Identification of a novel variant in the LAMB3 gene in a patient with a distinct junctional epidermolysis bullosa laryngo-onycho-cutaneous syndrome phenotype.

Junctional epidermolysis bullosa (JEB) represents a rare mechanobullous genodermatosis, characterized by fragility and blister formation of the skin and mucous membranes. Within the JEB spectrum, laryngo-onycho-cutaneous (LOC) syndrome is a rare subtype that manifests with excess granulation tissue of the eyes, nails, skin, and larynx. Thus far, the LOC subtype has been linked predominantly to mutations in LAMA3, disrupting the epidermal basement membrane zone.

A fatal case of hemophagocytic lymphohistiocytosis due to neonatal lupus erythematosus.

Neonatal lupus erythematosus (NLE) is an autoimmune disease caused by the passive transfer of autoantibodies from mother to child during pregnancy. A rare complication of NLE is hemophagocytic lymphohistiocytosis (HLH), a potentially life-threatening hyperinflammatory state more commonly associated with other rheumatologic disorders. Herein, we describe a fatal case of NLE-associated HLH.

Generalized fixed drug eruption following Pfizer-BioNtech COVID-19 vaccination.

Fixed drug eruption is a cutaneous drug reaction which recurs at the same site when the individual is exposed to the causative drug, characterized by single or multiple round sharply demarcated erythematous-to-violaceous patches. Here, we report a patient with generalized non-bullous fixed drug eruption following mRNA-based Pfizer-BioNTech COVID-19 vaccine.

Effective use of oral tofacitinib and phototherapy in a patient with concomitant alopecia areata, vitiligo, and plaque and inverse psoriasis.

This case presentation suggests that tofacitinib combined with phototherapy may be an effective treatment option for patients with concomitant alopecia areata, vitiligo, and different phenotypes of psoriasis including plaque and inverse psoriasis.