Focal dermal hypoplasia is a form of

ectodermal dysplasia Ectodermal dysplasia (ED) is a group of genetic syndromes all deriving from abnormalities of the ectodermal structures.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). S ...

. It is a multisystem disorder characterized primarily by skin manifestations to the atrophic and hypoplastic areas of skin which are present at birth. These defects manifest as yellow-pink bumps on the skin and pigmentation changes. The disorder is also associated with shortness of stature and some evidence suggests that it can cause epilepsy.

Genetics

Focal dermal hypoplasia has been associated with

PORCN PORCN (porcupine homolog – Drosophila) is a human gene. The protein is homologous to other membrane-bound O-acyltransferases. Function The protein Proteins are large biomolecules and macromolecules that comprise one or more long chains ...

gene mutations on the

X chromosome The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex ...

. 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 Twist-related protein 2 is a protein that in humans is encoded by the ''TWIST2'' gene. The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor and shares similarity with another bHLH transcription factor, TWIST1. ...

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 under 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 Max Jessner (2 November 1887 – 27 August 1978) was a German dermatologist and university professor. In 1928 he travelled to Buriat-Mongolia on an expedition to study syphilis and the effects of the anti-syphilitic drug Salvarsan. After escaping ...

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.

Goltz-Gorlin

Besides its formal name, it is most commonly referred to as Goltz-Gorlin syndrome, after

Robert Goltz The name Robert is an ancient Germanic given name, from Proto-Germanic "fame" and "bright" (''Hrōþiberhtaz''). Compare Old Dutch ''Robrecht'' and Old High German ''Hrodebert'' (a compound of '' Hruod'' ( non, Hróðr) "fame, glory, honou ...

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.

References

External links

* http://www.orpha.net/consor/www/cgi-bin/OC_Exp.php?lng=EN&Expert=2092
GeneReview/NIH/UW entry on Focal dermal hypoplasia
{{X-linked disorders Genodermatoses X-linked dominant disorders Rare diseases