Disease relevance of Focal Dermal Hypoplasia

• Encephalocraniocutaneous lipomatosis, focal dermal hypoplasia and microphthalmia with linear skin defects (MLS) syndrome are discussed as the most important differential diagnostic entities [1].
• Two female infants with Goltz syndrome (focal dermal hypoplasia) were recently investigated in the Department of Radiology, The Hospital for Sick Children, Great Ormond Street for severe feeding problems and failure to thrive [2].

High impact information on Focal Dermal Hypoplasia

• These including focal dermal hypoplasia, oral-facial-digital syndrome type I (ref. 3) and epilepsy with bilateral periventricular heterotopias [3].
• Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter [4]?
• Focal dermal hypoplasia (Goltz syndrome): a decreased accumulation of hyaluronic acid in three-dimensional culture [5].
• Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin syndrome) [6].
• Regional skin hypoplasia has been described in several genetic syndromes, including focal dermal hypoplasia (FDH), microphthalmia with linear skin defects (MLS), oculocerebrocutaneous syndrome (OCCS), and terminal osseous dysplasia and pigmentary defects (TODP) [7].

Chemical compound and disease context of Focal Dermal Hypoplasia

• CONCLUSIONS: Retinal detachments may occur as part of the focal dermal hypoplasia syndrome [8].

Gene context of Focal Dermal Hypoplasia

• Two Cape Coloured children, both with physical stigmata of Goltz syndrome, are described [9].

References