Goltz syndrome (Focal Dermal Hypoplasia) with exuberant fat herniations, syndactyly, papillomas, skin defects, eye involvement and false positive anti HIV serology

Goltz syndrome (Focal Dermal Hypoplasia) with exuberant fat herniations, syndactyly, papillomas, skin defects, eye involvement and false positive anti HIV serology

Goltz Syndrome (Focal Dermal Hypoplasia) is a rare congenital mesoectodermal dysplasia with multisystemic involvement. It was first described by Goltz in 1962 and more than 200 cases reported worldwide.3 Skin lesions are characterized by athrophic, hyperpigmented linear or reticulated macules, multiple mucocutaneous papillomas, fat herniations or fat tumors. Besides the skin, other structures frequently involved are the skeletal system, eyes, teeth, hair, nails and central nervous system.1The association between Goltz syndrome and anti-HIV serology was not found in the literature. We report 32 year-old woman with typical cutaneous leisons of Goltz Syndrome associated with false positive anti-HIV serology and secondary infertility.

___

  • Kanitakis, J., Souillet, A.L., Butnaru, C., et al. 2003. Melanocyte stimulation in Focal Dermal Hypoplasia with unusual pigmented skin lesions:A histologic and immunohistochemical study. Pediatr. Dermatol. 20, 249-253.
  • Miranda, S.B., Delmaestro, D., Bertoli, R., et al. 2005. Focal Dermal Hypoplasia with exuberant fat herniations and skeletal deformities. Pediatr. Dermatol. 22, 420-423.
  • Leite, J.C.L., Faermann, R., Stein, N.R., et al. 2005. Focal dermal hypoplasia associated with split sternum-Goltz syndrome. Clin. Dysmorphol.14,37-39.
  • Silverstein, D.M., Aviles, D.H., Vehaskari, V.M. 2004. False-positive human immunodeficiency virus antibody test in a dialysis patient. Pediatr. Nephrol. 19, 547-549.
  • Van den Veyver. I.B. 2002. Microphtalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes:are they related X-linked domninant male-lethal disorders? Cytogenet Genome Res. 99, 289-296.