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Co‐occurrence and contribution of Fabry disease and Klippel–Trénaunay–Weber syndrome to a patient with atypical skin lesions
Author(s) -
Germain DP
Publication year - 2001
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2001.600110.x
Subject(s) - angiokeratoma , varicose veins , missense mutation , medicine , scrotum , pathology , venous malformation , klippel trenaunay syndrome , fabry disease , buttocks , dermatology , anatomy , biology , disease , mutation , surgery , genetics , gene , soft tissue
Fabry disease (FD) is an X‐linked recessive inborn error of glycosphingolipid metabolism. Among clinical symptoms, maculopapular skin lesions, known as angiokeratoma, most often appear on the lower abdomen, scrotum, and thighs, with a tendency toward bilateral symmetry. A 30‐year‐old male patient was referred to us for evaluation of a complex vascular and cutaneous malformation. Skin examination showed numerous angiokeratoma, which had developed only on the right part of the body, with a sharp delineation in the midline of the trunk. The diagnosis of FD was confirmed by demonstration of a decreased α‐galactosidase A activity, and the patient was shown to be hemizygote for a missense mutation (R342Q) in the α‐galactosidase A gene ( GLA ). This mutation was also demonstrated in DNA extracted from fibroblast cultures established from both affected and unaffected skin areas, thus excluding the hypothesis of somatic mosaicism or revertant mosaicism. Interestingly, the diagnosis of Klippel–Trénaunay–Weber syndrome (KTWS) was also made, through clinical and radiological investigations. This is the first report on the association between FD and KTWS. Karyotype analysis was normal. It is likely that the mixed vascular malformations of KTWS affecting capillary and venous systems have contributed to the unusual angiokeratoma distribution pattern observed in the patient.