Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological ph...

5-FU: 5-fluorouracil FOLFIRI: 5-fluorouracil, irinotecan, and folinic acid TEC: toxic erythema of chemotherapy INTRODUCTION Here we describe a case of systemic FOLFIRIassociated balanitis successfully treated by topical steroids, without discontinuation of chemotherapy treatment. FOLFIRI consists of the pyrimidine analog antimetabolite, 5-fluorouracil (5-FU), the topoisomerase inhibitor, irinot...

Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological ph...

The inheritance of Olmsted syndrome that is a very rare congenital with transgredient palmoplantar keratoderma is distinguished by the presence of massive hyperkeratosis with fissured skin and periorificial chaps. It usually appears during the early life and mostly in male pateints. Herein we report a case of Olmsted syndrome which is associated with ichthyosis and somatic type of delusion duri...

Answer: E A 72-year-old male of Caucasian descent was referred for consideration of systemic therapy after receiving a diagnosis of hepatocellular carcinoma (HCC). His past medical history was unremarkable with no comorbidities and he was not on any other medications. Computer tomography (CT) scan revealed multifocal HCC, and a biopsy of which confirmed HCC. There was no underlying cirrhosis or...

administration of multiple cycles of topical and systemic corticosteroid therapy, topical tazarotene, ciclosporin at a dose of 3 mg/kg/d (whose efficacy cannot be adequately evaluated due to treatment interruption after a month because of failure to attend follow-up), and methotrexate at a maximum dose of 20 mg/wk, which the patient continues to receive. Interestingly, despite hypertrophic LP b...

We have addressed the question of how keratin intermediate filaments are associated with the cell envelope at the periphery of cornified epidermal cells. Many peptides from human epidermal cell envelopes containing isopeptide crosslinks inserted by transglutaminases in vivo have been characterized. A major subset involves the type II keratin chains keratin 1, 2e, 5, or 6 crosslinked to several ...

Pachyonychia congenita(PC) is a rare disorder that features palmoplantar keratoderma(PPK) as its most significant symptom. PPK are thick calluses arising in palmar and plantar skin painful to the point of debilitation PC related disorders. caused by dominantly-acting small mutations affect coding sequence KRT6A, KRT6B, KRT6C, KRT16 or KRT17. Unlike case for many other keratinopathies, cell frag...