Kindler's Syndrome with Recurrent Neutropenia: Report of Two Cases from Saudi Arabia.

Kindler syndrome (KS) is a rare photosensitivity disorder with autosomal recessive mode of inheritance. It is characterized by acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. Besides these major features, many minor presentations have also been reported in the literature. We are reporting two cases with atypical features of the syndrome and a new feature of recurrent neutropenia. Whole exome sequencing analysis was done using next-generation sequencing which detected a homozygous loss-of-function (LOF) variant of FERMT1 in both patients. The variant is classified as a pathogenic variant as per the American College of Medical Genetics and Genomics guidelines. Homozygous LOF variants of FERMT1 are a common mechanism of KS and as such confirm the diagnosis of KS in our patients even though the presentation was atypical.

Axonal sensorimotor polyneuropathy after starting guselkumab.

Guselkumab is an IL-23 inhibitor that binds to the p19 subunit of IL-23 that is highly efficacious and well tolerated for the treatment of moderate-to-severe plaque psoriasis. We report a 20-year-old male who developed sensorimotor axonal polyneuropathy starting treatment with guselkumab, confirmed by neurological examination and serial neurophysiologic studies. His symptoms improved within 5 months of stopping the treatment. The neurophysiologic studies also showed improvement but with continued neuropathy and re-innervation changes on electromyography after about 10 months of stopping treatment. The time line of symptoms and a positive de-challenge are strong but not definitive evidence of guselkumab as a cause.

Rituximab/IVIG in pemphigus - a 10-year study with a long follow-up.

BACKGROUND: Pemphigus is a chronic potentially life-threatening autoimmune blistering disease affecting the skin and/or mucous membranes. Rituximab is being increasingly used and found efficacious in the treatment of pemphigus. OBJECTIVE: To present the Middle-Eastern experience with the use of rituximab in pemphigus. METHODS: A retrospective analysis of patient files was conducted which revealed 23 patients of pemphigus who were treated with rituximab (either alone or with IVIG) in the dermatology department of a tertiary care hospital from July 2004 to December 2014. RESULTS: The mean time to disease control was 8 weeks (median 5 weeks and range 2-30 weeks). 90.9% attained early study end point with the first cycle of rituximab. The remaining 9.1% needed an additional course of rituximab + IVIG to attain disease control. 90.5% of our patients attained complete remission during the study period. The average time to attain complete remission on minimal treatment was 25.4 weeks and partial remission on minimal treatment was attained after a mean period of 18.3 weeks. Rituximab was well tolerated by our patients and the rate of adverse-effects in our cohort was comparable to the previous reports. CONCLUSIONS: Rituximab is an effective and safe treatment for pemphigus and should be considered earlier in the algorithm of pemphigus treatment.