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Pediatric Psoriasis
Published in John Y. M. Koo, Ethan C. Levin, Argentina Leon, Jashin J. Wu, Alice B. Gottlieb, Moderate to Severe Psoriasis, 2014
Lauren Becker, Kelly M. Cordoro, Amy S. Paller
Several of the cutaneous variants of psoriasis seen in adults occur rarely in children. These include pustular, acropustular, erythrodermic, and follicular forms. Linear psoriasis is often first noted during childhood [44]. Geographic tongue may also represent a form of psoriasis in children. Pustular psoriasis has been described in more than 300 children. Five clinical patterns of sterile pustules have been noted: generalized or von Zumbusch form, annular, exanthematic, localized, and a mixed variant with features of both the generalized and annular patterns. Of these, the annular form is the most common in children (60% of the pustular psoriasis in children) [45,46]. Pattern types in children are not stagnant; initial localized presentation (particularly on the neck in infants) may progress to a more generalized pattern [47]. The mean age of onset is six years of age; however, pustular psoriasis has been described as early as first week of life [46,48]. Diagnosis should be confirmed by biopsy, which shows spongiotic pustules and Munro’s abscesses, in addition to the classic parakeratosis and elongated ridges of psoriasis. Associated fever, malaise, and anorexia may be severe. All forms can have a recurrent course over years to decades, although the episodes are usually less severe in the annular and mixed forms than in the generalized form. Lytic bone lesions may be associated [48,49], and when present in infants with pustular lesions, it should raise consideration of deficiency of IL-1 receptor antagonist (DIRA) [50]. DIRA, an autosomal recessive disorder with a higher prevalence in individuals of Puerto Rican descent, responds to administration of anakinra. In contrast to the occurrence of pustular psoriasis after a history of psoriasis vulgaris in adults, the occurrence of pustular psoriasis in a child is not uncommonly the presenting sign of psoriasis. The erythrodermic form is quite rare. It is characterized by erythema involving more than 90% of the total body surface and with less scaling than in the plaque type of psoriasis. Patients with erythrodermic or extensive pustular psoriasis usually require hospitalization, and courses are not uncommonly complicated by bacterial septicemia [46].
Rheumatology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Clarissa Pilkington, Kiran Nistala, Helen Lachman, Paul Brogan
The periodic fever syndromes are disorders of innate immunity, now usually referred to as autoinflammatory diseases. They are characterised by the following: Recurring episodes of fever and constitutional upset, but with normal health between attacks.Systemic inflammatory symptoms affecting: serosal surfacesjointsskineyes.Biochemical markers of inflammation: raised ESR, CRP and leucocytosis.Near normal life expectancy, except for risk of developing AA amyloidosis in later life.Seven major inherited syndromes are well described, but many new monogenic autoinflammatory diseases have recently been discovered (Table 17.1): FMF.TNF receptor-associated period syndrome (TRAPS).mevalonate kinase deficiency (MKD) (also known as hyperimmunoglobulin D and periodic fever syndrome [HIDS]).cryopyrin-associated periodic syndrome (CAPS) (subdivided into familial cold autoinflammatory syndrome [FCAS], Muckle Wells syndrome [MWS] and chronic infantile, neurological, cutaneous and articular syndrome/neonatal onset multi-system inflammatory disease [CINCA/NOMID]).pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome.deficiency of IL-1 receptor antagonist (DIRA).Blau syndrome/early onset sarcoidosis (EOS).
The interleukin-1 family cytokines in psoriasis: pathogenetic role and therapeutic perspectives
Published in Expert Review of Clinical Immunology, 2021
Deficiency of IL-1Ra (DIRA) leads to unopposed activity of the pro-inflammatory cytokines IL-1α and IL-1β. This was the first genetic disorder described with mutations leading to the appearance of pustular rashes. In the original report on the disease, six families with nine children were described, eight of them with cutaneous pustulosis, ranging from discrete crops of pustules to generalized severe pustulosis, from birth to 2.5 weeks of age [74]. Although DIRA is not included in the psoriasis spectrum, cutaneous and systemic features are strongly related to pustular psoriasis variants and the synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome.
Generalized pustular psoriasis is a disease distinct from psoriasis vulgaris: evidence and expert opinion
Published in Expert Review of Clinical Immunology, 2022
Hervé Bachelez, Jonathan Barker, A. David Burden, Alexander A. Navarini, James G. Krueger
The IL-1 family of cytokines contains highly inflammatory molecules that can create severe inflammatory conditions if the balance of activation versus regulation is disturbed. The most common form of regulation is the production of cytokine-like receptor antagonists that bind to receptor subunits and prevent the binding of activating cytokine ligands. This mode of regulation may have developed as a consequence of redundancy in activating ligands for single receptors. For example, the IL-1R binds both IL-1α and IL-1β, with both cytokines inducing similar cellular effects, while IL-36R binds IL-36α, IL-36β, and IL-36γ, with similar activating effects. Signaling of IL-1R is restrained by IL-1Ra and signaling of IL-36R is restrained by IL-36Ra; receptor antagonists bind directly to the extra-cellular receptor to prevent receptor dimerization and signaling by the cognate activating ligands. A rare genetic mutation of the IL-1Ra prevents its function and the consequence is an inflammatory skin disease with pustulation and systemic inflammation termed Deficiency of IL-1 Receptor Antagonist (DIRA). Treatment of DIRA involves attenuation of IL-1α and IL-1β signaling with soluble receptor traps or other means. The disease most similar to DIRA is GPP, the subject of this review. There are clear genetic deficiencies in IL36RN, the gene that encodes IL-36Ra, in a sizable proportion of patients with GPP. GPP is a disease, like DIRA, that involves skin inflammation, pustulation, and systemic inflammation. In reference to DIRA, the acronym DITRA has been proposed for GPP related to inborn errors of the IL36RN gene. The latter, as well as other genetic defects identified in GPP, all converge in a deregulation of the innate immune system involving the IL-36 pathway as a key pathogenic circuit in GPP, making GPP a member of the so-called AID entity.
Rilonacept for the treatment of recurrent pericarditis
Published in Expert Opinion on Biological Therapy, 2022
Agostina M Fava, Reza Reyaldeen, Saberio Lo Presti, Amit Goyal, Emmanuel Akintoye, Diarmaid Hughes, Allan L. Klein
Rilonacept, was firstly approved for the treatment of cryopyrin-associated periodic syndromes (CAPS) in adults and children 12 and older by the US Food and Drug Administration (FDA) [41]. It is a rare hereditary, autosomal-dominant inflammatory disorder including Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, and deficiency of IL-1 receptor antagonist (DIRA).