Goltz-Gorlin syndrome

Classification according to ICD-10
Q82.8	Other phacomatoses, not elsewhere classified
ICD-10 online (WHO version 2019)

The focal dermal hypoplasia , also known as " Goltz-Gorlin syndrome ", is a rare genetic disease from the group of phacomatoses .

The Gorlin-Goltz syndrome or basal cell nevus syndrome must be distinguished from this, which is much more common and in which basaliomas occur more frequently .

Mark

The syndrome is inherited in a gonosomal dominant manner. The few hundred to two hundred people affected worldwide are almost all women, as male embryos mostly die.

There are streaky areas in which the skin is not completely applied, but the epidermis lies directly on the subcutaneous fatty tissue .

Van Allen-Myhre Syndrome

The so-called Van Allen-Myhre syndrome describes either a severe form of focal dermal hypoplasia or an allelic form of the disease.

Therapy options

A causal therapy is not possible.

Name of the syndrome

While the naming in the Anglo-American area is based on the US doctor Gorlin, in German-speaking countries the clinical picture is often named after the Strasbourg physiology professor Friedrich Goltz , i.e. Goltz syndrome. Another designation as “focal dermal hypoplasia” (FDH) does not even require an honorable researcher name.

research

In 2007 the localization and precise determination of the mutations in the PORCN gene could be demonstrated. These can be found on the X chromosome. at locus Xp11.23.

The practical benefit of the scientific discovery is the possibility of prenatal diagnostics now available for those who so wish. From the analysis of the genetic malfunction, conclusions can be drawn about regulatory processes that play a major role in embryonic development .

Web links

• Goltz-Gorlin syndrome.  In: Online Mendelian Inheritance in Man . (English)
• Goltz-Gorlin syndrome. In: Orphanet (Rare Disease Database).

further reading

• LL Muzio: Nevoid basal cell carcinoma syndrome (Gorlin syndrome). In: Orphanet Journal of Rare Diseases. 3, 2008, p. 32. doi: 10.1186 / 1750-1172-3-32 (review article in Open Access )

Individual evidence

1. ^ MI Van Allen, S. Myhre: New multiple congenital anomalies syndrome in a stillborn infant of consanguinous parents and a prediabetic pregnancy. In: American journal of medical genetics. Volume 38, No. 4, March 1991, pp. 523-528, doi: 10.1002 / ajmg.1320380404 , PMID 2063890 .
2. ↑ S. Hancock, P. Pryde, C. Fong, JE Brazy, K. Stewart, A. Favor, RM Pauli: Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution. In: American journal of medical genetics. Volume 110, No. 4, July 2002, pp. 370-379, doi: 10.1002 / ajmg.10456 , PMID 12116212 (review).
3. ↑ uni-marburg.de: Causality of Goltz Syndrome .
4. ↑ Karl-Heinz Grzeschik et al .: Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. In: Nature Genetics . 39, 2007, pp. 833-835. doi: 10.1038 / ng2052 .

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !