Cohen L E, Tanner D J, Schaefer H G, Levis W R
J Am Acad Dermatol. 1984 Mar;10(3):431-8. doi: 10.1016/s0190-9622(84)80089-4.
This series describes some common and uncommon cutaneous findings in twelve patients with ataxia-telangiectasia (A-T). All patients had the characteristic telangiectasia as described previously. However, the telangiectases did not conform to a classic photodistribution . Our series did include one patient with a pathologic reaction to light-simulating hydroa aestivale or vacciniforme . In addition, there were three patients with acanthosis nigricans in two unrelated families. Vitiligo, impetigo, recurrent herpetic gingivostomatitis, hirsutism, lipoatrophy, gray hair, progeroid changes and hyper- and hypopigmented macules were noted in our patients. Many of our patients had one or more caf'e au lait like-lesions in a dermatomal distribution. In addition, several of the family members showed one or more café au lait-like lesions, suggesting the possibility that this finding may represent a phenotypic expression in the skin of carriers of this cancer-prone syndrome.
本系列描述了12例共济失调毛细血管扩张症(A-T)患者中一些常见和不常见的皮肤表现。所有患者都有先前描述的特征性毛细血管扩张。然而,这些毛细血管扩张并不符合典型的光分布。我们的系列中确实包括1例对模拟光照性夏季水疱病或痘疮样水疱病有病理反应的患者。此外,在两个不相关的家族中有3例患有黑棘皮病的患者。我们的患者中还发现了白癜风、脓疱病、复发性疱疹性龈口炎、多毛症、脂肪萎缩、白发、早老样改变以及色素沉着过多和过少的斑疹。我们的许多患者有一个或多个呈皮节分布的咖啡斑样损害。此外,一些家庭成员也有一个或多个咖啡斑样损害,这表明这一表现可能代表这种易患癌症综合征携带者皮肤中的一种表型表达。