Self-reported clinical features and treatment effectiveness of Papillon-Lefèvre syndrome patients from five Latin American countries: A cross-sectional online survey study.

BACKGROUND/OBJECTIVES: Most studies about Papillon-Lefèvre syndrome (PLS) are limited to case reports and patients of the same nationality. This study aimed to determine the self-reported prevalence of signs, symptoms and treatment effectiveness in PLS patients from five Latin American countries. METHODS: An online survey was conducted among adult and paediatric patients from Mexico, Argentina, Colombia and Brazil. Data were collected using multiple-choice, open-ended and image-chooser questions on demographics, signs and symptoms, perceived treatment effectiveness and quality of life. RESULTS: Seventeen patients (10 males and 7 females) aged 4-47 years were surveyed. All had palmoplantar hyperkeratosis. Other affected sites were the feet and hand dorsum (82.35%), Achilles tendon (88.24%), forearms (58.82%), legs (29.41%) and glutes (23.53%). They frequently presented hyperhidrosis and nail pitting. Four had a history of delayed umbilical cord separation. All used topical treatments, with moderate effectiveness; half used oral retinoids, perceived as highly effective. Most reported decreased quality of life and walking difficulties. CONCLUSIONS: The study's results align with prior research on PLS, but reveal new insights, including the impact on patients' quality of life and a history of delayed umbilical cord separation. These findings warrant consideration in future research and patient care.

Color Doppler Ultrasound Assessment of Subclinical Activity With Scoring of Morphea.

BACKGROUND: Detection of activity in morphea is paramount for adequately managing the disease. Subclinical ultrasound involvement on inactive lesions or healthy skin areas adjacent to morphea has not been described to date. OBJECTIVES: The study aimed to detect morphea's subclinical activity by Color Doppler ultrasound not identified with the clinical scorings. MATERIALS & METHODS: This cross-sectional retrospective study was done from January 2014 to July 2019 in patients with a clinicopathological diagnosis of morphea. The modified Localized Scleroderma Skin Severity Index (mLoSSI) and The Ultrasound Morphea Activity Score (US-MAS) were used to correlate clinical and subclinical activity. RESULTS: A total of 36 patients met the inclusion criteria. 54% of cases presented subclinical activity in areas adjacent to the clinically active lesion, 23% in nonadjacent regions, and 23% demonstrated activity at a clinically inactive lesion site.100% of patients with morphea "en coup de sabre" involving the frontal region of the face concomitantly presented both subclinical activities of morphea on the frontal facial region and the scalp following the same axis.A positive relationship was observed between the degree of clinical activity measured by mLoSSI and US-MAS scoring.The main limitations of our study were the low number of patients and the inability to detect alterations < 0.1 mm. CONCLUSIONS: Subclinical activity is frequent in morphea, can extend beyond the lesional areas, including apparently noninvolved adjacent and distant corporal regions, and can be detected by color Doppler ultrasound.

Sun Sign in the Ultrasound Diagnosis and Activity Assessment of Morphea.

Morphea, a localized form of scleroderma, is a chronic inflammatory autoimmune disease of the skin. Color Doppler Ultrasound has been reported as a reliable tool to assess the activity of the disease. With histologically confirmed cases, this case series describes a new ultrasound sign consisting of a hyperechoic halo surrounding superficial subcutaneous veins of the extremities in transverse view, named the sun sign. This sign can help diagnose morphea in the inflammatory phase and correlate in pathology with perivascular infiltrates surrounding superficial subcutaneous veins.

Ultrasonographic Subclinical Signs of Inflammation of the Lacrimal, Parotid, and Submandibular Glands in Users of Cosmetic Fillers.

OBJECTIVES: To detect ultrasonographic inflammatory signs in the lacrimal, parotid, and submandibular glands in cosmetic fillers (CFs) users. METHODS: A prospective and cross-sectional ultrasound study of the glands in cases with CFs was performed. The sample included users of hyaluronic acid, silicone oil, polymethylmethacrylate, polycaprolactone, calcium hydroxyapatite, and polyacrylamide. Abnormalities of the parenchyma and hypervascularity signs of the glands were compared with a control group (n = 10), evaluated by 2 observers, and correlated with the type, number, and location of the facial CFs. Cohen's kappa test and logistic regression models with odds ratios (OR) adjusted by age with 95% CI were performed. RESULTS: Sixty-three patients with CFs met the criteria. Parotid and submandibular glands had the highest percentage of parenchymal involvement: 87.3 and 88.9%, respectively (p <.01). Abnormalities of the echostructure of the parenchyma and hypervascularity of the glands were detected with all kinds of fillers without significant differences per type. A significant substantial interrater kappa (0.61) with an agreement of 90% for all glands among observers was found. CONCLUSION: Users of common types of CFs frequently present subclinical ultrasonographic signs of inflammation of the lacrimal, parotid, and submandibular glands. Further research on the topic seems necessary.

Melanocytic BAP-1-Mutated Atypical Intradermal Tumor in Two Siblings: A Case Report.

Melanocytic BAP-1-mutated atypical intradermal tumor (MBAIT) is a tumor that appears early on life. It can be the first manifestation of a tumor predisposition syndrome. Prompt diagnosis will allow for the implementation of early screening techniques for associated malignancies. We present a case of 2 siblings with MBAITs and their future management.