Goltz syndrome

Authors

  • Catherine Alba
  • Mónica Novoa
  • Ivonne Bohórquez
  • Antonio Barrera

Keywords:

Focal dermal hypoplasia, X chromosome, syndactyly.
Abstract Authors References How to Cite Downloads

Abstract

Focal dermal hypoplasia, also known as Goltz syndrome, is a rare dominant genodermatosis linked to the X chromosome, which affects ectodermal and mesodermal tissues. It is characterized dermatologically by striae, congenital dermal atrophy with lineal or reticulated distribution, hypopigmented or hyperpigmented lesions along the lines of Blaschko, with frequent prominent telangiectasias and nodules. It may be associated to systemic manifestations, such as bone and dental malformations. We present two clinical cases of this syndrome in a mother and her daughter.

Author Biographies

Catherine Alba

Médica, residente de Dermatología, Fundación Universitaria de Ciencias de la Salud-FUCS, Hospital de San José, Bogotá, D.C., Colombia.

Mónica Novoa

Dermatóloga pediatra; docente, Programa de Posgrado de Dermatología, Fundación Universitaria de Ciencias de la Salud-FUCS, Hospital de San José, Bogotá, D.C., Colombia.

Ivonne Bohórquez

Médica, residente de Dermatología, Fundación Universitaria de Ciencias de la Salud-FUCS, Hospital de San José, Bogotá, D.C., Colombia

Antonio Barrera

Dermatólogo pediatra; docente, Programa de Posgrado de Dermatología, Fundación Universitaria de Ciencias de la Salud-FUCS, Hospital Infantil Universitario de San José, Bogotá, D.C., Colombia.

References

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2. Bree AF, Grange DK, Hicks MJ, Goltz RW. Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). Am J Med Genet C Semin Med Genet. 2016;172C:44-51.
3. Lombardi MP, Bulk S, Celli J, Lampe A, Gabbett MT, Ousager LB, et al. Mutation update for the PORCN gene. Hum Mutat. 2011;32:723-8.
4. López-Porras RF, Arroyo C, Soto-Vega E. Focal dermal hypoplasia with uterus bicornis and renal ectopia: Case report and review of the literature. Case Rep Dermatol. 2011;3:158-63.
5. Grzeschik KH, Bornholdt D, Oeffner F, König A, del Carmen Boente M, Enders H, et al. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet. 2007;39:833-5.

How to Cite

1.
Alba C, Novoa M, Bohórquez I, Barrera A. Goltz syndrome. rev. asoc. colomb. dermatol. cir. dematol. [Internet]. 2019 Aug. 9 [cited 2024 Jul. 3];24(3):237-40. Available from: https://revista.asocolderma.org.co/index.php/asocolderma/article/view/1116

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Published

2019-08-09

How to Cite

1.
Alba C, Novoa M, Bohórquez I, Barrera A. Goltz syndrome. rev. asoc. colomb. dermatol. cir. dematol. [Internet]. 2019 Aug. 9 [cited 2024 Jul. 3];24(3):237-40. Available from: https://revista.asocolderma.org.co/index.php/asocolderma/article/view/1116

Issue

Vol. 24 No. 3 (2016): July – September

Section

Case Report
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