Goltz syndrome
Keywords:
Focal dermal hypoplasia, X chromosome, syndactyly.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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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.
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