medigraphic.com
ISSN 1405-1710 (Print)

2014, Number 1

<< Back Next >>

Rev Cent Dermatol Pascua 2014; 23 (1)

Focal dermal hypoplasia (Goltz syndrome)

Morales BME, Ramos GA, Gaxiola ÁE, Barrera PM

Language: Spanish
References: 12
Page: 11-16
PDF size: 281.90 Kb.


ABSTRACT

Focal dermal hypoplasia, also known as Goltz syndrome (OMIM 305600), is an X-linked dominant genodermatoses that affects ectodermal and mesodermal tissue. Due to its inheritance pattern, most patients are women, but 10% are men. This disease is associated with mutations in the PORCN gene located at Xp11.23. Clinically, it is characterized by cutaneous, ocular, dental, skeletal and soft-tissue anomalies. We present the case of a 16-year-old female patient diagnosed with Goltz syndrome. The case report is followed by a short review of literature.


REFERENCES

  1. Souza-e-Souza I, Cunha PC. Síndrome de Goltz: relato de dos casos. An bras Dermatol. 2003; 78(1): 91-97.

  2. Oyanguren R, Wurgaft R. Hipoplasia focal ectodérmica o síndrome de Goltz. Manejo ortopédico temporomandibular. Int J Odontostomat. 2009; 3(1): 79-85.

  3. Acosta JC, Motta A, Prieto JC. Hipoplasia dérmica focal (síndrome de Goltz): amplia variabilidad fenotípica. Rev Argent Dermatol. 2009; 90: 224-229.

  4. Riyaz N, Riyaz A, Chandran R et al. Focal dermal hypoplasia (Goltz syndrome). IJDVL. 2005; 71(4): 279-281.

  5. Gammaz H, Amer H, Adly A et al. Focal dermal hypoplasia (Goltz Syndrome): a case report and review of literature. EDOJ. 2010; 6(1): 13.

  6. Chico AB, Saleme C, Juárez F et al. Hipoplasia dérmica focal. Dermatología Argentina. 2011; 17(4): 306-309.

  7. Murakami C, Lira OAO, Guimaraes AS et al. Focal dermal hypoplasia: a case report and literature review. Oral Surg Oral Med Pathol Oral Radiol Endod. 2011; (112): d11-e18.

  8. Wu MC, Chao SC, Lee JYY. Focal dermal hypoplasia: report of a Taiwanese case. Dermatológica Sinica. 2011; 29: 59-62.

  9. Tapia JM, Rodríguez IM, Casanova M et al. Síndrome de Goltz: aportación de un caso en un varón. An Esp Pediatr. 1998; 49: 513-515.

  10. Ruggier VL, Arberas CL. Síndromes genéticos reconocibles en el periodo neonatal. Medicina (Buenos Aires). 2009; 69(1/1): 15-35.

  11. Lasocki AL, Stark Z, Orchard D. A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient. Australasian J Dermatol. 2011; 52: 48-51.

  12. Tenkir A, Teshome S. Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report. BMC Ophthalmology. 2010; 10(28): 1-3.




2020     |     www.medigraphic.com