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Year : 2022  |  Volume : 2  |  Issue : 1  |  Page : 36-38

A rare association of dyschromatosis universalis hereditaria and bilateral corneal ulcer

1 Senior Resident, PMCH, Patna, Bihar, India
2 Professor and Head – Opthalmology, RIO, IGIMS, Patna, Bihar, India
3 2nd Year Post Graduate – Ophthalmology, PMCH, Patna, Bihar, India

Date of Submission21-Mar-2021
Date of Acceptance29-Jun-2021
Date of Web Publication07-Jan-2022

Correspondence Address:
Dr. Mamta Singh
Senior Resident – Ophthalmology. Patna Medical College and Hospital. Ashok Rajpath, Patna, Bihar - 800 004
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_656_21

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Dyschromatosis universalis hereditaria (DUH) is a rare entity in the Indian subcontinent presenting with generalized pigmented macule all over the body. We report a case of a 13-year-old patient of DUH with bilateral gradual progressive diminution of vision and increasing white opacity for the past 5 years. The patient presented with a bilateral central corneal ulcer. The microbiological report of the corneal scraping sample was negative. The ulcer responded to topical gatifloxacin eye drop, and the epithelial defect healed with excessive brown pigmentation in both eyes. Whether this bilateral keratopathy and healing with pigmentation are a part of the spectrum of DUH or not needs to be evaluated further.

Keywords: Bilateral corneal ulcer, corneal opacity, DUH, pigmentation

How to cite this article:
Singh M, Sinha BP, Kumar B. A rare association of dyschromatosis universalis hereditaria and bilateral corneal ulcer. Indian J Ophthalmol Case Rep 2022;2:36-8

How to cite this URL:
Singh M, Sinha BP, Kumar B. A rare association of dyschromatosis universalis hereditaria and bilateral corneal ulcer. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 Aug 14];2:36-8. Available from: https://www.ijoreports.in/text.asp?2022/2/1/36/334967

Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by reticulate hyper- and hypopigmentary patterns. The majority of cases show autosomal dominant inheritance patterns except for a few cases of autosomal recessive inheritance. The disorder has been primarily reported from Japan, although sporadic case reports are available from India and other parts of the world. The reported ocular association of DUH is photosensitivity, nystagmus, ocular albinism, foveal hypoplasia, and keratopathy. To the best of our search, only one case report is available in the literature on the association of DUH and bilateral keratopathy. We report a case of DUH presenting as a bilateral corneal ulcer that healed with pigmentation. The case report has been prepared after taking informed and written consent from the patient. The identity of the patient has been hidden as per the guidelines given.

  Case Report Top

A 13-year-old boy presented with complaints of pain, severe photophobia, redness, and watery discharge from both eyes for the past 15 days. The patient gave a history of gradual progressive diminution of vision and increasing white opacity in both his eyes, in the past 5 years. It was associated with occasional redness and itching that got relieved on treatment with some topical drops. The previous clinical records available with the patient showed irregular treatment for bilateral corneal opacity and dry eye. He was treated elsewhere with a short course of topical corticosteroid eye drop, 0.1% cyclosporine eye drop, and lubricating eye drop (0.1% hyaluronic acid).

The patient was the second male child born to nonconsanguineous parents and had normal milestones of development. Physical examination of the patient revealed generalized, symmetrical, hypo- and hyperpigmented macule all over his body, including his face [Figure 1]. As per the clinical history, these lesions started developing around 5 years of age and progressed gradually. There was no history of exposure to any chemical or drug reaction, and none of the family members had a similar problem. Nails of fingers and toes showed pitting, thinning, and onychodystrophic changes [Figure 1].
Figure 1: Skin rashes and nail changes of dyschromatosis universalis hereditaria

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Visual acuity at the time of presentation was hand movement in both eyes with an accurate perception of rays in all four quadrants. Ocular examination of both eyes showed macular rashes over lids, conjunctival congestion, peripheral corneal vascularization, and epithelial defect of 5 mm (vertical) ×4 mm (horizontal) in the right eye and about 5 mm (vertical) ×9 mm (horizontal) in the left eye [Figure 2]. The extent of the ulcer was confirmed with fluorescein staining. There was a surrounding area of infiltration, edema, and opacity in both eyes. Corneal sensation tested by cotton wisp test was decreased in both eyes. There was no evidence of lagophthalmos and exposure keratitis. Posterior segment assessment was done with ultrasonography B-scan and was normal on evaluation.
Figure 2: Corneal ulcer with opacity and vascularization

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The important differential diagnoses in consideration were allergic conjunctivitis, vitamin A deficiency disorder, viral keratitis, xeroderma pigmentosa, and porphyria.

Corneal scraping sample was collected for microbiological testing, and primary treatment with a topical broad-spectrum antibiotic (0.5% gatifloxacin eye drop), cycloplegic drop (1% atropine eye drop), and lubrication drop (0.1% hyaluronic acid eye drop) was started. The microbiological report did not reveal any pathogen, but the ulcer responded to the treatment clinically. Repeat microbiological testing at 1 week was also negative. After 3 weeks of treatment, the epithelial defect healed, which was confirmed by negative fluorescein staining. Excessive deposition of brown pigments was noticed in both eyes after healing of epithelial defect [Figure 3].
Figure 3: Healed epithelial defect with pigmentation

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For systemic evaluation, the patient was referred to the department of pediatrics and dermatology. The clinical suspicion of DUH was confirmed by skin biopsy keeping a differential diagnosis of Addison's disease and xeroderma pigmentosa in mind. The histopathology showed an increased number of melanocytes in the basal layer with an increased amount of melanin in the lower epidermis [Figure 4]. Other systemic evaluation (electrocardiogram, chest X-ray, and ultrasound abdomen) was found to be normal.
Figure 4: Histopathology photograph of skin biopsy sample showing increased number of melanocytes in the basal layer with an increased amount of melanin in the lower epidermis

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  Discussion Top

DUH, a rare genodermatosis, was first described by Ichikawa and Hiraga in 1933.[1] The disease has been primarily reported from Japan, except for few sporadic case reports from India, Europe, China, South America, and Saudi Arabia.[2]

It is postulated to be a disorder of melanosome production and distribution in epidermal melanin units rather than a disorder of melanocyte number.[3] Recently, studies have reported ABCB6 as the first pathogenic gene associated with DUH.[4] Typical skin lesions of DUH is characterized by a symmetrical reticulate pattern of hyper- and hypopigmented macular rashes over the body, often with the onset during the first decade of life. Although DUH cases with rashes sparing palm and sole have also been reported, in our case it was involving the entire trunk, palm, sole, and face.[2],[5]

Rashes over the face have been reported in the literature to be present in approximately 50% of patients,[6] and nail involvement in the form of onychodystrophic changes has also been reported.[7]

A single case report has been published on the association of DUH with glaucoma and cataract, but these two could be age-related pathology in the reported patient, who was 50 years of age.[8],[9]

Other reported ocular associations of DUH are horizontal nystagmus, poor visual acuity, foveal hypoplasia (fundus fluorescein angiography showing absence of capillary free zone), and albino-like fundi.[10],[11]

To the best of our literature search, there has been only a single report on the association of keratopathy and DUH across the world. Bilateral corneal decompensation was reported in a patient of DUH and was treated with penetrating keratoplasty.[12]

  Conclusion Top

This case is unique because of the rarity of primary pathology itself and its corneal associations. DUH presenting with bilateral keratopathy comprising corneal opacity, peripheral vascularization, and concomitant corneal ulcer that healed with pigmentation has not been reported in the literature. Whether the pigmented healing pattern is a part of the spectrum of DUH-generalized pigmentation or not needs to be researched.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Ichikawa T, Higara Y. About a pigmentary anomaly unprecedented. Jpn J Dermatol 1933;34:360-4.  Back to cited text no. 1
Bhat YJ, Latief I, Hassan I. Dyschromatosis universalis hereditaria in three siblings. Pigment Int 2016;3:108-10.  Back to cited text no. 2
  [Full text]  
Kim NS, Im S, Kim SC. Dyschromatosis universalis hereditaria: An electron microscopic examination. J Dermatol 1997;24:161-4.  Back to cited text no. 3
Zhang C, Li D, Zhang J, Chen X, Huang M, Archacki S, et al. Mutations in ABCB6 cause dyschromatosis universalis hereditaria. J Invest Dermatol 2013;133:2221-8.  Back to cited text no. 4
Sasidharanpillai S, Shyam A, Manakkad SP, Abdul Latheef EN, Rahima S, Paul N. Sporadic case of dyschromatosis universalis hereditaria showing moderate response to narrow-band ultraviolet-B. Indian J Paediatr Dermatol 2019;20:172-3.  Back to cited text no. 5
  [Full text]  
Rojhirunsakool S, Vachiramon V. Dyschromatosis universalis hereditaria with renal failure. Case Rep Dermatol 2015;7:51-5.  Back to cited text no. 6
Naik CL, Singh G, Rajashekar TS, Okade R. Dyschromatosis universalis hereditaria. Indian J Dermatol 2009;54:74-5.  Back to cited text no. 7
  [Full text]  
Al Hawsawi K, Al Aboud K, Ramesh V, Al Aboud D. Dyschromatosis universalis hereditaria: Report of a case and review of the literature. Pediatr Dermatol 2002;19:523-6.  Back to cited text no. 8
Sait MA, Garg BR. Dyschromatosis universalis hereditaria. Indian J Dermatol 1985;51:277-9.  Back to cited text no. 9
Yang JH, Wong CK. Dyschromatosis universalis with X-linked ocular albinism. Clin Exp Dermatol 1991;16:436-40.  Back to cited text no. 10
Takkar B, Priyanka, Asati DP, Rupla R, Shrivastava V. A rare case of foveal hypoplasia with dyschromatosis universalis. Ophthalmic Surg Lasers Imaging Retina 2019;50:192-5.  Back to cited text no. 11
Gupta V, Sharma K, Chaudhary KP. Dyschromatosis universalis hereditaria with bilateral keratopathy A rare co existence. IP Int J Ocul Oncol Oculoplasty 2017;3:326 8.  Back to cited text no. 12


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]


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