Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant

A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia

Mutations in the PORCN gene cause the X-linked dominant condition focal dermal hypoplasia (FDH). Features of FDH include striated pigmentation of the skin, ocular and skeletal malformations. FDH is generally associated with in utero lethality in non-mosaic males and most of the currently reported male patients show mosaicism due to de novo post-zygotic mutations in the PORCN gene. There is only...

A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.

BACKGROUND Focal dermal hypoplasia (also known as Goltz syndrome) is an X-linked dominant syndrome characterized by patchy hypoplastic skin with soft-tissue, skeletal, dental, and ocular defects that are secondary to mutations in the PORCN gene. To our knowledge, only 5 cases of focal dermal hypoplasia with unilateral presentation have been reported, and molecular studies were not performed in ...

Focal dermal hypoplasia in a male

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 ...

Focal Dermal Hypoplasia: A Male Case

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...

Focal dermal hypoplasia (Goltz syndrome) in a male.