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.

Cutaneous Inflammatory Manifestations of Chronic Granulomatous Disease.

This cross-sectional study examines cutaneous inflammatory presentations of chronic granulomatous disease.

Conventional suspension delivery versus tattooing pen-assisted suspension delivery in non-cultured epidermal cell suspension procedure for vitiligo: A randomized controlled trial.

Non-cultured epidermal suspension (NCES) is one of the most widely used surgical therapy for stable vitiligo patients in which recipient size preparation plays an important role in the outcome of NCES. The primary objective is to evaluate and compare the efficacy and safety of conventional suspension delivery after manual dermabrasion (CSMD) versus tattooing pen-assisted suspension delivery (TPSD) in NCES. Paired vitiligo units (VU) in 36 patients, matched with respect to size and location were divided into two groups. The VU in Group 1 underwent suspension delivery by CSMD while the VU in Group 2 underwent same by TPSD. All the VU were followed up at regular intervals until 24 weeks. At the end of 24 weeks, 31 VU (86.1%) in Group 1 achieved >75% repigmentation which was significantly higher (p = .02, chi-square test) as compared to 22 VU (61.1%) in Group 2. The color matching in both the groups VU was also comparable (p = .84, chi-square test). The patient global assessment (PGA) was significantly higher in Group 1 VU as compared to Group 2. Treatment response in terms of repigmentation and PGA was significantly better in VU treated with CSMD as compared to TPSD. Recipient site complications were seen more commonly in Group 1 VU as compared to Group 2. Perilesional halo at the recipient site was seen in none of the VU in Group 2 which was significantly lower than 6 VU in Group 1 than (p = .02, chi-square test). Better results may be possible with technical improvisations in tattooing pen needle diameter and depth of penetration.

Midfacial Toddler Excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.

BACKGROUND: PRDM12 polyalanine tract expansions cause two different disorders; Midfacial Toddler Excoriation Syndrome (MiTES) - itch with normal pain sensation associated with homozygous 18 alanines (18A), and congenital insensitivity to pain (CIP) with normal itch with homozygous 19A. Knowledge of the phenotype, genotype, and disease mechanism of MiTES is incomplete. Why PRDM12 18A versus 19A can cause almost opposite phenotypes is unknown; no other poly-alanine or poly-glutamine tract expansion disease causes two such disparate phenotypes. METHODS: We assessed the genotype and phenotype of 9 new, 9 atypical, and 6 previously reported patients diagnosed with MiTES. Using cell lines with homozygous PRDM12 of 12A (normal), 18A (MiTES) and 19A (CIP) we examined PRDM12 aggregation and subcellular localisation by image separation confocal microscopy and sub-cellular fractionation western blotting. RESULTS: MiTES presents in the first year of life, and in all cases the condition regresses over the first decade leaving scarring. The MiTES phenotype is highly distinctive. Features overlapping with PRDM12-CIP are rarely found. The genotype-phenotype study of PRDM12 polyalanine tract shows that 7A -15A are normal; 16A -18A are associated with MiTES; 19A leads to CIP; and no clinically atypical MiTES cases had an expansion. PRDM12 aggregation and sub-cellular localisation differ significantly between 18A and normal 12A cell lines and between 18A and 19A cell lines. MiTES is a new protein aggregation disease. CONCLUSION: We provide diagnostic criteria for MiTES, and improved longitudinal data. MiTES and CIP are distinct phenotypes despite their genotypes varying by a single alanine in the PRDM12 polyalanine tract. We found clear distinctions between the cellular phenotypes of normal, MiTES and CIP cells.. We hypothesise that the developmental environment of the trigeminal ganglion is unique and critically sensitive to prenatal and postnatal levels of PRDM12.

Dermatoscopic evaluation of leprosy: A multi-centre cross-sectional study.

Background Leprosy is known to be a great mimicker. Its dermatoscopic evaluation may be of value in establishing diagnosis. Objective To study the dermatoscopic findings encountered across the leprosy spectrum. Methods This was a multi-centre cross-sectional study of leprosy patients, where after a thorough cutaneous and neurological evaluation, representative skin lesions from the study patients were photographed in standard settings, and the most representative skin lesions were chosen for dermatoscopic evaluation. Data was entered in a structured proforma and a descriptive analysis of dermatoscopic patterns was carried out. Results A total of 53 cases of ages between 14 and 80 years, ranging from tuberculoid to the lepromatous spectrum of disease, with active skin lesions in the form of patches and plaques were included. The spectrum of leprosy as per Ridley-Jopling classification at diagnosis was indeterminate in 1 (1.9%), tuberculoid in 1 (1.9%), borderline tuberculoid in 25 (21.5%), borderline lepromatous in 9 (17%), lepromatous in 14 (26.4%) and histoid in 3 (5.7%). Dermatoscopic features included distorted pigment network in 48 (90.6%), focal white areas in 40 (75.5%), reduced eccrine and follicular openings in 43 (81.1%), widened skin lines in 28 (52.8%), circle hairs in 15 (28.3%) and white shiny streaks in 17 (32.1%). Conclusion Dermatoscopy is a practical, non-invasive device to assess skin lesions of leprosy and provide cues to its diagnosis, spectral classification and differentiating it from other granulomatous disorders. However, dermatoscopy alone cannot reliably differentiate between the various types of leprosy and future large-scale studies are required. Limitations of the study The numbers for each subtype were variable and few in some spectrum of leprosy patients. A dermatoscopic-histologic correlation was not done.

Symmetrical plaques on the dorsum of hands - a clinicopathological challenge.

A 60-year-old female with diabetes and hypothyroidism presented with a 2-year history of asymptomatic elevated lesions on the dorsum of her hands.

Whole-body and targeted narrowband ultraviolet B phototherapy effectively stabilize acral vitiligo with negligible repigmentation beyond wrists and ankles: Results from a split-body randomized controlled trial.

BACKGROUND: Narrowband ultraviolet B (NB-UVB) phototherapy promotes stability and repigmentation in vitiligo. No studies have compared targeted NB-UVB with whole-body NB-UVB in treatment of acral vitiligo. OBJECTIVES: This randomized split-body study compared whole-body NB-UVB with targeted NB-UVB in inducing stability and repigmentation in acral vitiligo. METHODS: Thirty-two patients with bilaterally symmetrical acral vitiligo lesions (distal to elbows and knees) were recruited. Patients received whole-body NB-UVB treatment, with one hand and one foot shielded until elbow and knee, followed by targeted NB-UVB treatment on the shielded side. Patients were assessed at 4-week intervals for 24 weeks using Vitiligo Disease Activity (VIDA) score, Vitiligo Skin Activity Score (VSAS), Vitiligo Area Scoring Index (determined through fingertip method, using the method to calculate facial-VASI) and degree of repigmentation. RESULTS: After 12 weeks, 87.5% of patients achieved a VIDA score of 3, with none having active disease at 24 weeks. Over 50% repigmentation was observed in 42.2% and 37.5% of limbs in whole-body and targeted groups, respectively (p = .95). No improvement in F-VASI scores of hands and feet (distal to wrist and ankles) was noted with either modality over the 24-week period. CONCLUSION: Our study showed comparable repigmentation rates between whole-body and targeted NB-UVB groups. Limited effectiveness of phototherapy in repigmentation of hands and feet underscores an important therapeutic gap.

A prospective observational study correlating possible novel biomarkers with disease severity and antihistamine response in chronic spontaneous urticaria.

Background: Role of complement fraction 5a (C5a), interleukin (IL)-9, and apolipoprotein (apo) A-IV as biomarkers of disease severity and antihistamine response in chronic spontaneous urticaria (CSU) remains elusive. Objective: To identify the role of C5a, IL-9, and apo A-IV as potential biomarkers in predicting disease severity and antihistamine response in CSU patients. Methods: This was a prospective observational study of 95 patients and 42 controls. Serum analysis of C5a, IL-9, and apo A-IV was done using enyzme linked immunosorbent assay kits. Also, serum IgE and anti-thyroid peroxidase (TPO) levels were assessed in all patients. All patients were started on oral levocetirizine 5 mg at baseline and dose was titrated upwards to maximum of 20 mg based on response. Patients were categorized into antihistamine responders or nonresponders as per their disease response. Serological markers, serum IgE, and anti-TPO were correlated with baseline disease severity and antihistamine response. Results: C5a levels were significantly higher in cases as compared to controls (P = 0.004). Significantly higher IL-9 levels were observed in antihistamine responders than nonresponders (P = 0.008). Baseline urticaria severity demonstrated a statistically significant positive and negative correlations with IL-9 (ρ = 0.277, P = 0.007) and apo A-IV (ρ = -0.271, P = 0.008) levels, respectively. Levels of serum IgE (P = 0.031) and anti-TPO (P = 0.039) were significantly higher in antihistamine nonresponders compared to responders. Conclusions: IL-9 and apo A-IV might be potential novel biomarkers to predict urticaria severity. Higher IL-9 might be a predictor of antihistamine response. Elevated anti-TPO and serum IgE might predict poor antihistamine response.