Whole-Exome Sequencing in 10 Unrelated Patients with Syndromic Hidradenitis Suppurativa: A Preliminary Step for a Genotype-Phenotype Correlation

<b><i>Background:</i></b> The genetics of syndromic hidradenitis suppurativa (HS), an immune-mediated condition associated with systemic comorbidities such as inflammatory bowel diseases and arthritis, has not been completely elucidated. <b><i>Objective:</i></b> To describe clinical features and genetic signature of patients with the main syndromic HS forms, i.e., PASH, PAPASH, and PASH/SAPHO overlapping. <b><i>Methods:</i></b> Whole-exome sequencing (WES) approach was performed in ten patients with syndromic HS. <b><i>Results:</i></b> Three clinical settings have been identified based on presence/absence of gut and joint inflammation. Four PASH patients who had also gut inflammation showed three different variants in <i>NOD2</i> gene, two variants in <i>OTULIN</i>, and a variant in <i>GJB2</i>, respectively. Three PAPASH and three PASH/SAPHO overlapping patients who had also joint inflammation showed two different variants in <i>NCSTN</i>, one in <i>WDR1</i> and <i>PSTPIP1</i>, and two variants in <i>NLRC4</i>, one of whom was present in a patient with a mixed phenotype characterized by gut and joint inflammation. <b><i>Limitations:</i></b> Limited number of patients that can be counterbalanced by the rarity of syndromic HS. <b><i>Conclusion:</i></b> Syndromic HS can be considered as a polygenic autoinflammatory condition; currently WES is a diagnostic tool allowing more accurate genotype-phenotype correlation.

Color Doppler and Microvascular Flow Imaging to Evaluate the Degree of Inflammation in a Case of Hidradenitis Suppurativa

Microvascular Flow Imaging is a new ultrasound technique with better ability than Color Doppler Imaging to identify small vessels that have slow blood flow, and it permits better evaluation of the features, especially microvascular architecture, of various lesions. We describe a case of inguinal hidradenitis suppurativa in a patient with positive risk factors (young age, female, smoker, and obese), diagnosed by ultrasonography using B-Mode, Color Doppler, and finally also with Microvascular Flow Imaging. Our aim is to demonstrate the usefulness of this new technique in characterization of lesions.

Painful catamenial vulvar lesions misleading gynecologist

Endometriosis usually presents as cyclical pain in the pelvis but may also present as painful cutaneous lesions. Many diseases may mimic hidradenitis suppurativa (HS) since HS, a chronic inflammatory painful skin disease, is a clinical diagnosis. A 32-year-old woman presented with painful lumps on her vulva and groin accompanied with bloody discharge during menstruation. She was followed up with preliminary diagnosis of endometriosis. Previous excision without definitive diagnosis resulted in temporary relief. She was prescribed oral contraceptive pills that alleviated her symptoms but quitted due to headache. Surgical excision was performed for definitive diagnosis and therapeutic relief. Pathology report revealed HS. She was prescribed oral doxycycline. She responded well to the therapy and has symptom-free for the last 2 years. She delivered one healthy girl via cesarian section 2 years after the treatment. Endometriosis and HS should be included in the differential diagnosis when women present with menstrual painful lesions around external genitalia for diagnosis and treatment.

Guidance on COVID-19 Vaccination in Hidradenitis Suppurativa Patients: A Modified Delphi Consensus of Experts

<b><i>Introduction:</i></b> Hidradenitis suppurativa (HS) patients may be at increased risk of COVID-19 infection and complications from their medications and comorbidities. There is a lack of expert consensus on recommendations for the COVID-19 vaccine for HS patients. Herein, we aim to provide expert-driven consensus recommendations regarding COVID-19 vaccinations in HS patients. <b><i>Methods:</i></b> A modified Delphi consensus survey developed by a core committee of 7 dermatologist HS experts consisting of 4 demographic questions and 12 practice statements was distributed to the US HS Foundation-sponsored provider listserv. Participants were attending physician HS experts. Survey results were to be reviewed by the core group and revised and resubmitted until consensus (≥70% agreement) was achieved. <b><i>Results:</i></b> Among the 33 survey participants, there were 30 (87%) dermatologists, 1 general surgeon, 1 plastic surgeon, and 1 rheumatologist. Consensus for all 12 statements on vaccine counseling and HS treatment counseling was achieved after the first round. <b><i>Discussion/Conclusion:</i></b> For now, this consensus can serve as a resource for clinicians discussing COVID-19 vaccination with their HS patients. These recommendations will need to be updated as new evidence on COVID-19 emerges.