Case Report: Comorbid Hyper-IgD Syndrome and Hidradenitis Suppurativa - A New Syndromic Form of HS? A Report of Two Cases.

Hidradenitis Suppurativa (HS) is a chronic suppurative disease of the pilosebaceous unit. The current model of HS pathophysiology describes the condition as the product of hyperkeratinisation and inflammation at the hair follicular unit. Environmental factors (such as smoking and obesity), gender, genetic predisposition, and skin dysbiosis are considered the main pathogenic drivers of the disease. Autoinflammatory syndromes associated with HS are rare but may help to highlight the potential roles of autoinflammation and dysregulated innate immune system in HS. Therefore, it is of major relevance to increase the awareness about these diseases in order to improve the understanding of the disease and to optimize the management of the patients. Herein, we report for the first time, to our knowledge, two clinical cases of Hyper-IgD syndrome-associated HS. Hyper-IgD is an autoinflammatory syndrome caused by a mevalonate kinase deficiency (MKD), a key kinase in the sterol and isoprenoid production pathway. We describe the potentially shared pathophysiological mechanisms underpinning comorbid MKD-HS and propose therapeutic options for the management of these patients.

Adalimumab-Induced Psoriasis with Severe Alopecia.

A 52-year-old woman with a 10-pack-year smoking history presented with serious hair loss. She had a 10-year history of Crohn's disease associated with arthritis, for which she had been taking adalimumab. After 2 months of this treatment, she developed pustular lesions on her palms, soles, and scalp. Her gastroenterologist discontinued adalimumab injections, ordered skin biopsy, and switched her to ustekinumab 90-mg subcutaneous injections every 8 weeks. She then presented to our dermatology clinic, 2 months following the initiation of anti-IL12/23 medications, for her alopecia. She had no personal or family history of psoriasis. (SKINmed. 2022;20:136-138).

Psoriasis and Myasthenia Gravis: A Common Th-17 Pathway.

Psoriasis is a chronic inflammatory skin disease whose treatment arsenal is expanding by the day. However, when comorbidities coexist, therapy can be challenging. We report a case of a 55-year-old female with steroid-dependent myasthenia gravis who presented with a severe form of chronic plaque psoriasis. After the failure of topical corticosteroids and phototherapy, the patient was started on ixekizumab. This anti-IL-17 antibody led not only to the clearance of the psoriatic lesions but also to the remission of the myasthenic symptoms. While on this medication, the patient was able to taper down and discontinue the oral corticosteroids. The remission of the symptoms of myasthenia gravis during this treatment supports the role of IL-17 cytokines in the pathogenesis of this disease and adds it as a management option in steroid-dependent cases.

Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings.

ABSTRACT: Prolidase deficiency (PD) is a rare autosomal recessive genodermatosis with variable clinical manifestations. It results from a mutation in the peptidase-D gene that leads to abnormal activity of the prolidase enzyme, an important player in collagen catabolism. The authors report the case of two siblings presenting with dysmorphic features, disturbed blood panel, and recalcitrant leg ulcerations of several years' duration. Sequencing of the 15 exons and of the intron/exon junction regions of the peptidase-D gene revealed the presence of a homozygous pathogenic variant c.549-1G > A. An ointment with 5% proline and 5% glycine was compounded, and the patients were instructed to apply it once daily. A follow-up visit after 8 months revealed partial improvement of the ulcerations starting from the third month of treatment. These authors hope this case report sheds light on this disease and recommend it be incorporated into the differential diagnoses of chronic leg ulcerations, particularly those starting at a young age.