Low rates of neurological abnormalities in patients with pigmentary mosaicism: A retrospective cohort study from a tertiary dermatology center.

BACKGROUND: Pigmentary mosaicism (PM) is a descriptive term encompassing a range of hyper- and hypo-pigmented phenotypes in various patterns. Information from the neurology literature initially noted neurological abnormalities (NA) in up to 90% of children with PM. The dermatology literature suggests lower associated rates (15%-30%) of NA. Variations in terminology, inclusion criteria, and small population sizes makes interpreting existing PM literature complicated. We aimed to assess rates of NA in children presenting to dermatology with PM. METHODS: We included patients <19 years, diagnosed with PM, nevus depigmentosus and/or segmental café au lait macules (CALM) seen in our dermatology department between 1 January 2006 and 31 December 2020. Patients with neurofibromatosis, McCune-Albright syndrome, and non-segmental CALM were excluded. Data collected included pigmentation, pattern, site(s) affected, presence of seizures, developmental delay, and microcephaly. RESULTS: One hundred fifty patients were included (49.3% female), with a mean age at diagnosis of 4.27 years. Patterns of mosaicism were ascertained for 149 patients and included blaschkolinear (60/149, 40.3%), blocklike (79/149, 53.0%), or a combination of both patterns (10/149, 6.7%). Patients with a combination of patterns were more likely to have NA (p < .01). Overall, 22/149 (14.8%) had NA. Nine out of twenty-two patients with NA had hypopigmented blaschkolinear lesions (40.9%). Patients with ≥4 body sites affected were more likely to have NA (p < .01). DISCUSSION: Overall, our population had low rates of NA in PM patients. A combination of blaschkolinear and blocklike patterns, or ≥4 body sites involved were associated with higher rates of NA.

Paraneoplastic pemphigus associated with Castleman disease: A multicenter case series.

INTRODUCTION: Paraneoplastic pemphigus (PNP) is a rare, often fatal, autoimmune blistering disease of the skin and mucous membranes. In children, PNP is frequently associated with Castleman disease (CD). This series describes five cases of PNP associated with CD. METHODS: Data were collected retrospectively from the medical records of patients with a diagnosis of PNP and CD from January 2013 to June 2022. Patients ≤22 years old with clinical and immunopathologic evidence of PNP were included; CD was diagnosed histopathologically. RESULTS: Two children, two adolescents, and one young adult (two males, three females) were included. The average age at disease presentation was 11.8 years (range: 7-22 years). Oral (n = 5) and anogenital (n = 3) mucositis were common. Four patients had "unicentric" CD (UCD); one patient had "multicentric" CD (MCD). Castleman tumors were in the retroperitoneum (n = 4) or axilla (n = 1). One patient had myasthenia gravis without thymoma. Three patients had bronchiolitis obliterans (BO). Three patients had complete resection of their CD; two had partial resection. Three patients remain alive with a median follow-up of 13 months (range: 12 months to 13 years); two are clinically stable with resolution of mucocutaneous lesions; one has persistent BO requiring ongoing ventilatory support. Patients who remain alive had UCD with complete resection; all deceased patients had partial resection and BO. CONCLUSION: Most patients had UCD, and the retroperitoneum was the most common location. Patients with MCD, incomplete resection, and BO died; patients with UCD and complete resection remain alive, even in the setting of BO. Consideration of PNP is critical when pediatric patients present with mucositis as PNP may be clinically indistinguishable from more common causes of mucositis.

Clinical features and treatment outcomes for primary cutaneous CD4+ small/medium T-cell lymphoproliferative disorder: a retrospective cohort study from the Dana-Farber Cancer Institute and updated literature review.

Primary cutaneous CD4+ small/medium T-cell lymphoproliferative disorder (PCSM-TCLPD) was reclassified in 2016 as a rare benign entity with an excellent prognosis, yet its clinical features and best treatments remain poorly defined. We collected clinical data, treatments, and treatment-responses from our institution's patients with PCSM-TCLPD through September 2018 and an identical PubMed review through June 2021. Among 36 cases (median-age 54 years; 58.3% head/neck), diagnostic biopsy resulted in sustained complete remission (CR) in 13/33 punch/shave biopsies and 3/3 excisional biopsies. The remaining 20 patients further required topical corticosteroids (n = 5); intralesional corticosteroids (n = 1); surgical-excision (n = 5); electron-beam-radiation (n = 6); or brachytherapy (n = 3). All patients ultimately achieved CR, excluding one patient continuing treatment at end-of-study. 57/59 (96.6%) of institutional and literature-reported radiation-treated patients experienced CR. No institutional cases progressed beyond skin; 5/209 (2.4%) literature-reported cases progressed to systemic/extracutaneous involvement, all pre-reclassification. PCSM-TCLPD responds well to local-directed therapy including radiation, and only rarely if ever progresses.

Central nervous system magnetic resonance imaging abnormalities and neurologic outcomes in pediatric patients with congenital nevi: A 10-year multi-institutional retrospective study.

BACKGROUND: High-risk congenital melanocytic nevi (CMN) are associated with abnormalities of the central nervous system (CNS), prompting magnetic resonance imaging (MRI) screening guidelines. OBJECTIVE: Describe MRI brain and spine abnormalities in children with CMN and report trends between nevus features, MRI findings, and neurologic outcomes. METHODS: Retrospective review of individuals aged ≤18 years with an MRI of the brain and/or spine and at least 1 dermatologist-diagnosed CMN. RESULTS: Three hundred fifty-two patients were identified. Forty-six children had CMN that prompted an MRI of the brain and/or spine (50% male, average age at first image, 354.8 days). In these children, 8 (17%) had melanin detected in the CNS, of whom all had >4 CMN. One developed brain melanoma (fatal). In patients without CNS melanin, 4 had concerning imaging. Concerning MRI patients had more neurodevelopmental problems, seizures, neurosurgery, and death than individuals with unremarkable imaging. Three hundred six patients received MRIs for other reasons; none detected melanin. No children with only multiple small CMN (n = 15) had concerning imaging. LIMITATIONS: Lack of a control group, cohort size, and retrospective methods. CONCLUSION: MRI of the brain and spine is useful for detecting intervenable abnormalities in high-risk children. Healthy infants with few small CMN may not require screening MRI.

Primary cutaneous CD4+ small/medium T-cell lymphoproliferative disorder in children: A case report and review of the literature.

Primary cutaneous CD4+ small/medium T-cell lymphoproliferative disorder (PCSM-TCLPD) is a rare benign lymphoproliferative disorder, recently redefined by the 2016 World Health Organization classification of lymphoid neoplasms. In adults, PCSM-TCLPD responds well to monotherapy with surgical excision or local radiation, with or without topical/injected corticosteroids; in contrast, PCSM-TCLPD has only rarely been reported in children, in whom treatments favored in adults may be non-optimal. We present a 14-year-old male with PCSM-TCLPD on the forehead, who achieved complete remission following biopsy, topical corticosteroids, and surgical excision. We also review all literature-reported cases of pediatric PCSM-TCLPD, emphasizing the disorder's benign nature and treatment responsiveness in children.

Donut rush to laparoscopy: post-polypectomy electrocoagulation syndrome and the 'pseudo-donut' sign.

Colonoscopic polypectomy is a routine procedure with the potential for rare but well-known complications, including perforation and bleeding. Post-polypectomy electrocoagulation syndrome (PPES) is a less recognized cause of abdominal pain following this procedure. However, it is important to diagnose PPES in order to avoid unnecessary intervention. We present the case of a patient with abdominal pain after polypectomy. The patient underwent an unnecessary diagnostic laparoscopy on the basis of misinterpreted radiological findings. Her CT scan demonstrated the "donut" sign that was suggestive of ileocaecal intussusception. This case highlights the importance of recognizing PPES as a possible cause for abdominal pain after colonoscopic polypectomy and that it may also present with a "pseudodonut" sign on CT scan. It also demonstrates the importance of communicating and then integrating full clinical details with radiological findings when formulating a differential diagnosis.

Effects of Glucagon-like Peptide-1 on the Reproductive Axis in Healthy Men.

CONTEXT: Glucagon-like peptide-1 (GLP-1) potently reduces food intake and augments glucose-stimulated insulin secretion. Recent animal data suggest that GLP-1 may also influence reproduction. As GLP-1 receptor agonists are currently widely used in clinical practice to treat obesity/type 2 diabetes, it is necessary to determine the effects of GLP-1 on the reproductive system in humans. OBJECTIVE: To investigate the effects of GLP-1 administration on the reproductive axis in humans. DESIGN: Single-blind, randomized, placebo-controlled crossover study. SETTING: Clinical Research Facility, Imperial College Healthcare NHS Trust. PARTICIPANTS: Eighteen healthy men (mean age 24.7 ± 0.1years, mean BMI 22.1 ± 0.4kg/m2). INTERVENTION: Eight-hour intravenous infusion of 0.8 pmol/kg/min GLP-1 or rate-matched vehicle infusion. MAIN OUTCOME MEASURES: Number of luteinizing hormone (LH) pulses, LH, follicle-stimulating hormone (FSH), and testosterone levels. RESULTS: The number of LH pulses (number of LH pulses/500 min: vehicle 4.2 ± 0.4, GLP-1 4.5 ± 0.3, P = 0.46), LH area under the curve (AUC) (vehicle 1518 ± 88min.IU/L, GLP-1 1524 ± 101min.IU/L, P = 0.95), follicle-stimulating hormone AUC (vehicle 1210 ± 112 min IU/L, GLP-1 1216 ± 112 min IU/L, P = 0.86), and testosterone AUC (vehicle 10893 ± 615 min nmol/L, GLP-1 11088 ± 792 min nmol/L, P = 0.77) did not significantly differ during vehicle and GLP-1 administration. Glucagon-like peptide-1 significantly reduced food intake (vehicle 15.7 ± 1.3 kcal/kg, GLP-1 13.4 ± 1.3 kcal/kg, P = 0.01). CONCLUSIONS: In contrast to the animal literature, our data demonstrate that acute GLP-1 administration does not affect reproductive hormone secretion in healthy men.

Effects of Peptide YY on the Hypothalamic-Pituitary-Gonadal Axis in Healthy Men.

CONTEXT: Central and peripheral administration of peptide YY (PYY) has potent anorectic effects, and PYY analogs are under development as antiobesity treatments. Recent animal data suggest PYY may also influence the reproductive axis; however the effects of PYY on the human reproductive system are unknown. OBJECTIVE: To investigate the effects of PYY administration on the reproductive axis in healthy young men. DESIGN: Single-blind, randomized, placebo-controlled crossover study. SETTING: Clinical Research Facility, Imperial College Healthcare NHS Trust. PARTICIPANTS: Eighteen healthy eugonadal men (mean age 24.1 ± 0.9 years, mean body mass index 22.2 ± 0.4 kg/m2). INTERVENTION: Eight-hour intravenous infusion of 0.4 pmol/kg/min PYY3-36 or rate-matched vehicle infusion. MAIN OUTCOME MEASURES: Number of luteinizing hormone (LH) pulses, LH, follicle stimulating hormone (FSH), and testosterone levels. RESULTS: The number of LH pulses (mean number of LH pulses/8 hours: PYY 4.4 ± 0.3 vs vehicle 4.4 ± 0.4, P > .99), LH area under the curve (AUC) (PYY 1503 ± 79 IU.min/L vs vehicle 1574 ± 86 IU.min/L, P = .36), FSH AUC (PYY 1158 ± 513 IU.min/L vs vehicle 1199 ± 476 IU.min/L, P = .49) and testosterone AUC (PYY 10 485 ± 684 IU.min/L vs vehicle 11 133 ± 803 IU.min/L, P = .24) were similar during PYY and vehicle infusions. CONCLUSIONS: Acute intravenous infusion of 0.4 pmol/kg/min PYY does not affect the reproductive axis in healthy men.

Atypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation-arteriovenous malformation syndrome.

Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a rare condition associated with mutations in the genes RASA1 and EPHB4. We present a challenging case of CM-AVM in a 17-month-old boy with permanent diplegia from an undiagnosed arteriovenous malformation underlying a large atypical capillary malformation over the lower thoracic spine. This case demonstrates that clinicians should have a low threshold for neuroimaging in the context of new neurologic symptoms in patients with atypical capillary malformations.

Pyoderma Gangrenosum: A Review for the Gastroenterologist.

Pyoderma gangrenosum (PG) is a rare ulcerative skin disease of unknown etiology often associated with systemic inflammatory conditions, most commonly inflammatory bowel disease (IBD). The most common presentation of PG is spontaneous rapid formation of an extremely painful ulcer on the extremities, associated with significant morbidity and mortality. Rarely, PG can also occur as a chronic peristomal complication or as an acute postoperative complication of a surgical wound. The clinical course is unpredictable; it may not correlate with IBD activity and may even precede a diagnosis of IBD. Pyoderma gangrenosum is a diagnosis of exclusion. Treatment is challenging, often involving a variety of immunosuppressive therapies. This review aims to provide an update for the gastroenterologist on the pathogenesis, presentation, diagnosis, and management of PG, a rare complication of IBD.

Standardizing bimanual vaginal examination using cognitive task analysis.

OBJECTIVE: To create a standardized universal list of procedural steps for bimanual vaginal examination (BVE) for teaching, assessment, and simulator development. METHODS: This observational study, conducted from June-July 2012 and July-December 2014, collected video data of 10 expert clinicians performing BVE in a nonclinical environment. Video data were analyzed to produce a cognitive task analysis (CTA) of the examination steps performed. The CTA was further refined through structured interviews to make it suitable for teaching or assessment. It was validated through its use as a procedural examination checklist to rate expert clinician performance. RESULTS: BVE was deconstructed into 88 detailed steps outlining the complete examination process. These initial 88 steps were reduced to 35 by focusing on the unseen internal examination, then further refined through interviews with five experts into 30 essential procedural steps, five of which are additional steps if pathology is suspected. Using the CTA as a procedural checklist, the mean number of steps performed and/or verbalized was 21.6 ± 3.12 (72% ± 10.4%; range, 15.9-27.9, 53%-93%). CONCLUSION: This approach identified 30 essential steps for performing BVE, producing a new technique and standardized tool for teaching, assessment, and simulator development.