Extensive Extragenital Lichen Sclerosus-Like Lesions in a Patient with Junctional Epidermolysis Bullosa.

Epidermolysis bullosa (EB) is a heterogeneous group of genetic disorders characterized by the formation of blisters either spontaneously or at the sites of trauma. These heal with post-inflammatory hypopigmentation, scarring, or milia formation. We hereby present a child who presented with widespread hypopigmented atrophic areas, blistering at trauma-prone sites, and nail dystrophy. The significance of this particular case lies in the challenge of distinguishing between epidermolysis bullosa and bullous extragenital lichen sclerosus et atrophicus.

Molecular profiling of an Indian EB cohort - a single centre experience.

INTRODUCTION: Epidermolysis bullosa (EB) encompasses rare hereditary skin conditions marked by skin fragility, nail dystrophy, and minor trauma-induced skin blisters. This study aims to identify genetic variants in Indian EB patients and examine the relationship between genotypic and phenotypic manifestations. MATERIAL AND METHOD: EB patients seen consecutively over a period of 5 years at Outpatient Department of Dermatology. Baseline demographic data, birth history, family history, skin manifestation at birth, past medical history, current cutaneous manifestations, and the evolution of the disease were assessed and recorded. Genetic variants were identified using targeted gene panel sequencing of 23 EB-related genes, and a genetic-phenotype analysis was performed. RESULTS: Our study included 65 patients with EB. Among 65 EB patients, 38 dystrophic EB cases (58.46%), 12 junctional EB (18.46%), 12 epidermolysis bullosa simplex (18.46%), and 3 Kindler EB (4.62%) were reported. Dominant and recessive forms of dystrophic EB accounted for 16.92% and 41.4%, respectively. We identified 75 unique genetic variants, 58.67% newly discovered and 41.33% previously reported. Compound heterozygous variations were more frequent (55.55%) than homozygous ones (44.44%) in recessive dystrophic EB patients. Junctional EB patients harboured LAMB3 gene mutations more frequently, while epidermolysis bullosa simplex patients showed KRT5 and KRT14 gene missense heterozygous mutations. Kindler EB patients had homozygous mutations in the FERTM1 gene. CONCLUSION: Our study unveiled several novel genetic variants; severe phenotypes associated with nonsense genetic variants. These findings offer valuable insights for future clinical assessments and tailored management strategies.

Giant Genital Mass: Unveiling a Unique Case of Folliculocystic and Collagen Hamartoma.

Folliculocystic and collagen hamartoma (FCCH) is a rare entity, typically documented in males with tuberous sclerosis complex. Here, we report a unique case of FCCH in a 19-year-old female with an unusual presentation in the external genitalia. The patient presented with a progressively enlarging mass over three years, causing difficulties in walking and sitting. Examination revealed a 10 x 15 cm tender, lobulated, skin-colored tumor with comedo-like openings originating from the right labium majus, with satellite lesions on both labia majora. She had no other symptoms or history suggestive of tuberous sclerosis. Histopathological examination showed dilated hair follicles with keratin, perifollicular fibrosis, and thick dermal collagen bands extending into subcutaneous tissue, confirming FCCH. This case underscores the importance of considering FCCH in the differential diagnosis of genital masses, even without classical clinical associations. Our findings contribute to the limited literature on FCCH and highlight the need for further exploration and awareness within the medical community.

Wild Edible Flowers of Western Himalayas: Nutritional Characterization, UHPLC-QTOF-IMS-Based Phytochemical Profiling, Antioxidant Properties, and In Vitro Bioaccessibility of Polyphenols.

Four edible flowers commonly consumed in the Western Himalayan region, namely, Bauhinia variegata (Kachnar), Tropaeolum majus (Nasturtium), Matricaria chamomilla (Chamomile), and Tagetes erecta (Marigold), were characterized for their nutritional and phytochemical composition. Through the UHPLC-QTOF-IMS-based metabolomics approach, 131 compounds were tentatively identified consisting of phenolic acids, flavonoid glycosides, terpenoids, amino acids, and fatty acid derivatives. Kaempferol and quercetin glycosides for Kachnar, apigenin glycosides and caffeoylquinic acid derivatives for Chamomile, patulin and quercetin derivatives for Marigold, cyanidin and delphinidin glycosides for Nasturtium were the predicted marker metabolites identified through non-targeted metabolomics. Kachnar and Chamomile scored best in terms of macronutrients and essential micronutrients, respectively. Nasturtium contained high concentrations of α-linolenic acid, anthocyanins, and lutein. Kachnar contained the highest total phenolic acids (63.36 ± 0.38 mg GAE g-1), while Marigold contained the highest total flavonoids (118.90 ± 1.30 mg QUE g-1). Marigolds possessed excellent free radical scavenging and metal chelation activities. Chamomile exhibited strong α-glucosidase inhibition activity, followed by Nasturtium. The in vitro gastrointestinal digestibility of flower extracts indicated that the bioaccessibility of phenolic acids was higher than that of flavonoids. Polyphenols from Nasturtium and Chamomile showed the highest bioaccessibility. The study is an attempt to characterize traditionally consumed edible flowers and promote their wider utilization in gastronomy and nutraceuticals.

Outcome of transcanalicular laser dacryocystorhinostomy with endonasal augmentation in acute versus post-acute dacryocystitis.

OBJECTIVE: To study the outcomes of transcanalicular laser dacryocystorhinostomy (TCL-DCR) with endonasal augmentation in acute versus post-acute dacryocystitis and compare it with external DCR in post-acute settings. METHODS: A prospective, randomised study was conducted in 90 adult cases of Acute dacryocystitis. All the patients were started on systemic antibiotics and a 4 mm × 4 mm osteotomy was created using TCL-DCR. The osteotomy was enlarged to 8 mm × 8 mm by endonasal augmentation at the same sitting in group 1, after 10 days in group 2 and after 10 days with external DCR in group 3. The cases were assessed for symptomatic relief and complications. Success was defined as functional and anatomical patency at 36 months. RESULTS: The mean age was 45.33 ± 15.06 years and the male: female ratio was 1:2. The presenting complaints were painful swelling (100%), epiphora or discharge (88.8%), fistula (33%) and fever (6%). The average number of acute episodes was 2.96. The intra-group pain reduction from day 1 to day 4, was significant in all three groups (p = 0.000). Intra-operative (p = 0.015, χ2 = 8.37) and post-operative complications (p = 0.002, χ2 = 0.002) were higher in group. Anatomical success was achieved in all the three groups, however, the functional success in Group 3, Group 2 and Group 1 was 100%, 86.7% and 66.7% respectively (p = 0.002, χ2 = 12.86). CONCLUSIONS: The creation of osteotomy using TCL-DCR provides early relief in symptoms. Single-stage surgery in inflamed tissues is associated with higher complication rates. External DCR in post-acute settings gives the best outcomes with minimal complications, endoscopic augmentation requires a close follow-up.