Leopard syndrome: a report of five cases from one family in two generations

Begic, Fatima; Tahirović, Husref; Kardasevic, Mediha; Kalev, Ingrid; Muru, Kai

doi:10.1007/s00431-013-2243-9

Cited by 12 publications

(5 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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%

See 1 more Smart Citation

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

Bessis

Miquel

Bourrat³

et al. 2019

Br J Dermatol

View full text Add to dashboard Cite

Summary Background Data on dermatological manifestations of Noonan syndrome (NS) remain heterogeneous and are based on limited dermatological expertise. Objectives To describe the dermatological manifestations of NS, compare them with the literature findings, and test for dermatological phenotype–genotype correlations with or without the presence of PTPN11 mutations. Methods We performed a large 4‐year, prospective, multicentric, collaborative dermatological and genetic study. Results Overall, 129 patients with NS were enrolled, including 65 patients with PTPN11‐NS, 34 patients with PTPN11‐NS with multiple lentigines (NSML), and 30 patients with NS who had a mutation other than PTPN11. Easy bruising was the most frequent dermatological finding in PTPN11‐NS, present in 53·8% of patients. Multiple lentigines and café‐au‐lait macules (n ≥ 3) were present in 94% and 80% of cases of NSML linked to specific mutations of PTPN11, respectively. Atypical forms of NSML could be associated with NS with RAF1 or NRAS mutations. In univariate analysis, patients without a PTPN11 mutation showed (i) a significantly higher frequency of keratinization disorders (P = 0·001), including keratosis pilaris (P = 0·005), ulerythema ophryogenes (P = 0·0001) and palmar and/or plantar hyperkeratosis (P = 0·06, trend association), and (ii) a significantly higher frequency of scarce scalp hair (P = 0·035) and scarce or absent eyelashes (P = 0·06, trend association) than those with PTPN11 mutations. Conclusions The cutaneous phenotype of NS with a PTPN11 mutation is generally mild and nonspecific, whereas the absence of a PTPN11 mutation is associated with a high frequency of keratinization disorders and hair abnormalities.

show abstract

Section: Discussionsupporting

confidence: 84%

Section: Discussioncontrasting

confidence: 83%

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

Bessis

Miquel

Bourrat³

et al. 2019

Br J Dermatol

View full text Add to dashboard Cite

show abstract

“…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%

LEOPARD Syndrome Without Hearing Loss or Pulmonary Stenosis: A Report of 2 Cases

Ramos-Geldres

Dávila‐Seijo

Duat-Rodríguez

et al. 2015

Actas Dermo-Sifiliográficas (English Edition)

View full text Add to dashboard Cite

LEOPARD syndrome is an autosomal dominant disease caused by germline mutations in the RAS-MAPK (mitogen-activated protein kinase) pathway. LEOPARD is an acronym for the main manifestations of the syndrome, namely, multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and sensorineural Deafness. None of these characteristic features, however, are pathognomonic of LEOPARD syndrome, and since they are highly variable, they are often not present at the time of diagnosis. We describe 2 cases of LEOPARD syndrome without hearing loss or pulmonary stenosis in which diagnosis was confirmed by identification of a mutation in the PTPN11 gene. Regular monitoring is important for the early detection of complications, as these can occur at any time during the course of disease.

show abstract

“…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%

Recombinant human growth hormone in the treatment of C.836A/G-caused short stature in a girl: a case report and literature review

2022

View full text Add to dashboard Cite

Background: When we treated the C.836A/G-caused short stature girls with rhGH (recombinant growth hormone) for short stature, the effect of height improvement was good, but in the course of treatment, there was a side effect of leukopenia, which led to the interruption of treatment. We consult the literature, did not find such relevant reports, therefore, the objective of this study is to share the novel treatment method of C.836A/G-caused short stature and report the treatment response and adverse events of the child with C.836A/G-caused short stature.Case Description: The clinical data of 1 child with C.836A/G-caused short stature were collected, and the efficacy of rhGH in the treatment of this child was observed. The female child aged 5 years and 5 months old was treated at our hospital for growth retardation of >5 years. The child was a slightly picky eater, had good sleep quality (she often fell asleep after 21:00), and did not exercise much before the age of 3-4 years.Routine blood results and other relevant indicators were also monitored during the treatment. The growth rate of the child was followed up over a period of 16 months using needle withdrawal, and routine blood examinations were conducted regularly. With the application of rhGH, the child with C.836A/G-caused short stature gained 9.6 cm in height at 11 months, and had a height of standard deviation score of -1.01.Throughout the treatment, the blood hemoglobin and platelets of the child were normal, but the content of the granulocytes was lower than the normal value. Some 16 months after the discontinuation of the rhGH therapy, the granulocytes gradually returned to the normal range, but the growth rate of the child declined obviously.Conclusions: Recombinant growth hormone treatment of this case of C.836A/G-caused short stature is effective, but in the course of treatment, we need to pay attention to the side effects of the hematological system. Due to our limited clinical experience with these cases, please correct us for any inaccuracies.

show abstract

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.

Cited by 12 publications

References 10 publications

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

LEOPARD Syndrome Without Hearing Loss or Pulmonary Stenosis: A Report of 2 Cases

Recombinant human growth hormone in the treatment of C.836A/G-caused short stature in a girl: a case report and literature review

Contact Info

Product

Resources

About