Literature DB >> 12609776

Melorheostosis with ipsilateral nevus sebaceus (didymosis melorheosebacea).

Sigrid Tinschert1, Anette Stein, Burkhard Göldner, Manfred Dietel, Rudolf Happle.   

Abstract

We report an unusual case of unilateral melorheostosis and ipsilateral extensive sebaceous nevus. Because the two conditions affected the same side of the body, we hypothesize that they originated from a common genetic mechanism. The temporal and spatial co-occurrence may represent a further example of non-allelic didymosis (twin spotting). The embryo would carry two different recessive mutations at one gene locus or at linked loci on either of a pair of homologous chromosomes. Postzygotic recombination occurring during early embryonic development would result in two different populations of cells homozygous for either mutation. If this concept holds true, the present case may be described as " didymosis melorheosebacea ".

Entities:  

Mesh:

Year:  2003        PMID: 12609776

Source DB:  PubMed          Journal:  Eur J Dermatol        ISSN: 1167-1122            Impact factor:   3.328


  2 in total

1.  Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.

Authors:  Michael P Whyte; Malachi Griffith; Lee Trani; Steven Mumm; Gary S Gottesman; William H McAlister; Kilannin Krysiak; Robert Lesurf; Zachary L Skidmore; Katie M Campbell; Ilana S Rosman; Susan Bayliss; Vinieth N Bijanki; Angela Nenninger; Brian A Van Tine; Obi L Griffith; Elaine R Mardis
Journal:  Bone       Date:  2017-04-21       Impact factor: 4.398

2.  Melorheostosis with renal arterio-venous malformation: A case report with review of literature.

Authors:  Abdul Rashid Lone; Mushtaq Ahmad; Sheikh Aejaz Aziz; Gul Mohammad Bhat; Javid Rasool Bhat; Rifat Jahan; Shoukat H Khan
Journal:  Indian J Med Paediatr Oncol       Date:  2009-01
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.