Schirren H, Schirren C G, Stolz W, Kind P, Plewig G
Dermatologische Klinik und Poliklinik, Universität München, Deutschland.
Dermatology. 1994;189(4):368-72. doi: 10.1159/000246881.
Buschke-Ollendorff syndrome is an autosomal dominant disorder clinically characterized by the appearance of disseminated white papules and osteopoikilosis. Histologically most cases show normal collagen and increased elastic tissue. Abortive forms of Buschke-Ollendorff syndrome are described, which show characteristic skin involvement, absence of skeletal changes and decreased elastic tissue. Papular elastorrhexis is characterized by nonfollicular, white papules, decreased elastic tissue, no genetic inheritance and no osteopoikilosis.
Is papular elastorrhexis a new entity or an abortive form of Buschke-Ollendorff syndrome?
We examined three members of one family (brother, sister and mother) presenting with nonfollicular, distributed, white papules on the trunk and extremities. Skin biopsies were examined by histological and electron-microscopic methods.
The histological and electron-microscopic examinations of skin biopsies showed decreased, fragmented elastic fibers and normal collagen. By X-ray examination, no osteopoikilosis was found. The family presented here supports a genetic background of the disease.
The clinical appearance with the absence of osteopoikilosis and the histological findings of our cases suggest the diagnosis of papular elastorrhexis. Papular elastorrhexis however was reported to be nonfamilial. Because of the genetic background found here we believe that papular elastorrhexis is an abortive form of Buschke-Ollendorff syndrome. Summarizing our data and reviewing the literature, we suggest that connective tissue nevi with the most prominent alterations in the elastic tissue should be classified under the term elastic tissue nevi.
Buschke-Ollendorff综合征是一种常染色体显性疾病，临床特征为出现播散性白色丘疹和骨斑点症。组织学上，大多数病例显示胶原正常而弹性组织增加。文献描述了Buschke-Ollendorff综合征的顿挫型，其表现为特征性的皮肤受累、无骨骼改变以及弹性组织减少。丘疹性弹性纤维离解的特征为非毛囊性白色丘疹、弹性组织减少、无遗传倾向且无骨斑点症。
丘疹性弹性纤维离解是一种新的疾病实体还是Buschke-Ollendorff综合征的顿挫型？
我们检查了一个家族的三名成员（兄弟、姐妹和母亲），他们躯干和四肢出现非毛囊性、散在分布的白色丘疹。对皮肤活检标本进行了组织学和电子显微镜检查。
皮肤活检标本的组织学和电子显微镜检查显示弹性纤维减少、断裂，胶原正常。X线检查未发现骨斑点症。本文报道的这个家族支持该病的遗传背景。
我们病例中无骨斑点症的临床表现及组织学 findings提示丘疹性弹性纤维离解的诊断。然而，据报道丘疹性弹性纤维离解为非家族性。由于此处发现的遗传背景，我们认为丘疹性弹性纤维离解是Buschke-Ollendorff综合征的顿挫型。总结我们的数据并复习文献，我们建议弹性组织改变最显著的结缔组织痣应归类为弹性组织痣。
