Milia: A review and classification
英文原文
Milia are frequently encountered as a primary or secondary patient concern in pediatric and adult clinics, and in general or surgical dermatology practice. Nevertheless, there are few studies on the origin of milia and, to our knowledge, there is no previous comprehensive review of the subject. We review the various forms of milia, highlighting rare variants including genodermatosis-associated milia, and present an updated classification.
对应中文
在儿科和成人诊所以及一般学科或外科皮肤病学实践中，经常遇到的主要或次要病人问题是粟丘疹。然而，关于粟丘疹起源的研究很少，据我们所知，以前也没有关于这个问题的全面回顾。我们回顾了各种形式的粟丘疹，强调了罕见的变异，包括基因皮肤病相关的粟丘疹，并提出了一个最新的分类。
英文原文
Milia (singular: milium) are small (generally≤3mm) white, benign, superficial keratinous cysts. Histologically, they resemble miniature infundibular cysts, containing walls of stratified squamous epithelium several layers thick with a granular cell layer. Although benign primary milia are commonly encountered in clinical practice, milia also occur in a variety of other conditions, many of which are rare. They may arise either spontaneously (primary milia) or secondary to various processes (secondary milia), as few or many lesions, and isolated or associated with other clinical findings. Hubler et al proposed dividing milia into primary, secondary, and ‘‘other’’ types, a classification that Wolfe and Gurevitch modified. Here, we present an updated classification and review.
对应中文
粟丘疹(单发：粟粒疹)个小，(一般≤3mm )白色，良性，浅层角质囊肿。组织学上，它们类似于微小漏斗型囊肿，包含由颗粒细胞组成的复层鳞状上皮壁。虽然在临床上良性原发性粟丘疹较常见，但粟丘疹也发生在多种其他条件下，其中许多罕见。它们可能是天生的(原发性粟丘疹)，也可能继发于各种疾病过程(继发性粟丘疹)，如很少或许多病灶，并独自分离或与其他临床发现相关联。Hubler等人提出将粟丘疹分为初级、次级和“其他”类型，Wolfe和Gurevitch对此进行了修改。在这里，我们提出了一个更新的分类和审查。
ORIGIN
起源
英文原文
Few studies have investigated the origin of milia. In general, primary milia are thought to originate from the sebaceous collar of vellus hairs (lower infundib- ulum), whereas secondary milia are believed to derive from eccrine ducts more commonly than from over- lying epidermis, hair follicles, or sebaceous ducts.
对应中文
很少有研究调查粟丘疹的起源。一般认为，原发性粟丘疹起源于毳毛的皮脂腺囊肿(下漏斗部)，而继发性粟丘疹则更多地起源于小汗腺管，而非表皮层、毛囊或皮脂腺管。
英文原文
Epstein and Kligman performed serial sectioning of 4 types of milia: primary milia and secondary milia caused by epidermolysis bullosa (EB), dermabrasion, and experimental autotransplantations of epidermis. They challenged the previously held notion that milia represent plugged hair follicles that then become retention cysts. With primary milia, they observed strandlike connections from milial cysts to the external root sheath of vellus hair follicles, near where the sebaceous ducts attach. With EB, milia were seen in connection with eccrine ducts. Postdermabrasion milia were thought to arise from amputated sebaceous lobules that seemed to initially dedifferentiate, then either redifferentiate into sebaceous glands, which could reconnect to hair follicles, or differentiate into milia. With experimental autotransplantations, milia connected to the external root sheath (near the arrector pili muscle insertion) or to the overlying epidermis.
对应中文
Epstein和Kligman对4种类型的粟丘疹进行了连续切片：由表皮溶解水疱症(EB)、磨皮和实验性自体表皮移植引起的原发性粟丘疹和继发性粟丘疹。他们挑战了先前的观点，即粟丘疹代表被堵塞的毛囊，然后成为囊肿。对于原发性粟粒病，他们观察到粟粒囊肿与皮脂腺导管连接处附近的绒毛毛囊外根鞘之间的股状连接。在EB中，明显可见与小汗腺管相连的粟丘疹。磨皮后粟丘疹被认为是由于切除的皮脂腺小叶开始脱分化，然后再分化为皮脂腺，皮脂腺可以重新连接毛囊，或分化为粟丘疹。在实验自体移植中，粟丘疹连接到外根鞘(靠近立毛肌插入点)或表皮层。
英文原文
Tsuji et al performed serial sectioning of 69 biopsy specimens of secondary milia from 8 patients with blistering disorders (EB, dermatitis herpetiformis, bullous pemphigoid, herpes zoster, and second-degree burns). In 75% of specimens, milia connected to eccrine ducts, usually at the base of the milium with a 1:1 eccrine duct:milium ratio. In only 1/69 specimens, the milia connected with hair follicles. In the remaining (23%) specimens, serial sections did not demonstrate a connection to either eccrine ducts or hair follicles. Tsuji et al also described incomplete (open) and complete (closed) forms of secondary milia.
对应中文
Tsuji等人也描述了不完全(开放)和完全(封闭)形式的继发性粟丘疹，Tsuji等人对8例水疱性疾病患者(EB、疱疹样皮炎、大疱性类天疱疮、带状疱疹和二度烧伤)69个的继发性粟丘疹活检标本进行了连续切片。75%的标本中，粟丘疹与小汗腺管相连，通常位于粟丘疹底部，小汗腺管与粟丘疹的比例为1:1。只有1/69标本中粟丘疹与毛囊相连。在其余(23%)标本中，连续切片未显示与小汗腺导管或毛囊的连接。Tsuji等人也描述了不完全(开放)和完全(封闭)形式的继发性粟丘疹。
英文原文
Honda et al examined the structure of secondary milia from 9 biopsy specimens using serial sectioning, 3-dimensional reconstruction, and immunohistochemical staining for cancer antigen-50, carcinoembryonic antigen, and cytokeratin (CK)-19. Staining patterns suggested that complete secondary milia were entirely of eccrine origin (based on the diffuse staining of cyst walls with eccrine markers), whereas incomplete secondary milia were derived from a combination of eccrine tissue and overlying or surrounding epidermis (based on their finding that the apical portions of these incomplete milia did not stain for eccrine markers). They observed that mature eccrine ducts entered at the base of the milia and took an elongated circular course within the milial wall. They hypothesized that this circular path of the eccrine ducts ‘‘parallels the growth of milia’’ and suggests an acrosyringeal origin for secondary milia.
对应中文
Honda等人通过连续切片、三维重建和免疫组化染色检测了9个活检标本的继发性粟丘疹结构，分别检测癌胚抗原50、癌胚抗原和细胞角蛋白(CK)-19。染色模式表明，完全继发性粟丘疹完全来自小汗腺(基于囊壁弥漫性小汗腺标记物染色)，而不完全继发性粟丘疹是由小汗腺组织和覆盖在上面或周围的表皮组合而成的(基于他们的发现，这些不完全粟丘疹的顶端部分没有被小汗腺标记物染色)。他们观察到，成熟的小汗腺管从粟丘疹底部进入，并在粟丘疹壁内呈拉长的环形路线。他们假设，这种小汗腺管环形路径“与粟丘疹的生长平行”，并暗示了继发性粟丘疹的起源。
英文原文
Broekaert et al sought to elucidate the differentiation state of various epithelial cysts and tumors, including primary milia (10 cases), using immunohistochemical staining for CKs. Milia and larger epidermoid cysts stained nearly identically, with basal layer CK14 reactivity; suprabasal CK1, CK10, and CK16 reactivity; CK5 reactivity in all layers of the wall; and variable CK4 reactivity of the cyst contents. This staining pattern closely resembled that of nor- mal overlying epidermis with the exception of CK16 reactivity, a hyperproliferative marker.
对应中文
Broekaert等人试图利用CKs的免疫组化染色来阐明各种表皮样囊肿和肿瘤的分化状态，包括原发性粟丘疹（10例）。粟丘疹和较多表皮样囊肿的染色几乎相同，基底层的CK14反应；基底层以上的CK1、CK10和CK16反应；所有层壁的CK5反应；以及囊肿内容物的多变CK4反应。除了CK16反应（一种过度增殖的标记物）外，这种染色模式与正常的表皮层非常相似。
英文原文
An ideal classification of milia might be based on the origin (sebaceous collar vs eccrine) and staining patterns of milia. Unfortunately, these characteristics are rarely investigated or reported.
对应中文
理想的粟丘疹分类可能基于粟丘疹的来源（皮脂腺对抗小汗腺）和染色模式。不幸的是，这些特征很少被调查或报道。
PRIMARY MILIA
原发性粟丘疹
Congenital milia
先天性粟丘疹
英文原文
Congenital milia occur in 40% to 50% of newborns, favoring the face (especially the nose), scalp, upper aspect of trunk, and upper extremities, without significant racial or sex difference. Congenital milia present with a few or numerous lesions and tend to resolve spontaneously within weeks to several months. Milia may be less common and of delayed onset in premature newborns.The main differential diagnosis is sebaceous hyperplasia, which appears as follicular grouped pinpoint whitish yellow papules around the nose and upper lip. Like congenital milia, sebaceous hyperplasia is less common in premature newborns. Although rarely required, incision and evacuation of the typical round keratinous contents of milia can confirm the diagnosis.
对应中文
先天性粟丘疹在新生儿中的发病率为40%-50%，多见于面部(尤其是鼻子)、头皮、躯干上部和上肢，没有明显的种族或性别差异。先天性粟丘疹表现出少量或大量的病变，往往在几周到数月之间自行痊愈。粟丘疹在早产儿中可能不太常见，且发病时间延迟。主要的鉴别诊断是皮脂腺增生，表现为在鼻周围和上唇周围出现滤泡状、点状、黄色发白的丘疹。和先天性粟丘疹一样，在早产儿中皮脂腺增生并不常见。虽然没有明显需要，但是切开和清除典型圆形角蛋白的粟粒疹可以确诊。
Congenital oral inclusion cysts
先天性口腔囊肿
英文原文
There are several types of congenital oral inclusion cysts, which are the oral counterparts of congenital milia. Various terms for these cysts, used somewhat inconsistently, include ‘‘Epstein pearls,’’ ‘‘Bohn nodules,’’ and ‘‘gingival (dental lamina) cysts.’’Oral inclusion cysts in the newborn present as less than or equal to 3-mm asymptomatic firm, white or translucent papules. Epstein pearls are very common (50%-85% of neonates) keratinous cysts located near the midpalatine raphe and believed to represent epithelium entrapped during palatal fusion. Bohn nodules are keratinous cysts on the alveolar ridges and palate, especially at the hard-soft palate junction, and may represent salivary gland epithelial remnants. Gingival cysts are alveolar keratinous cysts probably derived from the dental lamina, the tooth bud ectoderm. Like congenital milia, oral inclusion cysts resolve within weeks to months and may be more common in full-term neonates.Oral inclusion cysts may also be associated with increased birth weight. Neonates with congenital milia may be slightly more likely to have oral inclusion cysts.
对应中文
先天性口腔囊肿有几种类型，这是先天性粟丘疹在口腔上的表现。对于这些囊肿，不同的术语用起来不一致，包括“艾泊斯坦氏小珠”、“珍珠瘤”和“牙龈(牙板)囊肿”。新生儿的口腔囊肿表现为≤3mm的无症状的硬白色或半透明的丘疹。艾泊斯坦氏小珠是非常常见的（50%-85%的新生儿）角质性囊肿，位于腭中缝附近，被认为是腭部融合过程中残留的上皮细胞。珍珠瘤是牙槽脊和腭部的角质性囊肿，特别是在硬软腭交界处，可能代表唾液腺上皮细胞的残留。牙龈囊肿是牙槽角质性囊肿，可能来自于牙板，即牙芽外胚层。口腔包涵囊肿与先天性粟丘疹一样，在数周至数月内消退，在足月新生儿中可能更常见。口腔包涵囊肿也可能与出生体重增加有关。患有先天性粟丘疹的新生儿患口腔包涵囊肿的可能性略大。
Benign primary milia of children and adults
儿童和成人良性原发性粟粒瘤
英文原文
Benign primary milia of children and adults are frequently encountered in clinical practice. Treatment of these lesions is a relatively common reason for dermatology visits, either as a primary or secondary patient concern. Like congenital milia, benign primary milia of children and adults occur spontaneously. Unlike congenital primary milia, they favor the cheeks and eyelids, along with the forehead and genitalia. Benign primary milia of children and adults tend to be more persistent than congenital lesions.
对应中文
良性原发性粟粒瘤是临床上常见的一种疾病。无论患者主要或次要关注，一个相对常见的皮肤科就诊的原因是这些病变的治疗。与先天性粟丘疹一样，成人和儿童的良性原发性粟粒瘤也是自发发生的。与先天性原发性粟丘疹不同的是，它偏爱脸颊和眼睑，以及前额和生殖器。儿童和成人的良性原发性粟粒瘤往往比先天性粟丘疹持久时间长。
英文原文
Although benign primary milia of children and adults usually occur on the cheeks and eyelids, there are several reports of benign primary milia in unusual locations, including the nasal crease, vulva,and areola.Of particular interest are nasal crease milia. A prominent nasal crease believed to be caused by nose rubbing is well recognized in patients who are atopic.Nonatopic pedigrees demonstrating a prominent nasal groove have also been described.Some patients are born with a row of milia within the nasal crease, suggesting this may be a form of primary milia.The nasal grooves of patients who are not atopic may also develop milia.Some authors have proposed that rubbing causes epidermal invagination, suggesting that nasal crease milia sometimes represent secondary milia.
对应中文
虽然儿童和成人的良性原发性粟粒瘤通常发生在脸颊和眼睑上，但也有几例良性原发性粟粒瘤发生在不常见的部位，包括鼻褶皱、外阴和乳晕。特别有趣的是鼻褶皱。在特应性患者中，明显的鼻褶皱被认为是由鼻子摩擦引起的。还描述了表现出明显鼻部褶皱的非特应性谱系。一些患者出生时在鼻褶皱处有一排粟粒疹，提示这可能是原发性粟丘疹的一种形式。非特应性鼻炎患者的鼻沟也可能发展为粟丘疹。一些作者提出，摩擦引起表皮内陷，提示鼻部粟粒疹褶皱有时代表继发性粟丘疹。
英文原文
A subset of preadolescent patients develop ‘‘pseudoacne of the nasal crease,’’ characterized by persistent, acneiform papules within nasal crease milia, in the absence of acne elsewhere. In two patients with pseudoacne of the nasal crease, histopathologic findings included keratin-containing granulomas with mononuclear and foreign body giant cells, suggesting these lesions represent ‘‘an evolution from milia into an inflamed epidermal inclusion cyst,’’ possibly through cyst rupture.
对应中文
一组青春期前的患者表现为“鼻皱襞假性囊肿”，其特征是在其他地方没有的情况下，鼻皱襞内持续出现痤疮样丘疹。在两例鼻皱襞假性囊肿患者中，组织病理学表现为含角蛋白的肉芽肿，伴有单核细胞和巨噬细胞，提示这些病变可能通过囊肿破裂“从粟粒肿演变为炎症性表皮囊肿”。
Milia en plaque
斑块型粟丘疹
英文原文
Milia en plaque (MEP) is a rare disorder (＜30 reported cases) characterized by erythematous plaques containing numerous milia.Lesions are usually several centimeters in diameter and located on the head and neck, especially periauricularly; they may also be periorbital,on the nasal bridge, or truncal. Although MEP has been reported in different age groups, it seems to be more common in middle-aged adults with a female predominance. MEP is asymptomatic. Lesions may be indurated, and can be unilateral or bilateral. MEP is associated with pseudoxanthoma elasticum, discoid lupus erythematosus, lichen planus, trauma, and renal transplantation but also arises in healthy persons. Dogra et al suggested that cyclosporine may predispose patients to MEP based on two cases,and its known association with comedones, acne, and cysts. Histologically, MEP demonstrates a lymphocytic infiltrate and keratinous cysts.Simple extraction,retinoids,minocycline,cryotherapy,electrodessication,dermabrasion,carbon-dioxide laser,photodynamic therapy,and excision may be beneficial therapeutic options. MEP occasionally regresses spontaneously. The differential diagnosis depends on lesion location and may include nevus comedonicus, xanthelasma, Favre-Racouchot syndrome, follicular mucinosis, trichoadenoma, or lichen planus tumidus folliculans.
对应中文
斑块型粟丘疹（MEP）是一种罕见的疾病（＜30例报告），其特点是斑块中含有大量粟粒疹。病变通常直径数厘米，位于头颈部，尤其是耳周；也可能在眶周、鼻梁或躯干上。尽管在不同年龄段MEP都有报道，但它似乎在中年人中更常见，而且以女性居多。MEP是无症状的。病变可能是硬化的，可以是单侧或双侧。MEP与弹力纤维性假黄瘤、盘状红斑狼疮、扁平苔藓、外伤和肾移植有关，但也发生在健康人身上。Dogra等人基于两个病例及其与粉刺、痤疮和囊肿的关系，认为环孢菌素可能容易使患者患MEP。组织学上，MEP表现为淋巴细胞浸润性病变和角化性囊肿。简单提取、维甲酸、米诺环素、冷冻疗法、电切除、磨皮、二氧化碳激光、光动力疗法和切除可能是有益的治疗选择。MEP偶尔会自行消退。鉴别诊断取决于病变位置，可能包括黑头粉刺痣、睑黄瘤、Favre-Racouchot综合症、毛囊性黏蛋白病、毛发腺瘤或滤泡性扁平苔藓。
Nodular grouped milia
结节性粟丘疹
英文原文
Zuehlke and Ceilley described a healthy 18-month-old girl who presented with a 3-month history of an enlarging nodule on the right ankle. She had a ‘‘9×7 mm nodule studded with small white spherules’’ that histologically demonstrated numerous keratinous cysts lined by squamous epithelium consistent with a nodule of grouped milia. There was no recurrence 4 months after shave excision. The authors likened this lesion to a milial version of proliferating epidermoid cyst, but smaller and without calcification, necrosis, or dyskeratosis.
对应中文
Zuehlke和Ceilley讲述了一个18个月大的健康女孩，她有3个月右脚踝结节肿大的病史。她有一个“9×7mm结节，充满了白色小球体”，组织学上显示有许多表皮样囊肿，内有鳞状上皮层，与团状粟粒疹结节一致。手术后4个月无复发。作者将这种病变比作粟丘疹增生性表皮样囊肿，但较小且无钙化、坏死或角化不良。
Multiple eruptive milia
多发性发疹性粟丘疹
英文原文
The diagnosis of multiple eruptive milia (MEM) has been applied to lesions that occur spontaneously in too large a number to be classified as simple benign primary milia of children and adults. A few cases have been reported in patients aged 15 to 71 years, favoring the head, upper aspect of the trunk, and/or proximal upper extremities and ‘‘erupting’’ over weeks to months. Response to topical tretinoin has been documented.Langley et al classified MEM into 3 forms: spontaneous (isolated idiopathic), familial (autosomal dominant), and genodermatosis associated. We prefer to define MEM as cases without associated anomalies and, therefore, consider genodermatosis-associated MEM separately. Ratnavel et al described an unusual variant of MEM restricted to the eyelids in a family over 3 generations.
对应中文
多发性发疹性粟丘疹(MEM)的诊断已被应用于自发性发生的病变，其数量太大而不能归类为儿童和成人单纯良性原发性粟丘疹。据报道，15-71岁的患者中有少数病例发生在头部、躯干上部和/或上肢近端，并在数周至数月时间内“爆发”。有文献记载其对局部应用维甲酸的反应。Langley等人将MEM分为3种形式:自发性(孤立特发性)、家族性(常染色体显性遗传)和遗传性皮肤病相关。我们倾向于将MEM定义为无相关异常的病例，因此，将遗传性皮肤病相关的MEM单独考虑。Ratnavel等人讲述了一种罕见的MEM变异，在一个家庭超过3代病变局限于眼睑。
Generalized milia with nevus depigmentosus
泛发性粟丘疹性脱色素痣
英文原文
Taniguchi et al reported a healthy 3-month-old boy who presented with a 2-month history of widespread depigmented macules and patches with numerous tiny white papules restricted to the depigmented areas. Histologically, they identified a small epidermal cyst in the papillary dermis and basal layer hypopigmentation with decreased melanin but a normal number of melanocytes by FontanaMasson staining, consistent with a diagnosis of nevus depigmentosus and milia formation.
对应中文
Taniguchi等人报道了一名3个月大的健康男孩，他有2个月的大面积色素减退和斑块史，并局限于脱色区域伴有大量白色小丘疹。组织学上，他们发现真皮层处有一个小的表皮囊肿，经过黑色素染色，基底层色素减退，黑色素减少，但黑素细胞数量正常，符合脱色素痣和粟丘疹形成的诊断。
GENODERMATOSES WITH MILIA
遗传性皮肤病伴粟丘疹
英文原文
Milia may be a major or minor feature of many genodermatoses .
对应中文
粟丘疹可能是许多遗传性皮肤病的主要或次要特征。
Miscellaneous/other genodermatoses with milia
多种多样/其他遗传性皮肤病伴粟丘疹
英文原文
Prominent milia have been observed in a case of Loeys-Dietz syndrome, an autosomal dominant marfanoid disorder caused by TGFBR1 or TGFBR2 gene mutations and characterized by hypertelorism, cleft palate or bifid uvula, malar hypoplasia, blue sclerae, joint laxity, scoliosis, aortic root aneurysm, and arterial tortuosity.
对应中文
Loeys-Dietz综合征病例中被观察到有明显的粟丘疹表现，它是一种由TGFBR1或TGFBR2基因突变引起的常染色体显性马凡氏综合征，其特征是口角肥大、口腔腭裂或悬雍垂裂、颧骨发育不良、蓝色巩膜、关节松弛、脊柱侧弯、主动脉根部动脉瘤和动脉迂曲。
Genodermatoses with secondary milia
遗传性皮肤病伴继发性粟丘疹
英文原文
Milia are a feature of many types of EB, especially dystrophic EB, EB acquisita, and sometimes DowlingMeara EBS (EBS herpetiformis) . Other EB types (junctional EB, localized/Weber-Cockayne EBS, generalized/Koebner EBS) demonstrate few or no milia. Depending on the time of presentation, milia may be particularly prominent in the variant of dystrophic EB known as transient bullous dermolysis of the newborn. Jouary et al described a 4-month-old boy with transient bullous dermolysis of the newborn who presented with a ‘‘disturbing milia eruption’’ on facial and acral extensor skin without other lesions. The history revealed a few small acral blisters during the first days of life. Transient bullous dermolysis of the newborn is a rare, controversial condition characterized by neonatal trauma-induced blisters on the extremities, lasting approximately 2 months, and usually followed by milia.A minority of cases demonstrate a positive family history, oral lesions, onychodystrophy, scarring, or hypopigmentation. Pathologic features include a sublamina densa split, damaged and decreased anchoring fibrils, dilated rough endoplasmic reticulum in basal keratinocytes, and stellate bodies containing procollagen 7 in basal keratinocytes. Several cases have demonstrated COL7A1 gene mutations with autosomal dominant or recessive inheritance.
对应中文
粟丘疹是许多类型EB(大疱性表皮松解症)的特征，特别是营养不良型EB、获得性EB，有时也包括Dowling-Meara型重型EB（EBS疱疹性）。其他类型的EB（结节型EB、局部/手足单纯型EBS、全身/泛发型EBS）很少或没有粟丘疹。根据发病时间的不同，在营养不良型EB的变异中粟丘疹可能特别突出，被称为新生儿暂时性大疱性皮肤松解症。Jouary等人描述了一个患有新生儿暂时性大疱性皮肤松解症的4个月男孩，他的面部和腋下外侧皮肤出现了 “令人不安的粟粒样皮疹”，没有其他病变。病史显示，在出生后的头几天里，他曾有几个小的腋窝水疱。新生儿暂时性大疱性皮肤松解症是一种罕见的、有争议的疾病，其特点是新生儿外伤引起的四肢水疱，持续约2个月，通常随后出现粟粒疹。少数病例有阳性家族史、口腔病变、毛细血管扩张、瘢痕或色素沉着。病理特征包括板下致密分裂，锚定纤维受损和减少，基底层角质形成细胞粗面内质网扩张，基底层角质形成细胞内含有前7型胶原的星状小体。一些病例显示COL7A1基因突变为常染色体显性或隐性遗传。
Genodermatoses with milia-like lesions
伴粟粒样病变的遗传性皮肤病
英文原文
Milia-like lesions (here, used to describe lesions that resemble milia clinically but not histologically) have been described in several genodermatoses. Marie-Unna hypotrichosis (MUS) (OMIM 146550) is a rare (＜20 families) autosomal dominant disorder characterized by the development of wiry, twisted, coarse hair during early infancy, progressive patterned alopecia after puberty (affecting the vertex and hair margins, with high frontal hairline), and loss of eyebrows, eyelashes, and body hair. In 1971, Solomon et al reported a 5-generation family with MUS with the unusual feature of milia-like lesions on the face at birth, which could be ‘‘removed by gently rubbing’’ and resolved within months, but commonly recurred up to 6 years of age. Biopsy specimen of a single milia-like lesion ‘‘revealed that it was in fact the result of a keratinous plug occluding a dilated and deformed hair follicle’’ without cyst formation. Other rare associations reported with MUS include juvenile macular degeneration and widely spaced upper incisor teeth.Interestingly, multiple studies have mapped MUS to 8p21, near the Hairless gene mutated in alopecia universalis congenita/APL. However, sequencing has not identified mutations in the Hairless or other candidate genes and alopecia universalis congenita/APL has autosomal recessive rather than dominant inheritance. MUS has also been mapped to chromosome 1, suggesting genetic heterogeneity.
对应中文
在几种遗传性皮肤病中，粟粒样病变（这里用来描述临床上类似于粟粒疹但不是组织学上的病变）已经被说明。玛丽·恩纳毛发不足（MUS）（OMIM 146550）是一种罕见的（＜20个家族）常染色体显性遗传病，其特征是在婴儿早期出现坚硬、糟乱、粗糙的头发，青春期后逐渐出现模式化脱发（影响头顶和发际线，额部发际线高），眉毛、睫毛和体毛脱落。1971年，Solomon等人报道了一个5代同堂的MUS家族，出生时脸上有罕见的粟粒样病变，这些病变可以通过 “轻轻擦拭 “去除，并在几个月内消失，但通常复发到6岁时。单个粟粒疹病变的活检标本显示，实际上它是由扩张变形的毛囊中的角质栓塞造成的，但没有形成囊肿。其他罕见的与MUS有关的报告包括青少年黄斑变性和上门牙间距过大。有趣的是，多项研究将MUS定位到8p21，靠近在先天性脱发/APL中突变的无毛基因。然而，测序并没有发现无毛基因或其他候选基因的突变，而且先天性秃发症/APL是常染色体隐性遗传，而不是显性遗传。MUS也被定位到1号染色体上，这表明其具有遗传异质性。
Treatment
治疗
英文原文
The most effective treatment for an individual milium is simple evacuation, such as by nicking it with a scalpel blade and applying tangential pressure with a comedone extractor or currette. Several articles have described ‘‘surgical pearls’’ for treating milia, including evacuation with a paper clip and enucleation with a bent disposable hypodermic needle.Topical retinoids and mild electrocautery or electrodesiccation are treatment options for multiple milia.
对应中文
对单个粟粒疹最有效的治疗方法是简单的清除，例如用手术刀片将其划破，然后用粉刺针或刮匙施加压力。有几篇文章描述了治疗粟丘疹的 “外科手术珍珠”，包括用回形针抽取和用弯曲的一次性皮下注射针头摘除。外用维甲酸和轻度电灼或电极切割是治疗多发性粟丘疹的选择。
Conclusions
结论
英文原文
In 1956, Epstein and Kligman wrote that ‘‘milia are probably the commonest benign tumors of the skin.’’ They believed that research into the pathogenesis of milia could ‘‘[throw] light on the origin of other types of benign growths.’’ Although their use of the term ‘‘tumor’’ may be challenged in some or all forms of milia, their statement nevertheless highlights how common and perhaps fundamental these lesions are, despite the little attention given to them in the literature and the lack of studies of their origin. We hope the expanded classification presented here demonstrates that milia are not only common but have a rich variety of interesting variants.
对应中文
1956年，Epstein和Kligman写道：“粟丘疹可能是最常见的皮肤良性肿瘤”。他们认为，对粟丘疹发病机制的研究可以“揭示”其他类型良性肿瘤的起源”。尽管在某些或所有形式的粟丘疹中，可能对他们使用“肿瘤”一词质疑，但他们的声明仍然突出了这些病变的普遍性和基础性，尽管文献中对它们的关注研究很少，而且缺乏对其起源的研究。我们希望这里提出的扩展分类表明，粟丘疹不仅常见，而且有丰富的有趣变异。
REFERENCES
1.Berk DR, Bayliss SJ. Milia: a review and classification.J Am Acad Dermatol. 2008;59(6):1050-1063.