Conjunctival Pigmentation Research Articles

EEC syndrome

Dear Editor, We are reporting a case consisting of ectrodactyly, ectodermal dysplasia and clefting of lip and palate (EEC syndrome) with a very rare constellation of ocular features. The term EEC syndrome was coined by Rudiger et al.1 in 1970. It is a complex pleiotropic multiple congenital anomaly/dysplasia syndrome in which any one of the stigmata or cardinal signs are present in variable expression. A ten-year-old male child was referred to us from the cleft lip and palate clinic with bilateral cleft lip and palate. There was history of nonconsanguineous marriage with full term normal delivery conducted at home. There were no similar complaints in the family. The child has four siblings and none of them have abnormalities. On examination the child had cleft lip and palate with midline clefting [Fig. 1], speech was hypernasal with mild conductive hearing loss.2 Enamel hypoplasia with partial anodontia was also present.Figure 1: Bilateral cleft lip and palate with midline cleftingOphthalmological findings were confined to the adnexae and anterior segment. The features were hypertelorism [Fig. 2], entropion, punctal scarring, hypotrichiasis, absent meibomian glands [Fig. 3] and blepharitis. Child had photophobia, showing papillary conjunctivitis, conjunctival pigmentation and dryness. Nasolacrimal duct was blocked with chronic dacryocystitis. Tear formation and tear break up time was decreased. Rest of the anterior segment was normal with good visual acuity.Figure 2: Hypertelorism with cleft lip with midline cleftingFigure 3: Absence of meibomian orifice with blepharitisSkeletal anomalies were, ectrodactyly of both hands,3 syndactyly in fourth, fifth fingers and toes (ectrosyndactyly). A typical lobster claw hand4 deformity [Fig. 4] was also present. Skin was dry, scaly and hypopigmented. Body hair, eyebrows and lashes were sparse and poorly developed. Patient was of normal intelligence. X-ray of hands and teeth confirmed ectrodactyly and syndactyly.Figure 4: Distal limb abnormalities – EctrodactylyManagement of these cases is difficult from both the practical and psychological standpoint and is by multidisciplinary approach; the team comprises plastic and dental surgeons, ophthalmologist, dermatologist and a speech therapist. The child was advised artificial tears for dry eye and emollients for the dry skin. Cleft lip and palate was repaired by a plastic surgeon. Speech and audiology therapy was advised. Cleft hands and syndactyly repair was also suggested. The EEC syndrome results from a developmental abnormality that simultaneously affects the ectodermal and mesodermal tissues; although each defect that comprises the syndrome has been known to occur as a separate entity, the constellation of all three anomalies appears to be a rare occurrence.12 The inheritance of this condition is autosomal dominant, although sporadic and autosomal recessive traits have been reported,5 but it is not yet clear whether the incomplete forms reflect a reduced expression of the gene or one or more separate clinical entities. It is very likely that the EEC syndrome is another example of genetic heterogeneity and the determination of its genetic mechanism or mechanisms will require that clinical variability be carefully documented and defined.4 Early diagnosis helps in counseling and reassurance.5 Acknowledgment Dr. Rajesh Powar M.S, Mch, Department of Plastic Surgery, K.L.E.S's Hospital and M.R.C, Belgaum.

Primary acquired melanosis of the conjunctiva

Background Primary acquired melanosis (PAM) presents as a unilateral patchy area of conjunctival pigmentation mostly found in middle-aged or elderly white patients. Because PAM has the potential of becoming malignant, it is important to recognize PAM and to rule out other causes of pigmented lesions. The presence or absence of atypia is helpful in determining the potential for malignancy, because PAM without atypia is usually benign, whereas PAM with atypia may convert into a conjunctival melanoma. If atypia is present, the presence or absence of epithelioid cells and the pattern of intraepithelial growth are the main factors in determining the likelihood of neoplastic transformation. However, atypia can only be determined with histopathologic examination. Therefore, a biopsy is usually recommended. Case report A 72-year-old white man presented for his annual examination with no visual complaints. His ocular history was remarkable for early cataracts and for a choroidal nevus. Slit lamp examination found a large dark area of elevated conjunctival pigmentation at the medial canthus that extended onto the superior bulbar conjunctiva and superior palpebral conjunctiva in the left eye. No conjunctival pigmentation had been noted previously. Results of a biopsy indicated primary acquired melanosis with atypia. The lesion was surgically excised, and the conjunctiva was reconstructed with an amniotic membrane graft. The patient was subsequently treated with topical 5-fluorouracil chemotherapy. There have been no signs of recurrence to date after his treatment. Conclusion Because of the potential for malignancy, biopsies of all cases of primary acquired melanosis are indicated. If atypia is present, treatment options include local excision, cryotherapy, and topical chemotherapy.

Acquired Dermal Melanocytosis: A Case with Conjunctival and Gingival Pigmentation

A 28-year-old Japanese woman was referred to us because of widespread bilateral blue-gray and brown pigmentation on her face. Pigmentation was apparant on both sclerae, the alae of the nose, the lower lip and the gingiva; and it was also evident on her extremities. A biopsy specimen revealed melanin-containing cells and numerous mononulear cells in the upper dermis, particularly, near the small vessels. The melanin-containing cells immunoreacted with S100-specific antibodies but did not react with CD68-specific antibodies, these observations indicated that they were melanocytes. A diagnosis was made of acquired dermal melanocytosis (ADM), even though ADM is very rarely associated with conjunctival and mucosal involvement. Dermal melanocytes and large numbers of mononuclear cells adjacent to small vessels in the upper dermis have not previously been reported in ADM. Such melanocytes might play an important role in protecting blood cells from ultraviolet light. The presence of mononuclear cells close to melanocytes suggests that an inflammatory reaction might have initiated the activation of these dermal melanocytes.

Perilimbal bulbar conjunctival pigmentation in vernal conjunctivitis: prospective evaluation of a new clinical sign in an Indian population.

To prospectively evaluate the occurrence of perilimbal conjunctival pigmentation in patients with vernal conjunctivitis and normal controls; to document the location, extent, density, and color of such pigmentation; and to correlate these changes with disease severity. Prospective, noninterventional case-control study. Demographic data, disease symptoms and duration, clinical signs of disease severity and extent, and characteristics of the perilimbal pigmentation were recorded. Twenty-five patients with vernal conjunctivitis and 30 controls were studied. The mean age of the patients (21 M, 4 F) and controls (18 M, 12 F) was 7.5 +/- 3.7 years and 10.3 +/- 3.1 years, respectively. Perilimbal pigmentation was seen in all patients with vernal conjunctivitis and in none of the controls. The palpebral conjunctival changes and patient symptoms correlated with the severity of the disease in patients with vernal conjunctivitis. However, the extent of perilimbal pigmentation did not correlate with the symptoms and signs of vernal conjunctivitis or the density of palisadal pigment. Perilimbal bulbar conjunctival pigmentation appears to be a consistent finding in patients with vernal conjunctivitis that is both specific and sensitive. It is also present in eyes with inactive disease and hence is a useful clinical sign that aids diagnosis in patients with mild or quiescent disease. Further studies are required to establish the histopathologic correlation of this finding and its etiopathogenesis. It is also important to establish whether this finding occurs with the same frequency in eyes of whites, as this study was performed in a cohort of Asian patients who have greater limbal pigmentation and a higher incidence of limbal changes in vernal conjunctivitis.

Eye health service in Greenland.

Eye health service in Greenland.

Potentially life-threatening primary acquired melanosis

Primary acquired melanosis is an acquired conjunctival pigmentation seen in Caucasians. It presents as a diffuse, patchy, unilateral area of pigmentation that can be flat or nodular. Other melanotic lesions such as ocular melanosis, argyrosis, congenital conjunctival melanosis can be confused with primary acquired melanosis. Diagnosis and management of primary acquired melanosis is critical since it is potential life-threatening. A 51-year-old while male presented with unilateral, diffuse, patchy pigmentation first noted 10 years prior. Slit lamp examination revealed a 4 mm ×2 mm area of temporal bulbar conjunctival pigmentation extending to the limbus in the right eye. A biopsy was performed and pathologic examination disclosed primary acquired melanosis with atypia. Topical mitomycin-C therapy was initiated. Because of the large size and diffuse nature of the pigmentation, mitomycin-C was preferred since surgical excision would be destructive and has related risks of scarring, goblet cell loss, and associated side effects such as dry eye and ulceration. Two months, following treatment with mitomycin-C, significant clinical improvement was observed. A careful patient history is key in diagnosis primary acquired melanosis including a detailed history including onset, duration, stability, and progression of the pigmentation. All cases of primary acquired melanosis should be referred for biopsy. If atypia is found, traditional treatment includes surgical removal or cryotherapy. However, if the area is large side effects can occur. Mitomycin-C eliminates these potential side effects and can be used to successfully treat primary acquired melanosis.

Telemedical evaluation of ocular adnexa and anterior segment

Purpose: To report the accuracy of telemedical slit-lamp evaluation in examination of ocular adnexa and anterior segment. Methods: By means of contingency tables, slit-lamp findings by live examination and by real-time telemedicine were compared in 50 eyes of 25 patients. Results: Sensitivity percentages (proportion with findings correctly identified by telemedicine)/specificity percentages (proportion without the finding that was correctly identified by telemedicine) were 100/64 for eyelid mass, 100/85 for conjunctival pigment, 100/100 for posterior synechiae, 80/0 for blepharitis, 83/93 for iridotomy, 70/93 for pinguecula, 75/93 for iris lesions, 56/98 for corneal scar, 0/100 for chamber inflammation, 57/93 for nuclear cataract, and 37/100 for intraocular lens presence. Conclusions: By means of monocular slit-lamp telemedical evaluation, clinical findings with high contrast cues for color and depth have the highest sensitivity and specificity.

Topical mitomycin C chemotherapy for conjunctival melanoma and PAM with atypia

AIMTo evaluate topical mitomycin C (MMC) chemotherapy in the treatment of conjunctival melanoma and primary acquired melanosis with atypia.METHODSIn a phase I clinical trial, 10 patients with conjunctival melanoma and/or...

Conjunctival amelanotic malignant melanoma arising in primary acquired melanosis sine pigmento

The authors describe an amelanotic malignant melanoma of the conjunctiva in association with primary acquired melanosis (PAM) sine pigmento, and highlight the clinical and pathologic features of this rare entity. Histopathologic and immunohistochemical studies were performed on a conjunctival tumor in a 54-year-old white woman. Case report. Histopathologic examination revealed an invasive amelanotic melanoma of the conjunctiva, with anterior orbital extension arising from intraepithelial dysplastic melanocytes that lacked melanin pigment (PAM sine pigmento). Both the malignant melanoma cells and the intraepithelial dysplastic melanocytes in the areas of PAM exhibited S-100 and HMB-45 positivity. The patient underwent an orbital exenteration that disclosed tumor within the anterior orbit inferiorly. Amelanotic invasive malignant melanoma can arise in association with PAM sine pigmento, as seen in our patient who had orbital invasion necessitating exenteration. This aggressive form of conjunctival melanoma is often associated with a poor prognosis and risk of metastatic disease. Absence of conjunctival pigmentation in PAM sine pigmento prevents early clinical detection of this variant of PAM. This lack of pigmentation also makes clinical diagnosis virtually impossible, and diagnosis can only be established histopathologically. Awareness of this nonpigmented variety of PAM is crucial for early recognition and appropriate management of the associated melanoma.

Pigmented Conjunctival and Scleral Lesions

The multiple causes of pigmentations of the conjunctiva and sclera are reviewed, and the recommended therapeutic modalities are discussed. Information from personal experience and the recent literature is summarized to determine the optimal diagnostic and treatment approaches for suspicious pigmented conjunctival and scleral lesions. Clinical descriptions and illustrations are presented to characterize these ocular lesions. Pigmented lesions of the conjunctiva and sclera arise from either melanocytes or nonmelanocytes and have a diverse differential diagnosis. These lesions can be classified into congenital melanosis, conjunctival nevi, acquired melanosis (secondary or primary), and conjunctival melanomas. In secondary acquired melanosis, the increased conjunctival pigmentation is caused by irradiation, hormonal changes, chemical irritation, or chronic inflammatory conjunctival disorders. The biologic behavior of primary acquired melanosis of the conjunctiva is a controversial topic with important implications because it may progress to melanoma. In patients with primary acquired melanosis, a biopsy is recommended in order to grade the disease, offer a prognosis, and direct further treatment. Conjunctival melanomas may arise from primary acquired melanosis, from nevi, or de novo, or they may be metastatic lesions. Of the wide spectrum of melanocytic conjunctival lesions, those with malignant potential are melanosis oculi, nevus of Ota, junctional nevus, compound nevus, primary acquired melanosis, and melanomas.

Pigmented corneal nerves in leprosy patients treated with clofazimine

SUMMARY Clofazimine is a valuable drug for treatment of bacillary infection and for reactional states in leprosy. Side effects include redbrown skin pigmentation, darkening of the skin lesions; red coloration of urine, stools, sputum and sweat; and dryness of the skin and gastro-intestinal symptoms. Conjunctival pigmentation is the most common ocular side effect. Corneal and retinal changes have also been reported. We describe, for the first time, pigmentation of corneal nerves occuring in two patients, with the diagnosis of lepromatous leprosy, treated with clofazimine.

Mascara Pigmentation of the Bulbar Conjunctiva Associated with Rigid Gas Permeable Lens Wear

We present three patients who were found to have unusual pigmentation of the bulbar conjunctiva. The areas, 1 to 2 mm in size, were translucent with dark black dust-like particles randomly placed within well defined borders. These specks were usually elevated, had a granular texture, and appeared to be overlying pingueculae. All three patients wore rigid gas permeable contact lenses, were found to have either a short tear break-up time or deficient tear aqueous layer, had associated 3:00 and 9:00 o'clock staining, and routinely used heavy mascara and/or eyeliner. In one patient, the areas resolved on discontinuing contact lens wear. The elevated areas may be associated with minor discomfort. We propose that a deficient tear layer and drying adjacent to the lens edge may compromise the conjunctival epithelium and prevent efficient washing of the pigment particles from the conjunctiva, allowing these granules to become embedded in the epithelium. Additional causes of conjunctival pigmentation are discussed.

Transscleral Cyclophotocoagulation of Human Autopsy and Monkey Eyes

We studied the effect of uveal pigmentation on contact Nd:YAG transscleral cyclophotocoagulation in 36 human autopsy and eight cynomolgus monkey eyes. Ten autopsy eyes from black individuals required less energy to create a lesion than 23 eyes from whites. The mean lesion diameter at the posterior pars plicata was similar in all these eyes; however, the mean energy required was 4.4 J in the black and 6.4 J in the white eyes. Transscleral cyclophotocoagulation lowered intraocular pressure (IOP) in four monkey eyes with elevated IOP, but did not in four other eyes without elevated IOP. Treatment over conjunctival pigmentation burned the conjunctiva, even at the lowest energy tested (3.5 J). Contrary to other investigators' findings, transmission electron microscopy showed at least short-term loss of scleral architecture in both the human autopsy and monkey eyes.

The Carney Complex With Ocular Signs Suggestive of Cardiac Myxoma

We treated a patient who had ophthalmic findings of the Carney complex that led to a search for and the discovery of asymptomatic cardiac myxoma. Substantial morbidity and mortality are associated with the complex because of the occurrence of cardiac myxoma. Facial and eyelid lentigines, conjunctival and caruncle pigmentation and eyelid pigmentation may precede signs or symptoms of cardiac myxoma. A study of the patient's primary relatives disclosed manifestations of the complex transmitted in a manner consistent with mendelian autosomal dominant inheritance.

Metastatic melanoma following repeated cryotherapy of recurrent pigmentation of the conjunctiva and adjacent eyelid

The authors report a patient who had repeated cryotherapy treatments for clinically flat conjunctival and adjacent eyelid pigmentation after an initial biopsy revealed only intraepitheli-al disease: primary acquired melanosis in the conjunctiva and lentigo maligna in the adjacent eyelid skin. There was no evidence of melanoma in either location. After repeated treatments, the pigmentation totally regressed. The patient never clinically developed a tumor nodule although a small zone of pigment in the palpebral conjunctiva appeared minimally thickened. The patient died of metastatic melanoma five years after initiation of cryotherapy. The terminal diagnosis was confirmed at autopsy and no second primary melanocytic neoplasm was discovered. This case illustrates three features: (1) the difficulty in clinically distinguishing between benign primary acquired melanosis (PAM) and malignant melanoma in the palpebral conjunctiva, (2) the rare tendency of thin melanomas to metastasize, and (3) the failure of cryoth...

CONJUNCTIVAL PIGMENTATION FOLLOWING PARS PLANA VITRECTOMY

A 32-year-old white man developed distinctive episcleral and conjunctival pigmentation surrounding a sclerotomy site 6 weeks after vitrectomy and retinal reattachment surgery. The conjunctival lesion was biopsied during a second operation to remove an epiretinal membrane causing macular pucker. Light and electron microscopic studies demonstrated melanin granules extracellularly and within macrophages.

CONJUNCTIVAL PIGMENTATION FOLLOWING PARS PLANA VITRECTOMY

A 32-year-old white man developed distinctive episcleral and conjunctival pigmentation surrounding a sclerotomy site 6 weeks after vitrectomy and retinal reattachment surgery. The conjunctival lesion was biopsied during a second operation to remove an epiretinal membrane causing macular pucker. Light and electron microscopic studies demonstrated melanin granules extracellularly and within macrophages.

Conjunctival Pigmentation Associated with Tetracycline Medication

A 26-year-old man had been treated for acne vulgaris with tetracycline and minocycline orally for 12 years. He developed dark brown to black pigmentary deposits in the palpebral conjunctiva bilaterally. These deposits resembled those seen in epinephrine pigmentation of the conjunctiva. Histologically the pigmented deposits were concretions in conjunctival cysts. Although they contained calcium, the concretions displayed the characteristic yellow autofluorescence of tetracycline under ultraviolet light. Presumably, tetracycline had formed extracellular chelation complexes with calcium, thus accounting for the pigmentation of the conjunctiva.

Toxicity of Dipivalyl Epinephrine

Fourteen patients with open-angle glaucoma applied one drop 0.1% dipivalyl epinephrine topically twice daily for three years. Four of the 14 patients developed severe blepharoconjunctivitis after 17 to 26 months of exposure to this epinephrine prodrug. Two of the four patients with dipivalyl epinephrine intolerance had a history of epinephrine intolerance. Three other patients had asymptomatic conjunctival hyperemia after 30 months of dipivalyl epinephrine exposure. No patients had conjunctival pigment deposits or cardiovascular side effects. The exfoliative cytology of two patients was characterized by karyomegaly of the conjunctival epithelial cells.

Conjunctival Pigmentation Due To Cosmetics

Conjunctival Pigmentation Due To Cosmetics