Disease #00012 (PSORS (psoriasis, pustular, generalized (PSORS)))

Official abbreviation PSORS
Name psoriasis, pustular, generalized (PSORS)
OMIM ID -
Inheritance -
Individuals reported having this disease 15
Phenotype entries for this disease 14
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2012-07-06 21:50:32 +02:00 (CEST)
Date last edited 2019-08-12 13:38:21 +02:00 (CEST)


Individuals

15 entries on 1 page. Showing entries 1 - 15.
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00000135 - PubMed: Marrakchi 2011 5-generation family, 3 affecteds (M) M yes Tunisia - - - - - PSORS - IL36RN EYS, IL36RN 2 3 Johan den Dunnen
00000139 - PubMed: Marrakchi 2011 4-generation family, 4 affecteds (F) F yes Tunisia - - - - - PSORS - IL36RN IL36RN 1 4 Johan den Dunnen
00000142 - PubMed: Marrakchi 2011 5-generation family, 1 affected M yes Tunisia - - - - - PSORS - IL36RN IL36RN 1 1 Johan den Dunnen
00000144 - PubMed: Marrakchi 2011 5-generation family, 1 affected M yes Tunisia - - - - - PSORS - IL36RN IL36RN 1 1 Johan den Dunnen
00000147 - PubMed: Marrakchi 2011 2-generation family, 1 affected M ? Tunisia - - - - - PSORS - IL36RN IL36RN 1 1 Johan den Dunnen
00001503 Pat2 PubMed: Santen 2013 - M - - - - - - - CAAHD, CSS, EPM1A, IVA, JBS, JBTS1, JBTS13, KTZS, LCCS1, MCLMR, MDDGC5;LGMDR9;LGMD2I, PSORS, USH3B brith a term, weight SD 0.5; inguinal hernia bilateral, 3 hypomelanitic maculae.; no hypotonia; birth feeding problems; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); moderate speech delay (HP:0000750); moderate intellectual disability; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); normal eylashes (-HP:0000499); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463); short philtrum (HP:0000322); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); brachydactyly (HP:000156); small nails 5th only;; ;; inguinal hernia; ventricular septal defect; no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); inguinal hernia (HP:0000023); ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 ARID1B, SMARCA2, SMARCA4, SMARCB1 15 1 Gijs Santen
00016590 - PubMed: Setta-Kaffetzi 2014 - ? no - European - - - - PSORS no plaque psoriasis; generalised pustular psoriasis; no palmar plantar pustulosis; acrodermatitis continua of Hallopeau AP1S3 AP1S3 1 1 Marianne Vos (LOVD-team)
00132812 - the CFTR2 database see CFTR2 database for details - - - - - - - - PSORS - CFTR CFTR 2 1 Johan den Dunnen
00261202 JPP12 PubMed: Farooq 2013 - - - Japan - - - - - PSORS see paper; … IL36RN IL36RN 2 1 Johan den Dunnen
00261203 JPP14 PubMed: Farooq 2013 - - - Japan - - - - - PSORS see paper; … IL36RN IL36RN 2 1 Johan den Dunnen
00307285 GYFAP0014 PubMed: Vergnano 2020, Journal: Vergnano 2020 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) Europe - - - - PSORS 10y-diagnosed with acrodermatitis continua of Hallopeau (localised pustular eruption affecting nails and distal phalanxes); history generalised pustular psoriasis flared during pregnancy (36y/39y) with widespread pustulation, high-fever, severe neutrophilia (>15,000 cells/mm3), elevated CRP levels (>100mg/L); several years quiescent disease on infliximab infusions and oral methotrexate co-therapy, 52y-treatments withdrawn, skin clearance maintained (2y follow up); comorbidities include anxiety and depression BMI 30; no concurrent plaque psoriasis or psoriatic arthritis, no family history of psoriasis MPO MPO 1 1 Johan den Dunnen
00307286 DDPLM0001 PubMed: Vergnano 2020, Journal: Vergnano 2020 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) Europe - - - - PSORS 24y-palmoplantar pustulosis, acrodermatitis continua of Hallopeau with nail loss left hand, chronic plaque psoriasis, psoriatic arthritis, BMI 26, ex-smoker; ciclosporin treatment for 3y with good effect; no family history of psoriasis MPO MPO 1 1 Johan den Dunnen
00307287 SCAR2124 PubMed: Vergnano 2020, Journal: Vergnano 2020 2-generation family, 1 affected, unaffected parents F - Germany - - - - - PSORS 80y-presented with acute generalised exanthematous pustulosis requiring admission to hospital, widespread pustulation, fever, severe neutrophilia (>15,000 cells/mm3); culprit drugs (in order of suspicion) methotrexate, pantoprazole, sultamicillin (ampicillin/sulbactam) MPO MPO 1 1 Johan den Dunnen
00307288 SCAR2567 PubMed: Vergnano 2020, Journal: Vergnano 2020 2-generation family, 1 affected, unaffected parents F - Germany - - - - - PSORS 70y-acute generalised exanthematous pustulosis to hydroxychloroquine, high fever, pustulation requiring admission to hospital; comorbidities giant cell arteritis MPO MPO 2 1 Johan den Dunnen
00314626 FamPatV5 PubMed: Landires 2020 - F yes Colombia Indian - - - - PSORS see paper; ..., onset pelvic, muscle, 29y-still walking, raised CK (10x), contractures elbows, ankles neck and Achilles tendons; inability to climb stairs; not able to stand up from sitting; functional stage V CAPN3 CAPN3 1 1 Johan den Dunnen
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