LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes

Alfurayh, Nuha A.; Alsaif, Fahad; Alballa, Nouf S; Zeitouni, Leena; Ramzan, Khushnooda; Imtiaz, Faiqa; Alakeel, Abdullah

doi:10.1055/s-0039-3400226

Cited by 5 publications

(7 citation statements)

References 26 publications

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“…Leopard syndrome is a rare multiple congenital anomaly with mutation in the PTPN1 gene (Alfurayh et al, 2020) (Pahwa & Sethuraman, 2012). The characteristics of the present case included in this systematic review agree with this information, with the syndrome affecting a 16-year-old boy.…”

Section: Discussionsupporting

confidence: 86%

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Oral pigmented lesions in syndromic individuals: A systematic review

et al. 2021

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Objective: To systematically integrate the available data published in the literature on oral pigmented lesions (OPL) associated with syndromes, summarizing the clinical and demographic features of the individuals. Materials and Methods:An electronic search was undertaken in six databases.Eligibility criteria were articles in English, Spanish, and Portuguese describing case reports or case series of OPL associated with syndromes. Data were aggregated and statistically evaluated. Results: About 108 articles reporting 149 cases of individuals with syndromes were identified. Among the affected individuals, nine syndromes were reported. The mean age at diagnosis was 35.93 years (0.41 to 83 years), with a predilection for white (n = 85/85.86%) female (n = 102/68.46%) individuals. As regards the number of lesions, 109 (73.15%) were multiple and 40 (26.85%) were single. Lip represented the anatomical location more affected (122 cases/38.01%), followed by the buccal mucosa (100 cases/31.15%). Brownish lesions accounted for 82 (69.49%) cases. The mean time of evolution was 10.52 years (0.16 to 56 years). OPL preceding diagnosis of the syndrome was observed in 111 (74.50%) cases. Conclusions: Although these syndromes are uncommon, dentists should be able to recognize their manifestations, since oral manifestations can represent an important aspect in early diagnosis.

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Section: Discussionsupporting

confidence: 86%

“…Leopard syndrome is a rare multiple congenital anomaly with mutation in the PTPN1 gene (Alfurayh et al., 2020). Since clinical manifestations are variable, a molecular test is necessary for the diagnosis of LS.…”

Section: Discussionmentioning

confidence: 99%

Oral pigmented lesions in syndromic individuals: A systematic review

et al. 2021

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“…To the best of our knowledge, this is the second report with a documented PTPN11 gene mutation in Saudi Arabia, after the first one being reported by Alfurayh et al [ 3 ] A comparison of the clinical features of the other cases reported in Saudi Arabia is shown in Table 1 .…”

Section: Discussionmentioning

confidence: 86%

LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient

Alshamrani,

Assaedi,

Bahattab

et al. 2023

Case Reports in Dermatological Medicine

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LEOPARD syndrome (LS) is a rare autosomal dominant inherited or sporadic genetic disorder caused commonly by missense mutations in the protein-tyrosine phosphatase-nonreceptor type 11 (PTPN11) gene. Due to its rarity and a high chance of misdiagnosis, the epidemiological profile of LS is poorly established. To the best of our knowledge, this is the second report with a documented PTPN11 gene mutation in Saudi Arabia.

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“…LEOPARD (OMIM #151,100), also known as neuro-cardio-cutaneous (NCFC) syndrome, is a rare autosomal dominant disease that is characterized by multisystemic disorders and typical germline PTPN11 mutations [ 2 – 4 , 12 , 16 ]. Approximately 85% of patients with LEOPARD syndrome harbor a missense mutation in the PTPN11 gene, two of which Tyr279Cys and Thr468 Met account for 65% of cases [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

Leopard syndrome: the potential cardiac defect underlying skin phenotypes

et al. 2021

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LEOPARD syndrome (OMIM #151,100) caused by a germline PTPN11 mutation are characterized as multisystemic anomalies and variable marked phenotypes such as multiple lentigines and cafe´-au-lait spots, electrocardiographic conduction abnormalities, ocular hypertelorism/obstructive cardiomyopathy, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness. Phenotype overlap complicates clinical discrimination within RASopathies, making the diagnosis of LEOPARD more confusing and challenging. Besides, LEOPARD patients do not usually present with all these typical clinical features, increasing the possibility of underdiagnosis or misdiagnosis.Herein, we report a case of LEOPARD syndrome in a patient who only presented with pigmented skin spots and was initially diagnosed with multiple acquired melanocytic nevi. Subsequent pathological examination confirmed the diagnosis of multiple lentigines rather than melanocytic nevi. A genetic study showed a germline PTPN11 (Tyr279Cys) mutation and raised the suspicion of LEOPARD syndrome. A subsequent ECG examination detected potential cardiac defects and confirmed the diagnosis of LEOPARD. We considered that the potential damage of other systems underlying the skin multiple lentigines should not be ignored. The diagnosis of LEOPARD syndrome in an early stage before cardiac damage has reached a serious and irreversible stage can be meaningful for patients to fully understand the potential risks, complications and prognosis of the disease and to take appropriate precautions to prevent the potential risk of cardiac damage.

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LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes

Cited by 5 publications

References 26 publications

Oral pigmented lesions in syndromic individuals: A systematic review

Oral pigmented lesions in syndromic individuals: A systematic review

LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient

Leopard syndrome: the potential cardiac defect underlying skin phenotypes

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