Goltz-Gorlin Syndrome: A Case Report and Literature Review

Goltz-Gorlin syndrome, also known as focal dermal hypoplasia (FDH), is an uncommon X-linked dominant mesoectodermal dysplasia that predominantly affects females, with most nonmosaic males presumed to be nonviable. The disorder arises from abnormal development of mesodermal and ectodermal tissues and manifests as a broad spectrum of multisystem abnormalities. It is characterized by distinctive cutaneous findings and extracutaneous involvement involving the ocular, dental, skeletal, GI, genitourinary, cardiovascular, and central nervous systems. We report the case of a 49-year-old woman who presented with multiple papillomatous lesions initially involving the oral cavity and progressively spreading to other areas. Physical examination revealed innumerable millimetric verruciform papules, as well as multiple soft, yellowish, smooth oval papules over a hyperpigmented macule distributed along Blaschko lines. Additional findings included telangiectasias, patchy alopecia, dental anomalies, strabismus, and syndactyly/ectrodactyly of the left hand and right foot. Histopathological examination of verruciform and yellow papules confirmed FDH. PCR testing for human papillomavirus from oral and heel lesions was negative. The diagnosis of Goltz-Gorlin syndrome was established based on clinical criteria and histopathological findings. Multidisciplinary management included dental excision of papillomas and treatment with topical 5-fluorouracil and oral isotretinoin, resulting in complete remission. To date, approximately 200-300 cases have been reported worldwide. A retrospective institutional review identified only two additional cases between 2010 and 2025, underscoring the rarity of this condition. This case highlights the importance of early recognition of Goltz-Gorlin syndrome through characteristic cutaneous and extracutaneous findings and suggests that combined topical 5-fluorouracil and oral isotretinoin may be an effective therapeutic option for extensive papillomatous lesions.