, double-blind clinical trial compared β-White, Tyrostat, and Melanostatine-5 cream to hydroquinone 4% cream in 40 melasma patients. The intervention consisted of 12-week split-face (left-right) application of the said topical medications. Efficacy was measured using modified Melasma Area and Severity Index (mMASI) Score and the Physician’s and Patient’s Global Assessments (PGA). Safety was used by assessing side effects noted during the application. ANOVA and Post hoc tests were used to measure differences in scores.

RESULTS

Forty out of 42 patients were included in the analysis. The trial found that both treatment regimens were effective, with no significant difference in the reduction of melasma severity over 12 weeks. Initially, the experimental group showed more rapid improvement, but by the third month, both groups reported similar outcomes. The experimental group reported no side effects, making it a potentially safer option for long-term management of melasma.

CONCLUSION

Overall, while hydroquinone remains effective, β-White + Tyrostat + Melanostatine-5 cream offers a viable alternative with potentially fewer side effects, making it an attractive option for patients seeking long-term melasma management.

Melasma ; Melanosis ; Hydroquinone

14 workers in the 1, 8-diaminonaphthalene workshop of a chemical company in Nantong City had symptoms or signs of varying degrees of pruritus and pigmentation of the face, neck and waist. Pathological examination of skin biopsies showed hyperkeratosis, the basal cells were liquefied and denatured. Seven workers were eventually diagnosed with occupational melanosis. To explore the causes of occupational melanosis caused by exposure to 1, 8-dinitronaphthalene and 1, 8-diaminonaphthalene, and to provide reference for the prevention and treatment of occupational melanosis in the future, this paper reported 14 cases of melanosis in the skin of workers in chemical industry.
Humans ; Melanosis/pathology* ; Pigmentation ; Skin/pathology*

Humans ; Melanocytes ; Melanosis ; Fibroblasts ; Skin

INTRODUCTION: Pigmented contact dermatitis (PCD) is characterized by non-eczematous pigmentation associated with contact sensitizers, usually without any active or preceding pruritus and erythema. PCD was first described by Riehl, who identified patients with brown to gray facial pigmentation concentrated on the face most commonly associated with sensitizing chemical such as cosmetics, fragrances, and textiles. CASE REPORT: This is a case of a 48-year-old female Filipino who presents with blue-grey to brown patches on the forehead of 1-year duration with no significant pathologic history. Clinical examination, dermoscopy and histology were consistent with a variant of pigmented contact dermatitis known as Riehl melanosis. Since anamnesis was unremarkable, patch testing was done to identify the contact allergen triggering the symptom. Results obtained a positive reaction to nickel, potassium dichromate, and textile dye. CONCLUSION:Treatment includes the elimination of trigger factors, hence the importance of patch testing in the investigation of its cause. Alongside adequate photoprotection, a combination treatment of 1,064 nm Q-switched neodymium-doped yttrium aluminum garnet (Nd:YAG) laser, 20% tricholoacetic acid (TCA) peel and oral retinoids, were found safe and effective in the management of facial melanosis. Three-dimensional imaging and dermoscopy were utilized to obtain a more standard and objective pre- and post-treatment comparison.
Lasers, Solid-State ; Patch Tests ; Melanosis ; Skin Abnormalities ; Dermatitis, Contact

Primary malignant melanoma (PMM) of the gastrointestinal tract is rare. Reported cases of PMM of the lower gastrointestinal tract typically describe anal and rectal involvement rather than colonic lesions. This report describes a rare case of a 50-year-old woman with PMM originating in the colon. The patient presented to Inje University Busan Paik Hospital with a 3-day history of blood-tinged stools. She underwent colonoscopy for a diagnosis of hematochezia. The colonoscopic examination revealed a large-sized semi-pedunculated sigmoid colon polyp with a reddish-colored mucosal surface. Endoscopic mucosal resection was performed, and the final histopathological findings were consistent with a diagnosis of malignant melanoma. Systemic work-up was performed for assessment of metastasis and to identify the primary tumor considering the high metastatic rate of gastrointestinal malignant melanoma; however, no other malignant lesion was detected. Thus, she was diagnosed with colonic PMM. She underwent laparoscopic low anterior resection and lymph node dissection and has been recurrence-free for > 2 years.
Busan ; Colon ; Colon, Sigmoid ; Colonoscopy ; Diagnosis ; Female ; Gastrointestinal Hemorrhage ; Gastrointestinal Tract ; Humans ; Lower Gastrointestinal Tract ; Lymph Node Excision ; Melanoma ; Melanosis ; Middle Aged ; Neoplasm Metastasis ; Polyps

Adenocarcinoma of the cervix is less common than squamous cell carcinoma. Minimal deviation adenocarcinoma (adenoma malignum) is considered an extremely well-differentiated variant of GAS. An association exists between GAS and Peutz-Jeghers syndrome, which is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation and multiple hamartomatous polyps in the gastrointestinal tracts. The incidence of GAS in patients with Peutz-Jeghers syndrome is estimated to be 11–17%. We present a rare case of adenoma malignum, diagnosed using colposcopic biopsy in a woman with Peutz-Jeghers syndrome, which was histopathologically confirmed to be GAS after surgery.
Adenocarcinoma ; Adenocarcinoma, Mucinous ; Adenoma ; Biopsy ; Carcinoma, Squamous Cell ; Cervix Uteri ; Female ; Gastrointestinal Tract ; Humans ; Incidence ; Mucins ; Peutz-Jeghers Syndrome ; Pigmentation ; Polyps ; Uterine Cervical Neoplasms