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

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

OBJECTIVE: To explore the therapeutic effect and mechanism of acupoint catgut embedding for chloasma in premenopausal women with liver stagnation. METHODS: A total of 92 patients of chloasma in premenopausal women with liver stagnation were randomized into an observation group and a control group, 46 cases in each one.In the observation group, acupoint catgut embedding was applied at Ganshu (BL 18), Pishu (BL 20), Sanyinjiao (SP 6), also the surrounding acupuncture was performed at facial part, once a week. In the control group, vitamin C (200 mg per time, 3 times a day) and vitamin E (100 mg per time, once a day) were prescribed for oral administration. Both of the two groups were given treatment for 12 weeks. The score of chloasma area and severity index (MASI), the serum levels of follicular stimulating hormone (FSH), leuteinizing hormone (LH) and estradiol (E) before and after treatment were observed in the two groups, and the clinical effect of the two groups were compared after 3 months of treatment. RESULTS: Finally, 44 cases in the observation group and 43 cases in the control group completed the study. The effective rate in the observation group was 88.6% (39/44), which was higher than 55.8% (24/43) in the control group (<0.01). Compared before treatment, the MASI scores after treatment were reduced in the two groups (<0.01, <0.05), the MASI score in follow-up in the observation group was reduced as compared with after treatment (<0.01), and the MASI scores after treatment and in follow-up in the observation group were lower than the control group (<0.01). Compared before treatment, the levels of FSH and LH in follow-up were reduced (<0.01), there was no significant difference between before treatment and in follow-up in the level of E in the observation group (>0.05). There was no significant difference between before treatment and in follow-up in the levels of FSH, LH and E in the control group (>0.05). In follow-up, the levels of FSH and LH in the observation group were lower than the control group (<0.01, <0.05), there was no significant difference in the level of E between the two groups (>0.05). CONCLUSION Acupoint catgut embedding can improve the clinical symptoms of chloasma in premenopausal women with liver stagnation, the mechanism may be related to regulate the serum level of sex hormone to reduce high sensitivity of melanocytes to estrogen.
Acupuncture Points ; Acupuncture Therapy ; Catgut ; Female ; Humans ; Liver ; Melanosis ; therapy ; Qi

OBJECTIVE: To screen for pathogenic variants in the coding regions of STK11 gene among Chinese patients with Peutz-Jeghers syndrome (PJS). METHODS: Peripheral blood samples were collected from 64 patients. The coding regions of the STK11 gene were detected by PCR and Sanger sequencing. RESULTS: Fourty-eight patients were found to harbor STK11 gene variants, which included 39 types of variants consisting of missense, nonsense, insertional, deletional and splice site variants. Among 64 PJS patients, the detection rate of point variants was 75.00% (48/64), of which missense variants accounted for 29.17% (14/48), nonsense variants accounted for 29.17%(14/48), insertion variants accounted for 2.08% (1/48), deletional variants accounted for 10.42% (5/48), and splice site variants accounted for 29.17% (14/48). The detection rates of sporadic cases and those with a family history were 71.8% (28/39) and 80.0% (20/25), respectively. Two variants (c.250A>T, c.580G>A) occurred in 3 PJS probands. Thirteen variants were unreported previously and were considered to be pathogenic. CONCLUSION The detection rate of variants among Chinese PJS patients is similar to that of other countries. A number of novel common variant sites were discovered, which enriched the spectrum of PJS-related variants.
Asian Continental Ancestry Group ; China ; DNA Mutational Analysis ; Humans ; Peutz-Jeghers Syndrome ; genetics ; Protein-Serine-Threonine Kinases ; genetics

Segmental neurofibromatosis, a subtype of neurofibromatosis type 1, is characterized by neurofibromas and/or café-au-lait spots limited to an area or segment of the body. Checkerboard pattern is a rare type of cutaneous mosaic manifestation, characterized by squares or broad ribbons of affected skin with sharp demarcation at the midline. Herein, we report the case of a patient with bilateral segmental neurofibromatosis with lentiginosis showing a checkerboard pattern. Our patient had multiple hyperpigmented macules on her entire body in a checkerboard pattern since birth. Several café-au-lait patches were observed on the left buttock and right axilla. A neurofibroma was incidentally found beneath the café-au-lait patch by histological examination, which showed ill-defined spindle cells with elongated nuclei at the deep dermis that stained positive for S-100. Based on the clinical presentation and histopathologic results, the patient was diagnosed with bilateral segmental neurofibromatosis with lentiginosis showing a checkerboard pattern.
Axilla ; Body Patterning ; Buttocks ; Dermis ; Humans ; Lentigo ; Neurofibroma ; Neurofibromatoses ; Neurofibromatosis 1 ; Parturition ; Skin