2014
DOI: 10.1007/s00431-013-2243-9
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Leopard syndrome: a report of five cases from one family in two generations

Abstract: the clinical diagnosis of LS should be molecularly confirmed in the patient.

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Cited by 12 publications
(5 citation statements)
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“…Specific PTPN11 missense mutations are now found in about 95% of cases . Dark‐brown ML are the diagnostic clue and our results confirm their high frequency in 94% of patients with PTPN11 ‐NSML over the age of 1 year . In our study, diffuse ML (> 100) on the cephalic extremity appeared to increase in adulthood and were consistently associated with PTPN11 mutations, discriminating this phenotype from all other NS cutaneous phenotypes.…”
Section: Discussionsupporting
confidence: 84%
See 1 more Smart Citation
“…Specific PTPN11 missense mutations are now found in about 95% of cases . Dark‐brown ML are the diagnostic clue and our results confirm their high frequency in 94% of patients with PTPN11 ‐NSML over the age of 1 year . In our study, diffuse ML (> 100) on the cephalic extremity appeared to increase in adulthood and were consistently associated with PTPN11 mutations, discriminating this phenotype from all other NS cutaneous phenotypes.…”
Section: Discussionsupporting
confidence: 84%
“…Some of the previously reported cases of RAF1 ‐NSML were possibly associated with MMN rather than ML, and in three observations were documented with images; the relatively low density and sparse distribution of the pigmented lesions seems to support this hypothesis. However, MMN were not reported in a series of PTPN11 ‐NSML and were present in only 6% of cases in our study. These findings might justify including MMN, and not only ML, in the spectrum of pigmented lesions of NSML and suggest that, in a context of suspicion of NSML, the presence of MMN may be a marker of RAF1 mutation.…”
Section: Discussioncontrasting
confidence: 83%
“…Among them are 2 frequently recurring ones----Y279C and T468M----that have been found in over half of patients with NSML. 2,9,10 Of patients who have been found to be negative for PTPN11 mutation, a third have RAF1 (Raf-1 proto-oncogene, serine/threonine kinase) mutations and fewer than 5% have BRAF (B-Raf) mutations. 7 There is a certain correlation between genotype and phenotype, such that patients who are negative for PTPN11 mutation tend to have a higher prevalence of cardiac conduction abnormalities, left ventricular or atrial hypertrophy, and a family history of sudden death, whereas patients who are PTPN11-mutation positive (exon 13) have greater risk of hypertrophic myocardiopathy and severe cardiac complications; mutation in exon 7 is more often associated with delayed growth and deafness, and BRAF mutations confer greater risk of cognitive disorders.…”
Section: Discussionmentioning
confidence: 99%
“…A total of 17 articles on C.836A/G were retrieved, and 31 cases of C.836A/G were analyzed and collated, of which 26 of the cases were reported abroad (11-23) and 5 were reported in China (24)(25)(26)(27). Among the cases, a case reported in Japan was combined with Marfan syndrome (19), a case in Britain ( 14) and a case in Germany (15) were combined with acute myeloid leukemia, and a case in Bosnia and Herzegovina was combined with growth hormone deficiency (GHD) (18). In all the above reports, the treatment was mainly aimed at the correction of abnormal cardiac structures and abnormal genitalia, the cosmetic treatment of lentigines, and chemotherapy for leukemia.…”
Section: Discussionmentioning
confidence: 99%