title: A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing.
abstract: 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.
authors.affiliation: Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.
authors.forename: Wu
authors.initials: W
authors.lastname: Jian-Bing
authors.affiliation: Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.
authors.forename: Li
authors.initials: L
authors.lastname: Cheng-Rang
authors.affiliation: Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.
authors.forename: Ma
authors.initials: M
authors.lastname: Yi-Ping
authors.affiliation: Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.
authors.forename: Sheng
authors.initials: S
authors.lastname: Nan
authors.affiliation: Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.
authors.forename: Li
authors.initials: L
authors.lastname: Hui
authors.affiliation: Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Lin
mesh_terms: D001768:Blister / Q000209:etiology / Q000473:pathology; D001816:Bloom Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D002648:Child; D004890:Erythema / Q000209:etiology / Q000473:pathology; D005148:Facial Dermatoses / Q000209:etiology* / Q000473:pathology; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans