Focal dermal hypoplasia: updates

Abstract

Focal dermal hypoplasia (FDH), or Goltz-Gorlin syndrome, is a rare syndrome and may result in multisystem disorders. Several reviews of FDH have been published. However, the last comprehensive review of this disorder appeared more than 20 years ago. To date, a number of new clinical manifestations have been reported and considerable knowledge has accumulated regarding etiology and pathogenetic mechanisms. The purpose of this review is to gather these more recent data and to provide organized and reliable information. So we reviewed 159 cases of FDH that had been reported from 1990 to 2012, summarized the new discoveries, and suggested a potential standard for the diagnosis of FDH. We also reported on a Chinese girl with FDH, who was clinically and histologically in accord with FDH, as an example.

Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

“…When reviewing the literature, we found more than 400 reported GS patients 11, 12. GS was long presumed to be lethal in males 13, 14.…”

Ossifying Fibroma in a Patient With Oculocerebrocutaneous (Delleman) Syndrome

“…3,10,12 FDH is a rare ectodermal and mesodermal disorder characterized by cutaneous, ocular, dental, skeletal, and soft tissue dysplasia. 12 Despite the phenotypic overlap, the differentiation between FDH and OCCS can be facilitated by several factors. First, FDH is an X-linked dominant syndrome occurring only in females, because it is lethal in males.…”

“…9 The latter can appear ' 'punched-out' ' and can resemble the skin lesions found in focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome. 12 FDH, oculoauriculovertebral syndrome (OAV), also known as Goldenhar syndrome, and ECCL, also known as Haberland syndrome, have frequently been cited as important differential diagnostic entities of OCCS. 3,10,12 FDH is a rare ectodermal and mesodermal disorder characterized by cutaneous, ocular, dental, skeletal, and soft tissue dysplasia.…”

“…First, FDH is an X-linked dominant syndrome occurring only in females, because it is lethal in males. 12 Second, the skin lesions in FDH will almost invariably be present along Blaschko's lines. 12 In contrast, in OCCS, they will not follow any particular pattern of distribution.…”

A Novel <b><i>PORCN </i></b>Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report

“…Skeletal findings include split hand/foot, oligo/syndactyly, ectrodactyly, polydactyly, and camptodactyly. Ocular anomalies seen in some cases include microphthalmia, anophthalmia, iris and chorioretinal coloboma [Wang et al, 2014]. According to the clinical diagnostic criteria of FDH proposed by Bostwick et al [2016], patients should have more than 3 characteristic skin manifestations (congenital patchy skin aplasia, congenital nodular fat herniation, telangiectasia, congenital hyper/ hypo-pigmentation in Blaschko linear distribution, and congenital ridged dysplastic nails) and at least 1 of the characteristic limb malformations [split hand/foot (ectrodactyly), oligo/syndactyly, transverse limb defects and marked long bone reduction].…”