Dermatology clinical case

Authors

  • Liliana Sá Department of Pediatrics and Neonatology, Centro Hospitalar Entre Douro e Vouga https://orcid.org/0000-0001-6324-2849
  • Teresa Pena Department of Pediatrics and Neonatology, Centro Hospitalar Entre Douro e Vouga https://orcid.org/0000-0002-3990-4619
  • Sónia Almeida Department of Pediatrics, Centro Hospitalar do Baixo Vouga https://orcid.org/0000-0003-4849-7493
  • Maria Adriana Rangel Pediatric Endocrinology and Diabetology Unit, Department of Pediatrics, Centro Hospitalar de Vila Nova de Gaia e Espinho https://orcid.org/0000-0002-6130-2446
  • Rosa Arménia Campos Pediatric Endocrinology and Diabetology Unit, Department of Pediatrics, Centro Hospitalar de Vila Nova de Gaia e Espinho
  • Ana Luísa Leite Pediatric Endocrinology and Diabetology Unit, Department of Pediatrics, Centro Hospitalar de Vila Nova de Gaia e Espinho https://orcid.org/0000-0003-2616-5324

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v31.i2.23217

Abstract

Multiple lentigines (LEOPARD) syndrome is an inherited autosomal dominant disorder. LEOPARD is an acronym for the most important features of the disease: multiple lentiginous lesions, abnormal electrocardiogram, ocular hypertelorism, pulmonary stenosis, genital and reproductive abnormalities, growth retardation, and sensorineural deafness. Herein is reported the case of a 14-year-old male who presented with short stature and alopecia. The mother, maternal grandmother, and aunts had multiple lentigines all over the body and hypoacusia. Systemic examination revealed short stature, alopecia reaching over 90% of the scalp, trachyonychia, multiple lentigines mostly scattered over the trunk, four café-au-lait spots, pectus excavatum, grade II/VI systolic heart murmur, and Tanner stage G2P1A1. The genetic study confirmed LEOPARD syndrome diagnosis. Early diagnosis is useful for prospective management of associated medical conditions and genetic counseling.

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References

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Published

2022-06-30

How to Cite

1.
Sá L, Pena T, Almeida S, Rangel MA, Campos RA, Leite AL. Dermatology clinical case. REVNEC [Internet]. 2022Jun.30 [cited 2022Dec.5];31(2):178-80. Available from: https://revistas.rcaap.pt/nascercrescer/article/view/23217

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Section

Imaging Cases

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