Álvarez I, David KP

Language: Spanish
References: 4
Page: 212-214
PDF size: 165.76 Kb.

ABSTRACT

Focal dermal hypoplasia, or Goltz syndrome, is a genodermatosis that affects ectoderm and mesodermal tissue with dominant inheritance linked to X, so it occurs mainly in women, although it can affect males in 10% of cases. Is a rare syndrome, with about 300 cases published in the scientific literature, the exact prevalence worldwide is unknown. It involves the skin, musculoskeletal system, eyes, hair, nails and kidney among others, with considerable variation in clinical trials. We present the case of a six year-old male patient with a compatible phenotype with Goltz syndrome.

REFERENCES

1. Bhaswati G. Subhrajit L y Debabrata N, A case of male goltz syndrome, pediatric medicine, Calcutta National Medical College and Hospital, Kolkata, India, Case Reports in Pediatrics, vol. 2012. Disponible en: https://www.researchgate.net/publication/232766999/download

2. Stevenson DA, Chirpich M, Contreras Y, Hanson H y Dent K, Goltz syndrome and PORCN mosaicism, National Institute of Health, Department of Pediatrics, University of Utah, Salt Lake City, 2014. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4245318/

3. DiSalvo S, Oberman S y Warrick I, Pharyngeal presentation of Goltz syndrome: a case report, Head and Neck Pathol 2016; 10: 188-91. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/ PMC4838964/

4. Sibello S, Méndez T, Fernández R, Miranda Y y Escobar G, Síndrome de Goltz, Revista Cubana de Oftalmología, Instituto Cubano de Oftalmología Ramón Pando Ferrer, 2016; 29(4). Disponible en: .