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Nail changes in systemic diseases and drug reactions
Published in Eckart Haneke, Histopathology of the NailOnychopathology, 2017
Sarcoidosis is a granulomatous multisystem disorder with predominant lung involvement. It may rarely be acute or much more frequently chronic. Blau syndrome is a hereditary early onset sarcoidosis due to an NOD2 mutation.35,36 Roughly one-quarter of sarcoidosis patients develop cutaneous lesions, but one-quarter of patients with sarcoidosis presenting in dermatology have only skin involvement.37,38 Between 0.25% and 1.5% of sarcoidosis patients develop nail involvement.39,40 In many cases, there is also radiological evidence of bone alterations of the distal phalanx known as ostitis multiplex cystoides of Jüngling,41,42 but cases without bone involvement have been described.43–45 The nail lesions are very variable with nail dystrophy to painful clubbing, massive painful swelling of the distal phalanx, or lupus pernio. A necrotizing sarcoidal distal dactylitis was observed in black South Africans.46 Splinter hemorrhages, onycholysis, subungual hyperkeratosis, and brown discoloration of the nail bed may occur. Pterygium formation and cicatricial nail atrophy were seen.47,48 Treatment with prednisone and chloroquine or intralesional steroid injections may improve the nail lesions.38,49 The cystic ostitis has to be differentiated from phalangeal microgeodic syndrome.50
Seronegative arthropathies
Published in Rajan Madhok, Hilary Capell, The Year in Rheumatic Disorders Volume 4, 2004
PsA arises from a complex series of interactions between environmental agents acting upon a genetically predisposed host. It is suspected but not proven that many of these genetic loci will identify molecules of importance in host defence. The availability of technology for large population gene sequencing of marker sets mapping the human genome, and in this case rather unique clinical cohorts for evaluation, provides great potential for identification of candidate genes that offer pathogenetic insight. These studies identify for the first time a non-MHC gene of potential importance in susceptibility to PsA. The study in the Icelandic population identified a locus on chromosome 16q that was close to the NOD2/CARD15 gene that has been associated with Crohn's disease and with Blau syndrome. This finding is in keeping with the well recognized clinical association between inflammatory bowel disease and the seronegative spectrum of arthritic disease. However, in two other independent studies psoriasis has not been associated with NOD2/CARD15. It is possible that CARD 15 segregates with features of the arthropathic component of the PsA disease spectrum. It is of interest that Karason et al. (2003) report on unpublished data suggesting that chromosome 16 overlaps with a peak observed in families with osteoarthritis (OA). They postulate that some articular susceptibility locus may exist on this chromosome, although this remains to be proven. It is noteworthy also that only patients with psoriasis a priori were studied in the Icelandic cohort. Given the relatively unique nature of the populations studied, it will be important to confirm the association between CARD 15 and PsA in other independent clinical cohorts.
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).
Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet’s disease susceptibility and clinical manifestations
Published in Ophthalmic Genetics, 2021
Ayca Kocaaga, Gunes Cakmak Genc, Sevim Karakas Celık, Rafet Koca, Ahmet Dursun
The distributions of genotypes in the rs2075818 (NOD1 G/C) were a statistically significant between the BD patients and controls (p = .05; OR = 3.780 CI = 1.002–14.256, Table 3). The CC genotype of rs2075818 was significantly over-represented in BD patients (70.9% vs. 14.3%, Table 3) and homozygous carriers of the CC genotype had approximately a 3.780-fold increased risk for BD. On the other hand, there was not any statistically significant difference for allele distributions of the NOD1 rs2075818 (p = .070; OR = 1.570; CI = 0.972–2.534, Table 3). The CC genotype was compared to individuals with the GC and GG genotype in recessive model. A statistically significant difference was found between BD patients and control groups (p = .019; OR = 2.681; CI = 1.152–6.237, Table 3). NOD2 (R334Q and R334W) gene mutations associated for Blau syndrome were not detected in the samples of BD patients and controls.
Differential Diagnosis of Vitritis in Adult Patients
Published in Ocular Immunology and Inflammation, 2021
Sarah Touhami, Mathilde Leclercq, Dinu Stanescu-Segall, Valérie Touitou, Bahram Bodaghi
Sarcoidosis is a classical cause of intermediate uveitis. Patients usually display other signs that may guide toward this diagnosis, such as a chronic granulomatous anterior uveitis with mutton fat keratic precipitates (KPs), posterior synechiae or iris nodules, however, isolated vitritis may be the only indication in some patients. An indocyanine green angiography may be helpful in these situations, showing the presence of choroidal granulomas. Zierhut et al reported 6 cases of biopsy proven sarcoidosis and 9 sarcoidosis suspect patients in a cohort of 62 IU patients.79 The same study suggested that biological or histological proof of sarcoidosis may be obtained years after the onset of IU, questioning the necessity of repeating the tests during the course of the disease. Although the definite diagnosis of sarcoidosis is histological, biological tests may include serum angiotensin converting enzyme (ACE) lysozyme and serum and urinary calcium. ACE levels should be interpreted in terms of patient’s age because they are found to be higher in children than compared to adults.82,83 Blau syndrome is characterized by clinical features such as polyarthritis, skin rash and uveitis, including intermediate uveitis. Genetic testing can be performed in children and teenagers to rule out this rare diagnosis.84
Ocular Features in Chinese Patients with Blau Syndrome
Published in Ocular Immunology and Inflammation, 2020
Shijing Wu, Linqing Zhong, Zixi Sun, Tian Zhu, Hongmei Song, Ruifang Sui
Blau syndrome (BS) is a rare familial granulomatous disease transmitted through an autosomal dominant trait that is defined by a triad of symptoms, including skin rash, chronic symmetric arthritis, and recurrent uveitis. The disease was first described by Dr. EB Blau in 1985,1 which was the same year Jabs reported a similar family.2 Through linkage analysis of a large BS pedigree, the disease locus was mapped to the chromosomal region 16q12.1–13.3 Mutations in the NOD2/CARD15 gene were found to be responsible for BS.4 The NOD2 gene has 12 exons, which are composed of two N-terminal caspase recruitment domains (CARDs), a nucleotide oligomerization domain (NOD/NACHT), and a C-terminal leucine-rich repeats region (LRRs).5 The gene encodes a protein of 1040 amino acids expressed in monocytes, macrophages and intestinal Paneth cells.6 NOD2 activates MAPKs (mitogen-activated protein kinases) and NF-kB (nuclear factor κB) mainly through RICK or RIP2, resulting in an inflammatory response and enhanced autophagy activity.7