Focal dermal hypoplasia is a form of ectodermal dysplasia.
Signs and symptoms
Genetics
Focal dermal hypoplasia has been associated with
PORCN gene mutations on the
X chromosome.
90% of the individuals who are affected with the syndrome are female: the commonly accepted, though unconfirmed, explanation for this is that the non-mosaic hemizygous males are not viable.
The differential diagnosis of focal dermal hypoplasia (Goltz) syndrome includes autosomal recessive Setleis syndrome due to TWIST2 gene mutations. It associated with morning glory anomaly, polymicrogyria, incontinentia pigmenti, oculocerebrocutaneous syndrome, Rothmund-Thomson syndrome and microphthalmia with linear skin defects (also known as MLS) syndrome because they are all caused by deletions or point mutations in the HCCS gene.
Diagnosis
Goltz syndrome is a very rare diagnosis. To date, there are fewer than 25 cases of Goltz syndrome in the United States.
Treatment
Management is targeted toward the various soft tissue and skeletal anomalies, with the goal of achieving optimal functional and cosmetic results.
Eponyms
Jessner–Cole syndrome
The disorder was first formally recognized by dermatologists
Max Jessner and Harold Newton Cole in the early 20th century. Jessner and Cole's papers were referenced more than any others in the first half of the 20th century.
[Jessner: Naeviforme poikilodermieartige Hautveränderungen mit Missbildungen. Zentralblatt für Haut- und Geschlechtskrankheiten, 1928, 27: 468.][H. N. Cole, et al: Ectodermal and mesodermal dysplasia with osseous involvement. Archiv für Dermatologie und Syphilis, Berlin, 1941, 44: 773-788.]
Goltz–Gorlin
Besides its formal name, it is most commonly referred to as Goltz–Gorlin syndrome, after
Robert Goltz and
Robert Gorlin.
Goltz and Gorlin worked together at the University of Minnesota
[R. W. Goltz, W. C. Peterson, R. J. Gorlin, H. G. Ravits: Focal dermal hypoplasia. Archives of Dermatology, Chicago, 1962, 86: 708-717.] and are credited for describing the symptoms of the disorder in more detail than ever before and tracking its genetic trends. The name became popular during the second half of the 20th century.
See also
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List of cutaneous conditions
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List of radiographic findings associated with cutaneous conditions
External links
