Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy.

We report three unrelated individuals, each exposed to maternal autoantibodies during gestation and found to have elevated very long-chain fatty acids (VLCFAs) in the newborn period after screening positive by California newborn screening (NBS) for X-linked adrenoleukodystrophy (ALD). Two probands presented with clinical and laboratory features of neonatal lupus erythematosus (NLE); the third had features suggestive of NLE and a known maternal history of Sjogren's syndrome and rheumatoid arthritis. In all three individuals, subsequent biochemical and molecular evaluation for primary and secondary peroxisomal disorders was nondiagnostic with normalization of VLCFAs by 15 months of age. These cases add to the expanding differential diagnosis to consider in newborns who screen positive for ALD via elevated C26:0-lysophosphatidylcholine. Though the pathophysiology of how transplacental maternal anti-Ro antibodies damage fetal tissue is not well-understood, we postulate that the VLCFA elevations reflect a systemic inflammatory response and secondary peroxisomal dysfunction that improves once maternal autoantibodies wane after birth. Additional evaluation of this phenomenon is warranted to better understand the intricate biochemical, clinical, and possible therapeutic overlap between autoimmunity, inflammation, peroxisomal dysfunction, and human disease.

Epidemiologic Analysis of Chilblains Cohorts Before and During the COVID-19 Pandemic.

Importance: Beginning in March 2020, case reports and case series linked the COVID-19 pandemic with an increased occurrence of chilblains, but this association has not been evaluated in an epidemiologic study. Objective: To assess whether a correlation exists between COVID-19 incidence and chilblains incidence. Design, Setting, and Participants: A retrospective cohort study was conducted within the Kaiser Permanente Northern California system from January 1, 2016, to December 31, 2020; health plan members of all ages were included. Exposure: COVID-19 incidence in 207 location-months, representing 23 geographic locations in northern California across 9 months. Main Outcome and Measures: Chilblains incidence was the main outcome. The association of chilblains incidence with COVID-19 incidence across the 207 location-months was measured using the Spearman rank correlation coefficient. Results: Of 780 patients with chilblains reported during the pandemic, 464 were female (59.5%); mean (SD) age was 36.8 (21.8) years. COVID-19 incidence was correlated with chilblains incidence at 207 location-months (Spearman coefficient 0.18; P = .01). However, only 17 of 456 (3.7%) patients with chilblains tested during the pandemic were positive for SARS-CoV-2, and only 9 of 456 (2.0%) were positive for SARS-CoV-2 within 6 weeks of the chilblains diagnosis. Test results of 1 of 97 (1.0%) patients were positive for SARS-CoV-2 IgG antibodies. Latinx patients were disproportionately affected by COVID-19 but not by chilblains. Conclusions and Relevance: This cohort study found that in northern California, the incidence of chilblains increased during the pandemic but was correlated weakly with the incidence of COVID-19 across 207 location-months. These findings may have resulted from a causal role of COVID-19, increased care-seeking by patients with chilblains during the pandemic, or changes in behavior during shelter in place.

Hearing loss in PHACE syndrome: clinical and radiologic findings.

PURPOSE: To characterize the types of hearing loss, auditory-related imaging findings, and hemangioma characteristics in patients with Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects, and abnormalities of the Eye (PHACE) syndrome. METHODS: Retrospective medical records, audiologic data, and imaging review of all patients presenting to a tertiary care children's hospital with a proven diagnosis of PHACE syndrome from 2005 to 2016. RESULTS: Twelve patients were identified with hearing and imaging data. 5/12 had hearing loss, 1 had unilateral severe sensorineural loss with minor conductive component, 1 had unilateral moderate sensorineural loss with minor conductive component, 1 had mild bilateral conductive loss, 1 had bilateral hearing loss (left severe mixed and right severe sensorineural), and 1 had moderate bilateral conductive loss. All patients passed their newborn hearing screening. Of the 5 patients with hearing loss, 3 had IAC hemangiomas (1 bilateral), 3 had enlarged IACs with prominent posterior petrous bones (1 bilateral), 2 had dysgenesis of the cerebellar vermis and hemispheres, there was 1 patient each with a deformed pinna and middle ear and mastoid effusions, and 1 patient had no abnormal auditory-related imaging findings. Patients with hearing loss were more likely to have more areas of cutaneous hemangioma involvement (mean 6.4 vs 3.1, p = .05). Laterality of hearing impairment correlated with the side of cutaneous hemangioma in all patients with hearing loss. Treatment with systemic propranolol did not improve hearing. CONCLUSIONS: Patients with PHACE are at risk for hearing loss and may demonstrate radiologic abnormalities within the ear structures, although the type of hearing loss, imaging findings, and their respective correlation vary. While our results are limited by our small sample size, comprehensive audiology evaluations (as opposed to newborn screening testing only) should be considered for PHACE patients who have extensive cutaneous hemangioma or auditory-related imaging abnormalities, such as internal auditory canal hemangiomas.

Bibbidi bobbidi bald: Two "hairowing" tales of Princess Package hairstyles.

We present cases of localized alopecia on the vertex scalp of two girls after elaborate professional hairstyling marketed as the "Princess Package" at a major U.S. theme park. Localized alopecia followed pain, erythema, and delayed crusting due to necrosis of the scalp. The majority of the affected alopecic areas had evidence of regrowth at interval follow-up, but small areas of scarring alopecia remained. We propose that these cases represent a type of alopecia caused by a combination of pressure ischemia and acute traction alopecia.

Hemophilia: in review.

Hemophilia A (deficiency in factor [F] VIII) and hemophilia B (deficiency in FIX) are the most common serious congenital coagulation factor deficiencies. (Based on strong evidence) Hemophilia is a genetic disorder inherited in an Xlinked fashion. Both diseases cause similar bleeding diatheses, with the hallmark being hemarthroses. (Based on strong evidence) The optimal treatment is recombinant factor replacement to prevent bleeding; however, this treatment has many barriers. (Based on strong evidence) The most serious complication of treatment is the development of inhibitors to factor products. (Based on strong evidence) Care for patients with hemophilia is most appropriate in a comprehensive care setting. (Based on strong evidence).

A 12-year-old boy with foot lesions.

CME EDUCATIONAL OBJECTIVES: 1.Identify the clinical presentation of granuloma annulare.2.Describe the differential diagnosis for granuloma annulare.3.Discuss the appropriate management for granuloma annulare. A 12-year-old healthy male presented to the dermatology clinic for evaluation of lesions on his feet. The lesions were bilateral and had been present for at least 6 months. Multiple topical treatments had been prescribed in the past, including miconazole nitrate 2% cream, oxiconazole 1% cream and alclometasone dipropionate 0.05% ointment. Each had been used for several weeks without improvement. Because of this, the referring doctor prescribed griseofulvin microsize 250 mg twice daily for 4 weeks and referred the patient to dermatology. The patient denied pruritus or pain. Review of systems, medical history, and family history were unremarkable.

A 6-week-old girl with a scalp lesion.

CME EDUCATIONAL OBJECTIVES: 1.Identify the clinical features of aplasia cutis congenita (ACC).2.Understand the differential diagnosis of ACC.3.Recognize features of concern for underlying associations of ACC. A 6-week-old girl presented to the dermatology clinic for evaluation of a scalp lesion. She was born full-term by vaginal delivery to a 27-year-old healthy mother with normal prenatal labs. The delivery was complicated by prolonged rupture of membranes and a scalp electrode was placed at hour 20 of labor. Forceps or other instrumentation were not used during delivery. In the general care nursery, the infant was noted to have a scalp lesion. No bleeding or drainage was ever noted from the area. The lesion remained unchanged since birth with no intermittent enlargement noted. Review of systems was unremarkable. Family history was noncontributory.