The Drosophila porcupine gene is required for secretion of wingless and other Wnt proteins, and sporadic mutations in its unique human ortholog, PORCN, cause a pleiotropic X-linked dominant disorder, focal dermal hypoplasia (FDH, also known as Goltz syndrome). We generated a conditional allele of the X-linked mouse Porcn gene and analyzed its requirement in Wnt signaling and embryonic developme...

BACKGROUND Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome. METHOD A series of 17 patients with Goltz-Gorlin syndrome is reported on, and their phenotype and genotype are described. RESULTS In 14 pa...

BACKGROUND Focal Dermal Hypoplasia (FDH) is a genetic disorder characterized by developmental defects in skin, skeleton and ectodermal appendages. FDH is caused by dominant loss-of-function mutations in X-linked PORCN. PORCN orthologues in Drosophila and mice encode endoplasmic reticulum proteins required for secretion and function of Wnt proteins. Wnt proteins play important roles in embryo de...

A n 11-month-old girl presented with nodular lesions on the precalcaneal plantar surface of both heels. The right nodule was first detected by the 24th day of life, and the left nodule by the 4th month. They were increasing in parallel growth of her feet; there was no local pain. Her prenatal and family history was unremarkable. Physical examination revealed 2 symmetrical, skincolored, non-tend...

Vertebral artery hypoplasia is not currently considered an independent risk factor for stroke. Emerging evidence suggest that vertebral artery hypoplasia may contribute to posterior circulation ischemic events, especially when other risk factors coexist. In the present literature review, we present published data to discuss the relationship between a hypoplastic vertebral artery and posterior c...

Pasini's albopapuloid epidermolysis bullosa is a very rare subtype of generalized dystrophic dominant epidermolyis bullosa. A 30 year-old white female patient presented since her childhood disseminated small blisters and papules. Light microscopy of a blister showed dermal-epidermal cleavage; moreover, focal areas of dermal-epidermal splitting were also observed. Transmission electron microscop...

Pontocerebellar hypoplasia is a group of heterogeneous neurodevelopmental disorders characterized by reduced volume of the brainstem and cerebellum. We report two male siblings who presented with early infantile clonic seizures, and then developed infantile spasms associated with prominent isolated cerebellar hypoplasia/atrophy on magnetic resonance imaging (MRI). Using whole exome sequencing t...

congenital dermal sinus tract is an uncommon type of spinal dysraphism that results when a focal area of the ectoderm fails to separate from the underlying neuroectoderm, a process termed nondysjunction. Nondysjunction prevents the insertion and subsequent development of mesodermal tissue, which normally separates the spinal cord from the skin. Congenital dermal sinus tracts occur rarely and ar...