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This case report describes facial atrophic papules with telangiectasias, streaked hypopigmented and hyperpigmented papules on the left side of the trunk and extremities, and soft yellow fat herniations.

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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.

OBJECTIVE: To detect the mutation of PORCN gene in a patient with focal dermal hypoplasia and study the genotype-phenotype correlation.
METHODS: Peripheral blood samples were obtained from the family members and control subjects. PCR was carried out to amplify all the exons and adjacent splice sites of PORCN gene and mutation was detected by bidirectional sequencing.
RESULTS: A G149C mutation was found at exon 2 of the PORCN gene in the patient, which caused a change from Alanine to Proline at codon 38 (A38P). The patient presented mild clinical manifestations.
CONCLUSIONS: A new missense mutation (A38P) in the PORCN was detected in the patient, which maybe one of the molecular mechanisms in the pathogenesis of the disease. The relationship between G149C genotype and moderate phenotype might be attributed to the influence of A38P missense mutation towards the corresponding protein, which is different from previous results.