SOLAMEN syndrome

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Classification according to ICD-10
Q85.8 Other phacomatoses, not elsewhere classified
ICD-10 online (WHO version 2019)

The SOLAMEN syndrome , acronym for S egmentaler outgrowth ( O utgrowth) - L ipomatose - A rteriovenöse M alformation - E pidermal- N aevus syndrome , is a very rare congenital malformation syndrome with the eponymous main features and is used to PTEN Hamartoma-tumor Syndrome counted.

The name was suggested in the first description from 2007 by the French dermatologist Frédéric Caux and colleagues.

Instead, the term “PTEN hamartoma tumor syndrome” has also established itself for this clinical picture.

The condition can also be viewed as a variant of Cowden's syndrome .

Spread and cause

The frequency is unknown; the inheritance is autosomal dominant . The disease are mutations in the form of a mosaic in the PTEN - gene on chromosome 10 locus q23.31 basis.

Clinical manifestations

In addition to the typical findings of Cowden syndrome, there are:

Individual evidence

  1. ↑ Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus. In: Orphanet (Rare Disease Database).
  2. ↑ PTEN hamartoma tumor syndrome. In: Orphanet (Rare Disease Database).
  3. ↑ F. Caux, H. Plauchu, F. Chibon, L. Faivre, O. Fain, P. Vabres, F. Bonnet, ZB Selma, L. Laroche, M. Gérard, M. Longy: Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. In: European journal of human genetics: EJHG. Vol. 15, No. 7, July 2007, pp. 767-773, doi: 10.1038 / sj.ejhg . 5201823 , PMID 17392703 .
  4. ^ Gene Reviews
  5. ^ A b Cowden syndrome 1.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ Proteus Syndrome