Focal dermal hypoplasia in a male

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.

Focal dermal hypoplasia.

Attention was drawn by Goltz, Peterson, Gorlin, and Ravits (1962) to a rare syndrome of multiple congenital defects affecting tissues of both mesodermal and ectodermal origin. The universal feature of their three initial cases was the skin abnormality, which consisted of areas of extremely thin or absent dermis, frequently with localized herniations of subcutaneous fat into the epidermis appear...

Blaschko Linear Enamel Defects – A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia

Focal dermal hypoplasia (FDH) is a rare genetic skin disorder. The inheritance of FDH or Goltz-Gorlin syndrome is X-linked dominant and the disease is associated with a PORCN gene mutation. This gene plays a key role in the Wnt pathway, which has an impact on embryonic development. Every tissue derived from meso- and ectoderm can be affected. Patients suffer from cutaneous, ocular, osseous, ora...