R Hartung1, E Mengel1, J Schwarick2, A Gal3, M Beck1 1.Children's Hospital, University of Mainz, Mainz, Germany 2.Children's Hospital, Elbe‐Elster Hospital Herzberg, Germany 3.Human Genetics, University of Hamburg, Hamburg, Germany Background: Angiokeratoma are a prominent feature of Fabry disease and are seen in 80–85% of patients with Fabry disease, and their detection often leads to diagnosis. Angiokeratoma typically appear in males around 10 years of age and are located most frequently in the inguinal and periumbilical area with a bilateral symmetry. In males, the scrotum is often also affected (Paller, Neurol Clin 1987;5:441–6). Case report: We report the case of a 9‐year‐old boy, who had developed massive hyperkeratotic angiokeratoma before his second year of life. These lesions were located only on the left side of the body and on the left part of the umbilicus. There were no angiokeratoma on the upper part of the body, and very few on his right leg (Fig. 1). He had no detectable α‐galactosidase A activity measured in leukocytes and fibroblasts. In the GALA gene a duplication of exon 2 (intron 1 g.2916–intron 2 g.6359) was found. In two skin biopsies from affected and unaffected skin, there was no evidence of genetic mosaicism. Electron microscopy showed both a typical pathology, with dense and zebra‐like bodies. Additionally, we excluded vascular anomalies in the left leg of the boy using digital subtraction angiography, ultrasound and clinical examination. In the brother of the patient, who also suffers from Fabry disease, no angiokeratoma could be detected. The patient at 9 years of age. Conclusion: Angiokeratoma in patients with Fabry disease can appear very early in life. It is important to keep Fabry disease in mind when angiokeratoma are found in children, however, their frequency varies considerably between patients. This study found no correlation between angiokeratoma and the genetic mutation. There is currently no explanation for the asymmetric and early appearance of angiokeratoma in this boy.

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 007610 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 007610 | SxmlIndent | more

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:ADD9B803C775B764325D1B0DFAD290E767F15A0A
   |texte=   FABRY DISEASE: SKIN MANIFESTATIONS; CARDIAC DISEASE; CASE REPORTS
}}