Goltz–Gorlin syndrome (GGS) (focal dermal hypoplasia) is a very rare developmental disorder affecting ectodermal and mesodermal structures. The syndrome is inherited in an X-linked manner, with the majority of affected individuals being female. We report the case of a 51-year-old man presenting with congenital skin lesions, syndactyly, facial and thoracic asymmetry, inguinal and laryngeal papillomas, cryptorchidism, polythelia, and dental anomalies. Molecular genetic analysis confirmed the clinically suspected diagnosis of GGS by detecting a known pathogenic mutation in the PORCN gene, c.502G>A [p.(Gly168Arg)] in the mosaic state. Histopathological examinations of skin biopsies of affected individuals typically show focal dermal hypoplasia and fat herniation; despite numerous skin biopsies, these characteristics were not found in the patient involved. Instead, we observed a notable reduction and fragmentation of the elastic fibers in the upper dermis. A systematic literature review regarding the histopathological presence or absence of dermal hypoplasia and/or information on elastic fibers revealed 240 histopathological descriptions of 173 individuals. Absence of dermal hypoplasia was found in 21 biopsies (8.8%). Information on elastic fibers was given in 47 cases (19.6%), showing decrease/absence in 31 cases and fragmentation of elastic fibers in 11 cases. Therefore, the histopathological absence of dermal hypoplasia does not exclude the diagnosis of the GGS. Decrease and fragmentation of elastic fibers may represent new histopathological clues to the diagnosis of this rare syndrome. At the same time, GGS should be included in the histopathological differential diagnoses of elastolytic disorders.

This study found 1000 UA/day to be the optimal effective and safe dose.

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