Focal dermal hypoplasia (FDH) is a rare mesoectodermal dysplasia syndrome characterized by cutaneous, skeletal, dental, ocular and soft-tissue defects. An X-linked dominant mode of inheritance with lethality in male subjects has been proposed. Only around 30 cases of FDH have been reported in male subjects. Live born affected males are mosaic for mutations in PORCN gene . We present the mosaic ...

A 17-year-old male presented with multiple linear distributed erythema and papules which first appeared since birth. The erythema was fragile, easily traumatized, and often healed with hypopigmented atrophic scars. The right first and second fingers and nails were hypoplastic. Generalized linear or whorled hyperpigmented patches gradually developed and multiple papillomatous papules emerged dur...

We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia), a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndrome presented with typical skin lesions along with progressive dimness of vision and mental retardation since birth. It is inherited in an X-linked dominant ...

GGS: Goltz-Gorlin syndrome INTRODUCTION Focal dermal hypoplasia, also known as GoltzGorlin syndrome (GGS) or Goltz syndrome, arises from a rare genetic abnormality in the WNT/b-catenin signaling pathway first described by Goltz et al in 1962. Molecularly, Goltz syndrome is caused by a mutation or deletion in PORCN that occurs sporadically or through X-linked dominant inheritance. We report on a...