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PubMed2003

[Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome].

BACKGROUND AND OBJECTIVE: LEOPARD syndrome (MIM #151100) is a rare autosomal dominant condition with characteristic skin anomalies, facial dysmorphism, hypertelorism, cardiac anomalies, and occasional conductive hearing loss. Mutations in the PTPN11 gene are described as the causal gene defect for the clinical features of Noonan syndrome (MIM #163950), but also for LEOPARD syndrome. For confirmation of the clinical diagnosis of multiple lentigines syndrome, the molecular genetic mutation analysis in the PTPN11 gene could be helpful. PATIENTS/METHODS: We report on a family with LEOPARD syndrome in which the mutation analysis in the father and his daughter in the PTPN11 gene was carried out us:ng PCR, DHPLC, and automated sequencing. RESULTS: We could identify both father and daughter as carriers of the mutation Y279C in the PTPN11 gene, which is known as a disease-related mutation. CONCLUSIONS: The allelic affinity to Noonan syndrome could thus be further supported.

Alleles↗
PubMed2006

Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).

The LEOPARD syndrome is a complex of multisystemic congenital abnormalities characterized by lentiginosis, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness (sensorineural). Mutations in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located on chromosome 12q24.1, have been identified in 88% of patients with LEOPARD syndrome. A missense mutation (836-->G; Tyr279Cys) in exon 7 of PTPN11 gene was identified in this patient and his mother with LEOPARD syndrome. This mutation is one of the two recurrent mutations most often associated with the syndrome. Leukemia has not previously been reported in patients with LEOPARD syndrome. The authors describe a 13-year-old boy diagnosed with both LEOPARD syndrome and acute myelomonocytic leukemia (AML-M4).

Adolescent↗
PubMed2004

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

LEOPARD syndrome (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) is an autosomal dominant condition. The main clinical features include multiple lentigines, cardiovascular defects, and facial anomalies, some of which are shared with Noonan syndrome (NS). Recent reports have shown that LEOPARD syndrome can be caused by mutations in PTPN11, the gene in which mutations can produce NS. Here we report the findings of mutation screening and linkage analysis of PTPN11 in three families with LEOPARD syndrome. We identified a novel mutation in one family. The mutation (1529A>C) substitutes proline for glutamine at amino acid 510 (Gln510Pro). No variations in sequence were observed in the other two families, and negative LOD scores excluded linkage to the PTPN11 locus, showing that LEOPARD syndrome is genetically heterogeneous.

Adolescent↗
PubMed1984

[Multiple lentigines syndrome. Apropos of 2 cases. Critical study of the leopard syndrome].

With regard to 2 cases of a same family associating: multiple lentigos, osseous signs and impairment of E.C.G., the authors recall the differents visceral manifestations which can be associated to lentigos and the relative frequency of every one of them. The authors report 38 indisputable observations of the literature that associated the 2 criterions: multiple lentigos symmetrical in their distribution and histological confirmation of sun spots. The authors perfer the term: multiple lentigos syndrome to the LEOPARD syndrome. The last term (LEOPARD), in spite of his attractive character contains a part of possible associated signs (osseous signs, primordial in our observations, are not present in that syndrome). But another way, contrary to, not any observation, up to now, allowed all the symptomes present in the acrostic LEOPARD. Through it should appear difficult to define actually the scope of the multiple lentigos syndrome, the knowledge of that entity offers a real interest for the dermopath: the discovery of a symmetrical lentiginosis, extensive or not, must lead to the exploration, as well as possible, of organs susceptible to be out of order: heart, nervous system and hearing, skeleton and facial malformations, genital-organs, and also to a family inquiry.

Abnormalities, Multiple↗
PubMed2005

PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.

This review summarizes PTPN11 (protein-tyrosine phosphatase, nonreceptor type 11) mutations and genotype-phenotype correlations in Noonan syndrome (NS) and LEOPARD syndrome (LS). PTPN11 mutations have been identified in approximately 40% of NS patients and in >80% of LS patients. Since the vast majority of mutations reside in and around the broad intramolecular interaction surface between the N-SH2 and PTP domains of the PTPN11 protein, they have been suggested to affect the intramolecular N-SH2/PTP binding in the absence of a phosphopeptide, leading to excessive phosphatase activities. The type of mutations is diverse in NS and limited in LS, and is almost mutually exclusive between NS and LS. Clinical assessment in NS patients implies that cardiovascular anomalies and hematologic abnormalities are predominant in mutation positive patients, hypertrophic cardiomyopathy is predominant in mutation negative patients, and growth deficiency, mental retardation, and minor somatic anomalies are similar between the two groups of patients. Phenotypic evaluation in LS patients suggests that a hypertrophic cardiomyopathy rather than an electrocardiographic conduction abnormality is characteristic of PTPN11 mutation positive patients.

Cardiomyopathy, Hypertrophic↗
PubMed2006

[Sensorineural hearing loss in LEOPARD syndrome].

The rare multiple lentigines (LEOPARD) syndrome represents a complex of skin, cardiac, skeletal, inner ear and other malformations. There is marked variability in expression of the syndrome. We report on a 20 year old man, showing typical lentiginosis, a retardation of growth, tachycardiac conduction abnormality, ophthalmologic manifestations and a sensorineural hearing loss. Pathogenesis, clinical and differential diagnostic aspects are discussed in this case report. The early diagnosis of a senosorineural hearing loss is useful in order to provide appropriate rehabilitation. When lentiginosis is diagnosed, it is important to consider further abnormalities such as cardiomyopathy, which can be associated with a high mortality.

Adult↗
PubMed2004

LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease.

LEOPARD syndrome, one of many cardiocutaneous syndromes, is an acronym for some of the obvious manifestations of the disease, such as lentigines or ocular hypertelorism. The synonymous name progressive cardiomyopathic lentiginosis better indicates the morbid cardiac features that patients with the syndrome have. A patient with LEOPARD syndrome is presented. He had recurrent upper extremity aneurysms requiring multiple operations and finally PTFE reinforced venous grafts to prevent further aneurysmal degeneration. He has multiple other peripheral aneurysms, thus far asymptomatic. His diagnosis of LEOPARD syndrome was confirmed on a genetic basis. Review of the literature reveals no previous reports of severe aneurysmal disease in these patients.

Adult↗
PubMed1989

[Progressive cardiomyopathic lentiginosis (Leopard syndrome, Moynahan syndrome)].

In connection of a sporadic and three familary cases a syndrome involving the skin, heart, eyes, bone-system, hearing organs and genitales is presented. As leading sign of the syndrome, profuse lentigiosis is held to be. Based on this finding, involvement of the other organs may occur too. Specialty of our cases is Marfan-syndrome associated with Leopard syndrome, and blood-vessel anomaly as a new alteration.

Adolescent↗
PubMedDate not supplied

An intriguing case of LEOPARD syndrome.

We report a 9-year-old boy affected by LEOPARD syndrome, who also had ichthyosis, axillary freckling, two café au lait spots, and one neurofibroma. The diagnosis of LEOPARD syndrome has been made on clinical grounds, whereas the ichthyosis and neurofibroma have been histologically confirmed. The analogies between LEOPARD syndrome and neurofibromatosis have been discussed. Finally, we maintain this case is an example of the multiple lentigines syndrome/LEOPARD syndrome spectrum.

Abnormalities, Multiple↗
PubMed2001

[LEOPARD syndrome with iris-retina-choroid coloboma. Discordant findings in monozygotic twins (MIM # 151 100)].

INTRODUCTION: The LEOPARD syndrome is an autosomal dominant inherited disease with severe lentiginosis associated with various abnormalities such as electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retardation of growth and deafness. Ocular manifestations such as coloboma of the iris, the retina and the choroid have not been reported so far. PATIENTS: We report the cases of two 10-year-old identical twins and their mother, showing typical manifestations consistent with the LEOPARD syndrome. Additionally, colobomas of the iris, the retina and the choroid were detected. RESULTS: In addition to the findings typical for the LEOPARD syndrome, we observed unusual ocular abnormalities in all three patients. It represents a discordant phenotype in monozygotic twins. CONCLUSION: LEOPARD syndrome is a disease with multiple alterations and abnormalities. Although ocular malformations seem to be rare, an ophthalmological examination is recommended in order to initiate early visual rehabilitation.

Adult↗
PubMedDate not supplied

LEOPARD syndrome and hypertrophic obstructive cardiomyopathy: a case report.

The LEOPARD syndrome is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, ocular hypertelorism, abnormal genitalia, growth retardation, sensorineural deafness, and cardiac and electrocardiographic abnormalities. Although it is not cited, hypertrophic cardiomyopathy is often associated with the disease. In this study, we present a nine-year-old boy with LEOPARD syndrome and hypertrophic obstructive cardiomyopathy.

Cardiomyopathy, Hypertrophic↗
PubMed2004

Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.

BACKGROUND: Nonsyndromic hypertrophic cardiomyopathy (HCM) is a primary cardiac disease transmitted as an autosomal dominant trait. Multiple chromosomal loci have been found to be involved in the etiology of this defect. LEOPARD syndrome is a genetic condition characteristically associated with HCM. Additional features of the syndrome include multiple lentigines, facial anomalies, sensorineural deafness, and growth retardation. Mutations in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located at chromosome 12q24, have been identified in patients with LEOPARD syndrome. CASES: We report here on a patient with HCM presenting with classic clinical features of LEOPARD syndrome, whose father also has HCM, but lacks phenotypic anomalies of the syndrome. Molecular analysis searching for PTPN11 mutations was performed in this family. A missense mutation (836A-->G; Tyr279Cys) in exon 7 of PTPN11 gene was identified in the patient with LEOPARD syndrome, whereas no mutation in PTPN11 gene was detected in the father or in additional family members. CONCLUSIONS: Aggregation of syndromic and nonsyndromic HCM in the same family is an unusual pattern of recurrence. Although genetic heterogeneity of LEOPARD and nonsyndromic HCM is not disputed, the existence of peculiar interactions linking genes causing nonsyndromic HCM and HCM in LEOPARD syndrome can be hypothesized. Different genes can work together, and a more severe cardiac phenotype can be due to additive effects. The involvement of familial susceptibility to specific cardiac malformations based on the presence of common predisposing factors can also be considered. Further molecular studies may shed light on these observations.

Adult↗
PubMed1979

[LEOPARD syndrome].

Three cases of LEOPARD-syndrome are presented. A review of literature is given. Among the symptoms of the syndrome lentigines, ECG-abnormalities, pulmonal-stenosis, retardation of growth and deafness show the strongest penetrance and are most constantly found.

Abnormalities, Multiple↗
PubMed1983

[The leopard syndrome, a cardio-cutaneous syndrome].

A patient with the "leopard" syndrome presented with cardiomyopathy and a large arteriovenous shunt of the left renal vessels. The skin manifestations included multiple lentigines, junctional naevi, blue naevi, and one malignant lentigo. This syndrome is a rare entity, but in all patients with multiple lentigines the possibility of associated cardiovascular changes should be considered. In addition, regular monitoring of the pigmented lesions should be performed because of the increased risk of development of malignant melanoma.

Adult↗
PubMed1990

[Progressive cardiomyopathic lentiginosis (LEOPARD syndrome) in 3 patients, combined with Marfan syndrome].

We report on 4 cases of profuse lentiginosis (LEOPARD syndrome); 3 of these were familial and associated with Marfan's syndrome. This combination has, to the best of our knowledge, never been mentioned before. In addition we found alterations of the blood vessels never described so far. Our 4th patient is an 18-year-old girl sporadically suffering from LEOPARD syndrome.

Abnormalities, Multiple↗
PubMed1990

LEOPARD syndrome: death because of chronic respiratory insufficiency.

Most patients with LEOPARD syndrome (L--lentigines, E--electrocardiographic conduction defects, O--ocular hypertelorism, P--pulmonary stenosis, A--abnormalities of genitalia, R--retardation of growth, D--deafness) seem to lead a relatively normal life, cardiomyopathy being the cause of death in a few. We describe a 19-year-old woman with an extreme form of the syndrome requiring correction of her thoracic deformities and cardiac defects, succumbing ultimately to respiratory insufficiency. The respiratory insufficiency was secondary to her deformed thorax, with the congenital heart defect contributing to the development of pulmonary hypertension. The ventilatory status of LEOPARD syndrome patients may require careful assessment.

Abnormalities, Multiple↗