Blaschko line acne on pre-existent hypomelanosis reflecting a mosaic FGFR2 mutation

British Journal of Dermatology

Volumn 172, Issue 4, 2015, Pages 1125-1127

  Kiritsi, D ^a   Lorente, A I ^b   Happle, R ^a   Bernabeu Wittel, J ^b   Has, C ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2; ISOTRETINOIN; FGFR2 PROTEIN, HUMAN;

ACNE; ACROCEPHALOSYNDACTYLY; ARM; BLASCHKO LINE ACNE; CASE REPORT; CHILD; DNA ISOLATION; FACE; FAMILY HISTORY; FOLLOW UP; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; HYPOPIGMENTATION; LASER MICROSCOPY; LETTER; MALE; MENTAL DEFICIENCY; MOSAICISM; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REMISSION; SCHOOL CHILD; SKIN BIOPSY; TRUNK; ACNE VULGARIS; GENETICS; PATHOLOGY;

ACNE VULGARIS; CHILD; HUMANS; HYPOPIGMENTATION; MALE; MOSAICISM; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2;

EID: 84926150193     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.13491     Document Type: Letter

References (12)

1. Kurokawa I, Danby FW, Ju Q, et al,. New developments in our understanding of acne pathogenesis and treatment. Exp Dermatol 2009; 18: 821-32.
2. Torchia D, Schachner LA, Izakovic J,. Segmental acne versus mosaic conditions with acne lesions. Dermatology 2012; 224: 10-14.
3. Happle R,. Mosaicism in Human Skin. Berlin: Springer-Verlag, 2014.
4. Munro CS, Wilkie AO,. Epidermal mosaicism producing localised acne: somatic mutation in FGFR2. Lancet 1998; 352: 704-5.
5. Melnik BC, Vakilzadeh F, Aslanidis C, et al,. Unilateral segmental acneiform naevus: a model disorder towards understanding fibroblast growth factor receptor 2 function in acne? Br J Dermatol 2008; 158: 1397-9.
6. Wilkie AO, Slaney SF, Oldridge M, et al,. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995; 9: 165-72.
7. Kiritsi D, Garcia M, Brander R, et al,. Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa. J Invest Dermatol 2014; 134: 2097-104.
8. Katoh M,. Cancer genomics and genetics of FGFR2 (Review). Int J Oncol 2008; 33: 233-7.
9. Melnik BC, Schmitz G, Zouboulis CC,. Anti-acne agents attenuate FGFR2 signal transduction in acne. J Invest Dermatol 2009; 129: 1868-77.
10. Belleudi F, Purpura V, Scrofani C, et al,. Expression and signaling of the tyrosine kinase FGFR2b/KGFR regulates phagocytosis and melanosome uptake in human keratinocytes. FASEB J 2011; 25: 170-81.
11. Morice-Picard F, Kostrzewa E, Wolf C, et al,. Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation. Arch Dermatol 2011; 147: 1073-6.
12. Has C,. Mosaicism in the skin: the importance of mild or minimal skin lesions. Arch Dermatol 2011; 147: 1094-6.