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Milia: a Review and Classification 15 March 2005 Use of Articles in the Pachyonychia Congenita Bibliography The articles in the PC Bibliography may be restricted by copyright laws. These have been made available to you by PC Project for the exclusive use in teaching, scholar- ship or research regarding Pachyonychia Congenita. To the best of our understanding, in supplying this material to you we have followed the guidelines of Sec 107 regarding fair use of copyright materials. That section reads as follows: Sec. 107. - Limitations on exclusive rights: Fair use Notwithstanding the provisions of sections 106 and 106A, the fair use of a copyrighted work, including such use by reproduction in copies or phonorecords or by any other means specified by that section, for purposes such as criticism, comment, news reporting, teaching (including multiple copies for classroom use), scholarship, or research, is not an infringement of copyright. In determining whether the use made of a work in any particular case is a fair use the factors to be considered shall include - (1) the purpose and character of the use, including whether such use is of a commercial nature or is for nonprofit educational purposes; (2) the nature of the copyrighted work; (3) the amount and substantiality of the portion used in relation to the copyrighted work as a whole; and (4) the effect of the use upon the potential market for or value of the copyrighted work. The fact that a work is unpublished shall not itself bar a finding of fair use if such finding is made upon consideration of all the above factors. We hope that making available the relevant information on Pachyonychia Congenita will be a means of furthering research to find effective therapies and a cure for PC. 2386 East Heritage Way, Suite B, Salt Lake City, Utah 84109 USA Phone +1-877-628-7300 • Email—[email protected] www.pachyonychia.org Milia: A review and classification David R. Berk, MD, and Susan J. Bayliss, MD Saint Louis, Missouri 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. ( J Am Acad Dermatol 2008;59:1050-63.) ilia (singular: milium) are small (generally # 3 mm) white, benign, superficial kerat- Abbreviations used: inous cysts. Histologically, they resemble APL: atrichia with papular lesions M BCNS: Basal cell nevus syndrome miniature infundibular cysts, containing walls of BDCS: Bazex-Dupre-Christol syndrome stratified squamous epithelium several layers thick BFH: basaloid follicular hamartoma with a granular cell layer (Fig 1). Although benign CK: cytokeratin EB: epidermolysis bullosa primary milia are commonly encountered in clinical EBS: epidermolysis bullosa simplex practice, milia also occur in a variety of other condi- EVHC: eruptive vellus hair cyst tions, many of which are rare. They may arise either GBFHS: generalized basaloid follicular hamartoma syndrome spontaneously (primary milia) or secondary to var- MEM: multiple eruptive milia ious processes (secondary milia), as few or many MEP: milia en plaque lesions, and isolated or associated with other clinical MUS: Marie-Unna hypotrichosis 1 OFDS: orofaciodigital syndrome findings. Hubler et al proposed dividing milia into OMIM: Online Mendelian Inheritance in Man primary, secondary, and ‘‘other’’ types, a classifica- PC: pachyonychia congenita tion that Wolfe and Gurevitch2 modified. Here, we SCM: steatocystoma multiplex present an updated classification (Table I) and review. epidermis. They challenged the previously held ORIGIN notion that milia represent plugged hair follicles 3-6 Few studies have investigated the origin of milia. that then become retention cysts. With primary milia, In general, primary milia are thought to originate from they observed strandlike connections from milial the sebaceous collar of vellus hairs (lower infundib- cysts to the external root sheath of vellus hair ulum), whereas secondary milia are believed to derive follicles, near where the sebaceous ducts attach. from eccrine ducts more commonly than from over- With EB, milia were seen in connection with eccrine lying epidermis, hair follicles, or sebaceous ducts. ducts. Postdermabrasion milia were thought to arise 3 Epstein and Kligman performed serial sectioning from amputated sebaceous lobules that seemed to of 4 types of milia: primary milia and secondary milia initially dedifferentiate, then either redifferentiate caused by epidermolysis bullosa (EB), dermabra- into sebaceous glands, which could reconnect to sion, and experimental autotransplantations of hair follicles, or differentiate into milia. With exper- imental autotransplantations, milia connected to the From the Departments of Internal Medicine and Pediatrics, Divi- external root sheath (near the arrector pili muscle sion of Dermatology, Washington University School of Medi- insertion) or to the overlying epidermis. cine and Saint Louis Children’s Hospital. 4 Funding sources: None. Tsuji et al performed serial sectioning of 69 biopsy Conflicts of interest: None declared. specimens of secondary milia from 8 patients with Reprint requests: David R. Berk, MD, Division of Dermatology, blistering disorders (EB, dermatitis herpetiformis, bul- Washington University School of Medicine, 660 S Euclid, Campus lous pemphigoid, herpes zoster, and second-degree Box 8123, St Louis, MO 63110. E-mail: [email protected]. burns). In 75% of specimens, milia connected to Published online September 26, 2008. 0190-9622/$34.00 eccrine ducts, usually at the base of the milium with a ª 2008 by the American Academy of Dermatology, Inc. 1:1 eccrine duct:milium ratio. In only 1/69 specimens, doi:10.1016/j.jaad.2008.07.034 the milia connected with hair follicles. In the remaining 1050 JAM ACAD DERMATOL Berk and Bayliss 1051 VOLUME 59, NUMBER 6 Fig 1. Biopsy specimen of milium within scar demon- strating miniature infundibular cyst, containing walls of stratified squamous epithelium (Hematoxylin-eosin stain; original magnification: 3200.) (Photograph courtesy of Dr Anne Lind, used with permission.) Table I. Classification of milia Primary milia Congenital Benign primary milia of children and adults Milia en plaque Fig 2. Numerous congenital milia on face of infant. Nodular grouped milia Reprinted with permission from Mallory SB, Bree AF, Multiple eruptive milia Chern P. Illustrated Manual of Pediatric Dermatology: Nevus depigmentosus with milia Diagnosis and Management. Taylor & Francis Books UK; Genodermatosis associated* 2005. p. 11. Fig 2.4. Secondary milia Disease associated Medication associated eccrine ducts ‘‘parallels the growth of milia’’ and Trauma associated suggests an acrosyringeal origin for secondary milia. Broekaert et al6 sought to elucidate the differen- *Milia in some genodermatoses (epidermolysis bullosa, porphyrias) may be better classified as secondary milia. tiation state of various epithelial cysts and tumors, including primary milia (10 cases), using immuno- histochemical staining for CKs. Milia and larger (23%) specimens, serial sections did not demonstrate a epidermoid cysts stained nearly identically, with connection to either eccrine ducts or hair follicles. Tsuji basal layer CK14 reactivity; suprabasal CK1, CK10, et al4 also described incomplete (open) and complete and CK16 reactivity; CK5 reactivity in all layers of the (closed) forms of secondary milia. wall; and variable CK4 reactivity of the cyst contents. Honda et al5 examined the structure of secondary This staining pattern closely resembled that of nor- milia from 9 biopsy specimens using serial sectioning, mal overlying epidermis with the exception of CK16 3-dimensional reconstruction, and immunohisto- reactivity, a hyperproliferative marker. chemical staining for cancer antigen-50, carcinoem- An ideal classification of milia might be based on bryonic antigen, and cytokeratin (CK)-19. Staining the origin (sebaceous collar vs eccrine) and staining patterns suggested that complete secondary milia patterns of milia. Unfortunately, these characteristics were entirely of eccrine origin (based on the diffuse are rarely investigated or reported. staining of cyst walls with eccrine markers), whereas incomplete secondary milia were derived from a PRIMARY MILIA combination of eccrine tissue and overlying or Congenital milia surrounding epidermis (based on their finding that Congenital milia occur in 40% to 50% of newborns, the apical portions of these incomplete milia did not favoring the face (especially the nose), scalp, upper stain for eccrine markers). They observed that mature aspect of trunk, and upper extremities, without sig- eccrine ducts entered at the base of the milia and took nificant racial or sex difference (Fig 2).7-13 Congenital an elongated circular course within the milial wall. milia present with a few or numerous lesions and tend They hypothesized that this circular path of the to resolve spontaneously within weeks to several 1052 Berk and Bayliss JAM ACAD DERMATOL DECEMBER 2008 Fig 4. Two primary milia on nares of child. Fig 3. Milia on back of nose. months. Milia may be less common and of delayed onset in premature newborns.12 The main differential diagnosis is sebaceous hyperplasia, which appears as follicular grouped pinpoint whitish yellow papules around
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