Köebner Phenomenon Induced by Striae Distensae in a Vitiligo Patient

No abstract available.

A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing.

Bloom syndrome, a rare autosomal-recessive disorder, characteristically presents with photosensitivity, telangiectatic facial erythema, and growth deficiency. We present a case of Bloom syndrome with uncommon clinical manifestations including alopecia areata, eyebrow hair loss, flat nose, reticular pigmentation, and short sharpened distal phalanges with fingernails that were wider than they were long. We detected the Bloom syndrome gene, BLM, which is one of the members of the RecQ family of DNA helicases, and found changes in 2 heterozygous nucleotide sites in the patient as well as her father and mother.

Alpha-galactosidase A gene mutation in a Chinese family with Fabry disease mimicking clinical features of hypertrophic cardiomyopathy / 中华心血管病杂志

<p><b>OBJECTIVE</b>To screen gene mutation in alpha-galactosidase A (alpha-Gal A) in a nonconsanguineous Chinese family with Fabry disease (FD) with clinical manifestations similar to hypertrophic cardiomyopathy (HCM).</p><p><b>METHODS</b>Mutation analysis was performed by using purified PCR products to direct sequence analysis on an ABI-377XL automated DNA sequencer. DNA analysis of alpha-Gal A gene and physical and clinical examinations were performed in a female proband and in her relatives (15 subjects in total).</p><p><b>RESULTS</b>Three hemizygotes and 6 heterozygotes were diagnosed for FD by the alpha-Gal A gene analysis with a missense mutation in exon 5 of the alpha-Gal A sequence, leading to a TGG32TGA substitution, which may induce the absent of tryptophan's translation (corresponded to TGG) by the terminator codon TGA. Six patients in the family were revealed as HCM by echocardiography.</p><p><b>CONCLUSIONS</b>Present results show that it is important to differentiate FD from other causes of hypertrophy in patients with cardiac hypertrophy. Screening for alpha-Gal A gene mutations in patients with FD and in their relatives could help to identify all suspected cases within the families.</p>