Literature DB >> 9222968

Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).

B D Coppin1, I K Temple.   

Abstract

The multiple lentigines syndrome is an autosomal dominant condition which has many similarities to Noonan syndrome, except in the most striking feature from which its name is derived. The less neutral but very apt mnemonic, LEOPARD syndrome, was first used by Gorlin et al to whom the major debt in the definition of this syndrome lies, that is, Lentigines, ECG abnormalities, Ocular hypertelorism/Obstructive cardiomyopathy, Pulmonary valve stenosis, Abnormalities of genitalia in males, Retardation of growth, and Deafness. Not previously included in the mnemonic is cardiomyopathy which is an important feature because it is associated with significant mortality.

Entities:  

Mesh:

Year:  1997        PMID: 9222968      PMCID: PMC1051000          DOI: 10.1136/jmg.34.7.582

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  25 in total

1.  Multiple Symmetrical Moles, with Psychic and Somatic Infantilism and Genital Hypoplasia: First Male Case of a New Syndrome.

Authors:  E J Moynahan
Journal:  Proc R Soc Med       Date:  1962-11

2.  Lentigo and electrocardiographic changes.

Authors:  N L Matthews
Journal:  N Engl J Med       Date:  1968-04-04       Impact factor: 91.245

3.  Multiple lentigenes syndrome.

Authors:  R J Gorlin; R C Anderson; M Blaw
Journal:  Am J Dis Child       Date:  1969-06

4.  Giant melanosomes in multiple lentigines syndrome.

Authors:  L W Weiss; A S Zelickson
Journal:  Arch Dermatol       Date:  1977-04

5.  Lentiginosis profusa syndrome (multiple lentigines syndrome).

Authors:  V J Selmanowitz; N Orentreich; J M Felsenstein
Journal:  Arch Dermatol       Date:  1971-10

6.  Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome.

Authors:  R Wu; E Legius; W Robberecht; M Dumoulin; J J Cassiman; J P Fryns
Journal:  Hum Mutat       Date:  1996       Impact factor: 4.878

7.  Hypertrophic obstructive cardiomyopathy and lentiginosis: a little known neural ectodermal syndrome.

Authors:  M G St John Sutton; A J Tajik; E R Giuliani; H Gordon; W P Su
Journal:  Am J Cardiol       Date:  1981-02       Impact factor: 2.778

8.  Secondary hypertrophic cardiomyopathy in infancy and childhood.

Authors:  L E Alday; E Moreyra
Journal:  Am Heart J       Date:  1984-10       Impact factor: 4.749

9.  Accumulation of membrane-bound melanosomes occurs in Langerhans cells of patients with the Leopard syndrome.

Authors:  P R Fryer; F M Pope
Journal:  Clin Exp Dermatol       Date:  1992-01       Impact factor: 3.470

10.  Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus.

Authors:  B E Ahlbom; N Dahl; P Zetterqvist; G Annerén
Journal:  Clin Genet       Date:  1995-08       Impact factor: 4.438

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  15 in total

Review 1.  Human-induced pluripotent stem cells: in quest of clinical applications.

Authors:  Rosalinda Madonna
Journal:  Mol Biotechnol       Date:  2012-10       Impact factor: 2.695

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

Authors:  Kamini Kalidas; Adam C Shaw; Andrew H Crosby; Ruth Newbury-Ecob; Lynn Greenhalgh; Isabel K Temple; Caroline Law; Amisha Patel; Michael A Patton; Steve Jeffery
Journal:  J Hum Genet       Date:  2004-12-10       Impact factor: 3.172

3.  A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1-q22.3.

Authors:  Qinghe Xing; Xiangdong Chen; Mingtai Wang; Wenjie Bai; Xin Peng; Rui Gao; Shengnan Wu; Xueqing Qian; Wei Qin; Jianjun Gao; Guoyin Feng; Lin He
Journal:  Hum Genet       Date:  2005-04-20       Impact factor: 4.132

4.  PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".

Authors:  M Cristina Digilio; Anna Sarkozy; Giuseppe Pacileo; Giuseppe Limongelli; Bruno Marino; Bruno Dallapiccola
Journal:  Eur J Pediatr       Date:  2006-05-30       Impact factor: 3.183

Review 5.  Peutz-Jeghers syndrome.

Authors:  I P Tomlinson; R S Houlston
Journal:  J Med Genet       Date:  1997-12       Impact factor: 6.318

6.  [Sensorineural hearing loss in LEOPARD syndrome].

Authors:  T Schrom; A Habermann; H Scherer
Journal:  HNO       Date:  2006-03       Impact factor: 1.284

7.  Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome.

Authors:  Ho-Suk Chu; Hae-Sun Chung; Moon-Hee Ko; Hee-Jin Kim; Chang-Seok Ki; Won-Ho Chung; Yang-Sun Cho; Sung Hwa Hong
Journal:  Clin Exp Otorhinolaryngol       Date:  2011-02-07       Impact factor: 3.372

8.  Costello syndrome: clinical diagnosis in the first year of life.

Authors:  M Cristina Digilio; Anna Sarkozy; Rossella Capolino; M Beatrice Chiarini Testa; Giorgia Esposito; Andrea de Zorzi; Renato Cutrera; Bruno Marino; Bruno Dallapiccola
Journal:  Eur J Pediatr       Date:  2007-08-29       Impact factor: 3.183

9.  Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

Authors:  Maria Cristina Digilio; Emanuela Conti; Anna Sarkozy; Rita Mingarelli; Tania Dottorini; Bruno Marino; Antonio Pizzuti; Bruno Dallapiccola
Journal:  Am J Hum Genet       Date:  2002-06-07       Impact factor: 11.025

10.  Atrial myxoma in a patient with hypertrophic cardiomyopathy.

Authors:  Mahmoud Abdou; Salim Hayek; Byron R Williams
Journal:  Tex Heart Inst J       Date:  2013
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