Systemic lupus erythematosus and other autoimmune disorders in children with Noonan syndrome

Lopez-Rangel, Elena; Malleson, Peter N.; Lirenman, David S.; Roa, Benjamin B.; Wiszniewska, Joanna; Sm, Lewis

doi:10.1002/ajmg.a.31017

Cited by 26 publications

(18 citation statements)

References 29 publications

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“…They also showed partially similar presentations (e.g., age and the presence of serositis). A retrospective review of patients with SLE and a RASopathy phenotype revealed at least six patients with no accompanying genetic information (Alanay, Balc, & Ozen, ; Amoroso et al, ; Cerpa‐Cruz et al, ; Lisbona, Moreno, Orellana, Gratacos, & Larrosa, ; Lopez‐Rangel et al, ; Martin, Gencyuz, & Petty, ). It would be helpful to re‐evaluate these previous patients to determine whether they indeed have pathogenic variants in RASopathy genes, including SHOC2 .…”

Section: Discussionmentioning

confidence: 99%

Systemic lupus erythematosus in a patient with Noonan syndrome‐like disorder with loose anagen hair 1: More than a chance association

Uehara

Hosogaya

Matsuo

et al. 2018

American J of Med Genetics Pt A

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Systemic lupus erythematosus (SLE) has been reported among patients with RASopathy. Five patients have been reported: three with SHOC2 variants, one with a PTPN11 variant, and one with a KRAS variant. SHOC2 variant might represent a relatively common predisposing factor for SLE among the RASopathy genes. However, the clinical details were only reported for two patients, while information on the remaining patient appeared only in a tabular format with minimal clinical description. Here, we report a patient with a SHOC2 variant and SLE. The proband was a 28-year-old male patient with intellectual disabilities, a short stature, dysmorphic facial features, and thin hair. He developed hypertrophic cardiomyopathy and afebrile generalized seizures at the ages of 7 and 18 years, respectively. At the age of 24 years, he presented with a 3-day history of intermittent fever accompanied by right chest pain and a malar butterfly rash. He fulfilled both the American College of Rheumatology (ACR) criteria and the Systemic Lupus International Collaborating Clinics (SLICC) criteria for SLE and was successfully treated with prednisolone. Medical exome sequencing identified a de novo SHOC2 variant (c.4A > G, p.S2G). The present report of a second patient who fulfills both the ACR criteria and the SLICC criteria of SLE. We suggest that the association between SHOC2 variant and SLE represents more than a chance association. In the event of fever of unknown origin in patients with constitutional SHOC2 pathogenic variant, SLE should be suspected.

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Section: Discussionmentioning

confidence: 99%

Systemic lupus erythematosus in a patient with Noonan syndrome‐like disorder with loose anagen hair 1: More than a chance association

Uehara

Hosogaya

Matsuo

et al. 2018

American J of Med Genetics Pt A

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“…There is an estimated recurrence rate of CHB of 8-25% in subsequent pregnancies. 14,17 In our case, the mother did follow up with adult rheumatology and was diagnosed with lupus.…”

Section: Final Diagnosis and Discussion: Neonatal Lupus Erythematosusmentioning

confidence: 66%

“…Reports vary given delays in recognition and transient nature of the rash, but studies report that 15-70% of children with NLE have a rash. 16,17 The rash typically develops around 6 weeks of life and new lesions continue to develop for several months. Generally the rash stops developing after 6 months of age when maternal antibodies disappear from the infant’s circulation.…”

Section: Final Diagnosis and Discussion: Neonatal Lupus Erythematosusmentioning

confidence: 99%

A 3-Day-Old Girl Referred From Her Pediatrician for Oral Ulcerations

2016

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A three-day-old girl was referred from her pediatrician for oral ulcerations. The patient was otherwise well-appearing and afebrile. Her prenatal and antenatal courses were unremarkable, aside from a failed routine hearing screen. The patient’s exam was notable for several yellowish ulcers on erythematous bases located on her anterior tonsillar pillars. The patient also had a right coloboma and a II/VI systolic ejection murmur. Labs revealed a traumatic lumbar puncture with 182,000 red blood cells and 808 white blood cells, as well as a complete blood count with thrombocytopenia and leukocytosis. During the patient’s hospitalization, she developed a new facial rash. Her physical exam findings, along with her diagnostic evaluation and hospital course, ultimately led to two surprising diagnoses elaborated upon in this case discussion.

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“…The renal biopsy in this case had shown finding of diffuse proliferative glomerulonephritis. [7] There is one more reported case of Noonan syndrome with SLE and Class I lupus nephritis in an 11-year-old male patient. [8] There are many other case reports with autoimmune disorders in association with Noonan syndrome, but renal involvement was not present in these cases.…”

Section: Discussionmentioning

confidence: 99%

“…[8] There are many other case reports with autoimmune disorders in association with Noonan syndrome, but renal involvement was not present in these cases. [7] There is one more case reported by Tejani et al ., of an infant who had Noonan syndrome along with advanced renal failure and who had renal dysplasia with cystic disease. [9] The most common genitourinary abnormality seen in NS is cryptorchidism that is seen in up to 80% of boys and orchiopexy is required in many cases.…”

Section: Discussionmentioning

confidence: 99%

Chronic tubulointerstitial nephritis in a solitary kidney of a child with Noonan syndrome

Golay¹,

Pandey²,

Roychowdhary³

2012

Indian J Nephrol

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Systemic lupus erythematosus and other autoimmune disorders in children with Noonan syndrome

Cited by 26 publications

References 29 publications

Systemic lupus erythematosus in a patient with Noonan syndrome‐like disorder with loose anagen hair 1: More than a chance association

Systemic lupus erythematosus in a patient with Noonan syndrome‐like disorder with loose anagen hair 1: More than a chance association

A 3-Day-Old Girl Referred From Her Pediatrician for Oral Ulcerations

Chronic tubulointerstitial nephritis in a solitary kidney of a child with Noonan syndrome

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