Resolution of a Focal Pruritic Rash Following Neurosurgical Decompression in an Adolescent With Chiari I and Syringomyelia.

BACKGROUND: Chiari I malformation (Chiari I) is defined by the downward displacement of one or both cerebellar tonsils below the foramen magnum of the skull with crowding altering cerebrospinal fluid flow. It can be associated with the development of a fluid-filled cavity within the spinal cord, syringomyelia. Neurological deficits or symptoms can occur at the level of anatomic involvement of syringomyelia. CASE PRESENTATION: A young man presented to dermatology clinic for evaluation of a pruritic rash. Recognizing a unique left "cape-like" distribution of neuropathic itch leading to prurigo nodularis, he was referred for further evaluation by neurology in the local emergency department. After additional history and neurological exam, a magnetic resonance imaging confirmed Chiari I with an associated syringobulbia and a syrinx extending to T10/11 of the spinal cord. Anteriorly the syrinx extended into the left parenchyma of his spinal cord involving the dorsal horn, a lesion explaining his neuropathic itch. The sensation of itch and rash resolved after posterior fossa craniectomy and C1 laminectomy with duraplasty. CONCLUSION: Neuropathic itch, in addition to pain, can be a symptom of Chiari I with syringomyelia. Focal pruritus without an obvious cutaneous trigger should prompt providers to consider a central neurological pathology. While many patients with Chiari I are asymptomatic, the presence of neurological deficits and syringomyelia, are indications for neurosurgical evaluation.

Evaluation of a Case Series of Patients With Generalized Pustular Psoriasis in the United States.

IMPORTANCE: Generalized pustular psoriasis (GPP) is a chronic, orphan disease with limited epidemiological data. OBJECTIVE: To describe the clinical characteristics, treatments, longitudinal disease course, and disease-specific health care utilization among patients with GPP across the United States. DESIGN, SETTING, AND PARTICIPANTS: A retrospective longitudinal case series involving 95 adults who met the European Rare and Severe Psoriasis Expert Network consensus definition for GPP and were treated at 20 US academic dermatology practices between January 1, 2007, and December 31, 2018. MAIN OUTCOMES AND MEASURES: The primary outcome is to describe the patient characteristics, associated medical comorbidities, treatment patterns complications, and GPP-specific health care utilization. RESULTS: Sixty-seven of 95 patients (70.5%) were women (mean age, 50.3 years [SD, 16.1 years]). In the initial encounter, 35 patients (36.8%) were hospitalized and 64 (67.4%) were treated with systemic therapies. In total, more than 20 different systemic therapies were tried. During the follow-up period, 19 patients (35.8%) reported hospitalizations at a median rate of 0.5 hospitalizations per year (IQR, 0.4-1.6). Women had a decreased risk of an emergency department or hospital encounter (odds ratio, 0.19; 95% CI, 0.04-0.83). CONCLUSIONS AND RELEVANCE: Generalized pustular psoriasis is a rare, chronic disease without standard treatment and is associated with continued health care utilization over time.

Evaluation of a Case Series of Patients With Palmoplantar Pustulosis in the United States.

IMPORTANCE: Palmoplantar pustulosis (PPP) is a is a chronic, orphan disease with limited epidemiological data. OBJECTIVE: To describe the clinical characteristics, treatments, longitudinal disease course, and health care utilization in adults with PPP across the US. DESIGN, SETTING, AND PARTICIPANTS: This retrospective, longitudinal case series from 20 academic dermatology practices in the US included a consecutive sample of 197 adults who met the European Rare and Severe Psoriasis Expert Network consensus definition for PPP between January 1, 2007, and December 31, 2018. Data analysis was performed June 2020 to December 2020. MAIN OUTCOMES AND MEASURES: The primary outcome was to describe the patient characteristics, associated medical comorbidities, treatment patterns, complications, and PPP-specific health care utilization. RESULTS: Of 197 patients, 145 (73.6%) were female, and the mean (SD) age at presentation was 53.0 (12.6) years, with a mean (SD) follow-up time of 22.1 (28.0) months. On initial presentation, 95 (48.2%) patients reported skin pain, and 39 (19.8%) reported difficulty using hands and/or feet. Seventy patients (35.5%) were treated with systemic treatments, and use of more than 20 different systemic therapies was reported. In patients with at least 6 months of follow-up (n = 128), a median (IQR) of 3.7 (4-10) dermatology visits per year were reported; 24 (18.8%) patients had 5 or more visits during the study period. CONCLUSIONS AND RELEVANCE: In this case series, PPP was associated with persistent symptoms, continued health care utilization, and a lack of consensus regarding effective treatments, emphasizing the unmet medical need in this population. Additional research is necessary to understand treatment response in these patients.