Background: The susceptibility gene for familial cold autoinflammatory syndrome (FCAS) has been mapped to chromosome 1q44 and a point mutation determined to be present in all affected members of a large Canadian kindred. Anakinra (Kineret) is known to block IL-1 receptor and in the few patients with FCAS in whom it has been used, it has been shown to provide relief for this lifelong disability.Objective: To demonstrate the efficacy and safety of anakinra (Kineret) in FCAS.Methods: Eight affected family members aged 29 to 77 years received anakinra 100 mg subcutaneously daily for 4 weeks preceded and followed by a 2-week control period. Results:The treatment was rapidly effective paralleled by the immediate fall of the C-reactive protein and serum amyloid A protein. The only significant side effect was an injection-site reaction in 50%, which declined in the follow-up period. The effect was sustained in all who continued to use the treatment at 4 and 16 months of follow-up.Conclusion: This is the first treatment of FCAS that is completely effective while it is used.Anté cé dents: La cartographie gé né tique a situé le gène de pré disposition à l'urticaire familiale au froid sur le chromosome 1q44 et une mutation ponctuelle a é té dé terminé e pour toutes les personnes atteintes dans une famille canadienne. Il est connu que l'anakinra (KineretMD) bloque le ré cepteur IL-l et, chez les quelques patients atteints d'urticaire familiale qui ont reç u ce traitement, il a é té dé montré que le mé dicament procure un soulagement contre cette invalidité chronique.Objectif: Dé montrer l'efficacité et l'innocuité d'anakinra (Kineret) dans le traitement de l'urticaire familiale au froid.Mé thodes: Huit membres affecté s d'une mê me famille, â gé s de 29 à 77 ans, ont reç u des injections sous-cutané es quotidiennes de 100 mg d'anakinra pendant 4 semaines, traitement pré cé dé et suivi par une pé riode de contrô le de 2 semaines.Ré sultats: L'efficacité du traitement a é té vite remarqué e, accompagné e d'une baisse immé diate des niveaux de la proté ine Cré active et de la proté ine amyloïde A sé rique. Le seul effet secondaire notable é tait la ré action au point d'injection dans 50 % des cas, une ré action qui a baissé au cours de la pé riode de suivi. L'effet du mé dicament s'est maintenu chez les patients qui ont poursuivi le traitement au moment des deux suivis, soit 4 et 16 mois plus tard.Conclusion: Il s'agit du premier traitement efficace contre l'urticaire familiale au froid qui est totalement efficace tant qu'il est suivi.

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Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis caused by mutations in extracellular matrix protein 1 (ECM1) that involves deposition of basement membrane-like material in the skin and other organs. Epidermodysplasia verruciformis (EV) is also a rare autosomal recessive genodermatosis involving susceptibility to human papillomavirus (HPV) infections and squamous cell carcinoma, caused in most cases by homozygous mutations in EVER1 or EVER2. We describe a case of EV in a patient with LP and discuss the pathophysiology. A 3-year-old Lebanese girl presented with hoarseness, beaded papules along the eyelid margins, waxy papules and plaques on her head and neck, and lichenoid verrucous papules on the forearms and hands. Histopathology of the waxy papules exhibited deposition of periodic acid Schiff-positive basement membrane-like material in the superficial dermis, characteristic of LP. The verruca plana-like lesions exhibited acanthosis and enlarged keratinocytes with pale blue-grey cytoplasm and a perinuclear halo, consistent with verrucae and EV. Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. The homozygous point mutation c.389C>T in ECM1 may be a novel mutation causing LP. Verruca plana-like lesions seen in LP appear to represent a form of acquired EV. In this patient, a heterozygous mutation in EVER2 at c.917 A>T may also have conferred susceptibility to HPV infection.

Multiple cutaneous granular cell tumors are rare in childhood. We cared for two children with 15 and 6 tumors respectively. The tumors were asymptomatic nodules in the skin. Histologically, they consisted of large cells containing granules that were positive on periodic acid-Schiff stain and diastase resistant.