Patrizi A, Neri I, Guerrini V, Costa A M, Passarini B
Department of Clinical and Experimental Medicine, University of the Study of Bologna, Italy.
Dermatology. 1998;196(4):392-6. doi: 10.1159/000017930.
Steatocystoma multiplex (SM) and eruptive vellus hair cysts (EVHC) are conditions characterized by numerous cutaneous cysts with a clinical resemblance, such as age of onset, location, appearance of the lesions and mode of inheritance, but with distinctive histologic features. Recently, some authors have proposed that the two conditions are variants of one entity originating in the pilosebaceous duct, while others suggest that SM and EVHC are two distinct entities, on the basis of the different expression of keratins. Milia are small round cysts, commonly involving the face. In 1994, Menni and Piccinno reported the first association, in a family, between persistent infantile milia in a 9-month-old girl and SM in the father. The authors hypothesized a relationship between these two conditions.
We describe a family in which the mother showed cystic lesions and milia and her 4-year-old son and her 18-month-old daughter presented persistent infantile milia.
In addition to the clinical and genetic documentation, a biopsy was performed in the son and two biopsies in the mother.
The histologic examination of one of the son's milium-like papules showed in the superficial dermis a small cyst typical of a milium. In serial sections it was possible to see a connection with a vellus hair follicle by an epithelial pedicle. The histologic examination of one of the mother's papules on the forehead showed a large round cystic structure with histologic features of EVHC. Close to the cyst wall, serial sections showed flattened sebaceous gland lobules. The histologic findings of the second biopsy taken from the chest showed the typical features of a steatocystoma.
The relationship between milia, SM and EVHC is discussed; the three disease should be considered as subtypes of multiple pilosebaceous cysts that may all present overlapping histologic features. The different level of the pilosebaceous duct where the cyst originates should explain the different clinical manifestations.
多发性皮脂囊肿（SM）和发疹性毳毛囊肿（EVHC）的特征是有许多皮肤囊肿，在发病年龄、部位、皮损外观和遗传方式等临床方面相似，但组织学特征不同。最近，一些作者提出这两种情况是起源于毛囊皮脂腺导管的同一实体的变体，而另一些人则基于角蛋白的不同表达认为SM和EVHC是两个不同的实体。粟丘疹是小的圆形囊肿，常见于面部。1994年，门尼和皮奇诺报道了首例9个月大女孩的持续性婴儿粟丘疹与父亲的SM之间的家族关联。作者推测了这两种情况之间的关系。
我们描述了一个家庭，母亲有囊性皮损和粟丘疹，她4岁的儿子和18个月大的女儿有持续性婴儿粟丘疹。
除了临床和遗传学记录外，对儿子进行了一次活检，对母亲进行了两次活检。
儿子的一个粟丘疹样丘疹的组织学检查显示，在真皮浅层有一个典型的粟丘疹小囊肿。在连续切片中，可以看到通过上皮蒂与毳毛毛囊相连。母亲前额的一个丘疹的组织学检查显示有一个大的圆形囊性结构，具有EVHC的组织学特征。靠近囊肿壁，连续切片显示皮脂腺小叶扁平。取自胸部的第二次活检的组织学表现为皮脂囊肿的典型特征。
讨论了粟丘疹、SM和EVHC之间的关系；这三种疾病应被视为多发性毛囊皮脂腺囊肿的亚型，它们可能都有重叠的组织学特征。囊肿起源的毛囊皮脂腺导管的不同水平应解释不同的临床表现。
