Goldenhar syndrome
Accessory auricle and preauricular fistula: Accompanied by ear abnormalities.
Spinal abnormalities: Associated with vertebral malformations.
Mandibular hypoplasia: Causes facial asymmetry.
Orbital Dermolipoma
Key Points at a Glance
Section titled “Key Points at a Glance”1. What is orbital dermolipoma?
Section titled “1. What is orbital dermolipoma?”Lipodermoid, also called dermolipoma, is a congenital choristoma of the ocular surface containing adipose tissue. A choristoma refers to histologically normal tissue present in an abnormal location and is not a true tumor. It is thought to form from ectodermal tissue trapped within the mesoderm during optic cup formation.
Dermoid is a general term for choristomas arising in the cornea, limbus, or conjunctiva, resulting from abnormal development of the first and second branchial arches during embryogenesis. Lipodermoid is a similar choristoma but is characterized by containing more fatty components. It is non-hereditary, sporadic, and unilateral from birth.
Choristomatous lesions account for 10–30% of conjunctival tumors in children, and epibulbar dermoids are the most common episcleral choristomas in children 1). The median age at presentation is 16 years, with a female predominance.
There is a strong association with Goldenhar syndrome; 32% of 57 Goldenhar syndrome cases had epibulbar dermoids or lipodermoids. Conversely, in a case series of lipodermoids, 35% had Goldenhar syndrome.
Q
Can lipodermoid become malignant?
A
Dermolipoma is a choristoma, in which normal tissue is present in an ectopic location. It has no potential for malignancy and follows a benign course.
2. Main symptoms and clinical findings
Section titled “2. Main symptoms and clinical findings”
Wiedenmann CJ, Reinhard T, Auw-Hadrich C. Caruncle dysgeneses - A case series. Am J Ophthalmol Case Rep. 2023 Jun 10;31:101868. Figure 4. PMCID: PMC10277460. License: CC BY.
Clinical photograph showing a yellowish-white fatty tissue with hairs on the temporal side of the caruncle. It shows the appearance of a soft fatty mass protruding onto the conjunctival surface.
Subjective symptoms
Section titled “Subjective symptoms”Dermolipoma is congenital, but often remains asymptomatic for many years and may not be discovered until adulthood. It is often first noticed when lifting the eyelid for makeup application or contact lens insertion.
- Ocular surface irritation symptoms: Caused by mechanical irritation from the pilosebaceous structure or disruption of the tear film.
- Ptosis: May occur due to compression by the mass.
- Decreased visual acuity: May present as amblyopia secondary to corneal astigmatism. Corneal astigmatism caused by dermoid requires attention.
Clinical Findings (Findings Confirmed by Physician Examination)
Section titled “Clinical Findings (Findings Confirmed by Physician Examination)”Dermolipoma appears as a yellowish-white, firm mass adherent to the conjunctiva. It cannot be moved freely and cannot be repositioned into the orbit. It is usually unilateral but can be bilateral.
- Predilection site: Most occur superotemporally between the lateral rectus and superior rectus muscles.
- Size: 3 mm to as large as 10 mm in diameter.
- Surface characteristics: Keratinized on the skin, causing tears to bead off. Hair is often observed on the surface.
- Distortion of the lateral canthus: The mass may distort the shape of the outer corner of the eye.
The main clinical signs are shown below.
| Sign | Characteristic |
|---|---|
| Yellow-white mass | Hard, palpable |
| Distortion of the lateral canthus | Deformity due to mass |
| Astigmatism | Due to corneal deformation |
| Strabismus | Rarely associated |
Q
Can dermolipoma cause amblyopia?
A
Astigmatism induced by dermolipoma itself is milder than that caused by dermoid. However, if corneal astigmatism is present, there is a risk of amblyopia, and regular evaluation with visual acuity and refraction tests is important.
3. Causes and Risk Factors
Section titled “3. Causes and Risk Factors”Dermolipoma is a congenital choristoma derived from ectodermal sequestration during embryonic development. Abnormalities in the formation of the first and second branchial arches during the embryonic period are involved.
It may occur in isolation, but it can also occur in association with the following systemic syndromes.
Other related syndromes
Other associations include coloboma, osteoma, corneal limbal dermoid, and facial nerve palsy.
Q
What tests are needed if Goldenhar syndrome is suspected?
A
A systemic examination is necessary to check for ear abnormalities such as accessory ear and preauricular fistula, spinal deformities, and mandibular hypoplasia. For details, refer to the “Causes and Risk Factors” section.
4. Diagnosis and Examination Methods
Section titled “4. Diagnosis and Examination Methods”Dermolipoma is located near the surface, so it can be easily diagnosed by clinical examination.
Clinical Examination
Section titled “Clinical Examination”- Visual acuity test and refraction test: Important for assessing the risk of amblyopia.
- Anterior segment examination: Observe the characteristics of the mass using a slit lamp microscope.
- Dilated fundus examination: Necessary to search for other ocular abnormalities.
- Strabismus examination: To check for ocular motility disorders.
- Retropulsion: Useful for differentiating dermolipoma from orbital fat prolapse. In orbital fat prolapse, retropulsion increases the amount of prolapse.
Imaging
Section titled “Imaging”On CT/MRI, it appears as a crescent-shaped or triangular fatty mass anterior to the insertion of the lateral rectus muscle in the superotemporal quadrant of the globe and medial to the lacrimal gland. Usually, there is no continuity with intraconal fat. Since it is a benign lesion, CT exposure should be avoided as much as possible, especially in children.
Differential Diagnosis
Section titled “Differential Diagnosis”| Differential diagnosis | Key points for differentiation |
|---|---|
| Orbital fat prolapse | Common in elderly. Increases with pressure |
| Dermoid cyst | Cystic. Retains secretions |
| Lacrimal gland cyst/prolapse | Localized to lacrimal gland area |
| Conjunctival lymphangioma | Salmon pink color |
| Conjunctival lymphoma | Salmon pink color. Elderly patients |
Pathological Findings
Section titled “Pathological Findings”It consists of adipose tissue, collagen tissue, and skin appendages (which may include hair follicle sebaceous structures and lacrimal gland tissue), and is covered by connective tissue and the surface epithelium of the conjunctiva. As it is a choristoma, it is composed of normal tissue and has no potential for malignant transformation.
5. Standard Treatment
Section titled “5. Standard Treatment”Conservative Treatment
Section titled “Conservative Treatment”Small, asymptomatic dermolipomas do not require treatment. Symptoms may be managed with lubrication using artificial tears or anti-inflammatory eye drops.
Surgical Indications
Section titled “Surgical Indications”Surgery is considered in the following cases.
- Impact on the visual axis: When it causes visual impairment
- Induction of astigmatism: When there is a risk of amblyopia
- Persistent irritation: When conservative treatment does not improve
- Cosmetic issues: When noticeable in primary gaze or during adduction
Reduction surgery for dermolipoma
Section titled “Reduction surgery for dermolipoma”Rather than complete resection, surgical debulking is the standard approach. Only the anterior portion of the mass is removed, preserving the conjunctiva while removing as much of the dermolipoma and pilosebaceous units anterior to the orbital rim as possible.
- Anesthesia: Intravenous sedation or general anesthesia is selected based on the patient’s age. General anesthesia is required for surgery in young children.
- Incision: Use Westcott scissors to incise the conjunctiva medial to the lesion.
- Dissection: Anteriorly, dissect between the conjunctiva and the underlying lesion to preserve the conjunctiva. Posteriorly, dissect between the dermolipoma and Tenon’s capsule.
- Closure: Close the conjunctiva with interrupted sutures using 6-0 plain gut or buried sutures using 7-0 Vicryl.
- Postoperative care: Apply steroid/antibiotic ophthalmic ointment and reassess after one week.
Excision of Limbal Dermoid
Section titled “Excision of Limbal Dermoid”Simple excision of a limbal dermoid alone often leads to recurrence and pseudopterygium, and because it extends into the corneal stroma, the cornea becomes thin after excision. Therefore, combined superficial keratoplasty is recommended.
- If it extends to the central cornea: Early surgery is necessary.
- If it is localized to the limbus and not growing: Surgery is cosmetic and is performed after infancy.
- Management of amblyopia: If preoperative visual acuity is poor, postoperative amblyopia training may not improve vision, so treatment to improve visual acuity should be started before surgery.
Q
Is surgery always necessary?
A
If the lesion is small and asymptomatic, surgery is not required, and conservative treatment such as artificial tears may be sufficient. Surgical indications are limited to cases with visual axis involvement, induced astigmatism, persistent irritation, or cosmetic concerns. For details, see the section on “Standard Treatment.”
6. Pathophysiology and Detailed Pathogenesis
Section titled “6. Pathophysiology and Detailed Pathogenesis”A choristoma is a mass of histologically normal tissue located in an abnormal site. In contrast, a hamartoma is a benign tumor composed of an abnormal mixture of cells and tissues normally present at that site; the two are conceptually distinct.
The tissues composing a dermolipoma include both ectodermal derivatives (hair, skin, and rarely teeth) and mesodermal derivatives (adipose tissue, cartilage). It may also adhere to the lacrimal gland or underlying bone.
Dermolipoma
Adipose tissue: Contains a large amount and is the main component.
Epithelium: Covered by surface epithelium continuous with the conjunctiva.
Adnexa: May include pilosebaceous structures and lacrimal gland tissue.
Dermoid
Connective tissue: Mainly composed of collagen connective tissue resembling the dermis.
Epithelium: Composed of epidermal epithelium.
Interior: Filled with collagen fibers, including sebaceous glands, hair follicles, and sweat glands.
Both are separation tumors, thus composed of normal tissue, with no potential for malignancy.
7. Latest Research and Future Prospects (Research Stage Reports)
Section titled “7. Latest Research and Future Prospects (Research Stage Reports)”Surface Reconstruction with Lamellar Corneal Patch Graft
Section titled “Surface Reconstruction with Lamellar Corneal Patch Graft”Conventional excision of limbal dermoid has been associated with recurrence and pseudopterygium formation after simple excision. Recently, the usefulness of lamellar corneal patch grafts for surface reconstruction after excision has been reported.
Roels (2024) performed lamellar corneoscleral excision followed by anterior lamellar corneal patch graft transplantation in three cases of limbal dermoid (4-year-old, 18-year-old, and 8-year-old, all female). Pathological examination confirmed benign lipodermoid in all cases. Corneal astigmatism decreased from 2.75 D to 0.75 D in case 1 and stabilized at 1.75 D in case 2. Case 3 had preexisting severe amblyopia, and surgery was performed for cosmetic purposes only. In all cases, the postoperative corneal graft was clear with no inflammation or epithelial defects, and no recurrence or pterygium formation was observed during follow-up1).
This report indicates that the depth, size, and location of the lesion are important factors in surgical planning and suggests that combining corneal patch grafts may achieve excellent anatomical and visual outcomes1).
8. References
Section titled “8. References”- Roels D. Limbal lipodermoid excision and surface reconstruction using lamellar corneal patch graft. Am J Ophthalmol Case Rep. 2024;34:102053.
- Rooijers W, Caron CJJM, Loudon SE, Padwa BL, Dunaway DJ, Forrest CR, et al. Ocular and adnexal anomalies in craniofacial microsomia: a systematic review. Int J Oral Maxillofac Surg. 2020;49(9):1107-1114. PMID: 32217034.
- Walker BA, Saltzman BS, Herlihy EP, Luquetti DV. Phenotypic characterization of epibulbar dermoids. Int Ophthalmol. 2017;37(3):499-505. PMID: 27405313.