A Rare Tale of Two Colours: A Sporadic Case of Dyschromatosis Universalis Hereditaria

INTRODUCTION

Dyschromatosis universalis hereditaria (DUH) is an uncommon reticular pigmentary disorder characterised by symmetrical hyperpigmented and hypopigmented macules, often distributed over the trunk and extremities. First reported in Japan, DUH has since been recognised globally, including in India.^[1-3] While typically inherited in an autosomal dominant pattern, autosomal recessive and sporadic variants have also been described. The condition is usually benign, with limited treatment options, although recent genetic studies and laser therapies have shown potential.^[4]

CASE REPORT

A 14-year-old male presented with asymptomatic, well-defined reticular hypopigmented and hyperpigmented macules since the age of three years. Lesions began on the face and gradually spread to the limbs and trunk. No history of consanguinity, photosensitivity, pruritus, or systemic symptoms was noted. No history of prolonged drug intake and exposure to any chemicals was present. Family history was not significant, and birth history revealed a normal delivery with low birth weight. He was small-statured and underweight, with a height of 135 cm (<3^rd centile) and a weight of 23.5 kg (<3^rd centile for age).

Cutaneous examination revealed multiple symmetrical reticular hypopigmented and hyperpigmented macules and patches over cheeks, nose, chin, ears [Figure 1], eyelids, arms [Figure 2], dorsum of hands, thighs, legs, and feet, with relative sparing of the trunk [Figure 3]. These macules did not have any atrophy, scaling, or telangiectasia. Lateral superciliary madarosis was present bilaterally.

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Figure 1: Multiple hyperpigmented macules and patches with interspersed hypopigmentation over face and ears.

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Figure 2: Multiple dyschromic macules and patches with scaling over extremities.

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Figure 3: Multiple dyschromic macules and patches over trunk and buttocks.

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The gingival, labial, and buccal mucosa showed hyperpigmentation [Figure 4]. Palms and soles were completely spared. Nails, teeth, and hair were normal. No abnormality was detected on neurological and ophthalmological examination.

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Figure 4: Hyperpigmenation over buccal mucosa.

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Routine investigations, including complete blood counts, liver function tests, renal function tests, and urinalysis, were within normal limits.

Various sections and deeper cuts of the H&E-stained slide were studied. The Fontana-Masson stain was not used due to unavailability.

Hyperpigmented macule (over left leg) showed hyperkeratosis with increased basal pigmentation and melanophages in dermis.

Hypopigmented macule (over left forearm) showed orthokeratosis, spongiosis, reduced basal pigmentation, and superficial perivascular lymphocytes [Figure 5].

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Figure 5: (a) Skin biopsy from hyperpigmented macule showing hyperkeratosis with orthokeratosis, hypermelanosis of the basal and spinous layers with melanophages in the superficial dermis (H&E, 40x), (b) Skin biopsy from hypopigmented macule showing spongiosis with orthokeratosis. Pigmentation in the stratum spinosum not seen (H&E, 40x), (H&E: Haematoxylin and eosin.)

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These findings confirmed DUH. Differential diagnoses such as dyschromatosis symmetrica hereditaria (DSH), vitiligo, and xeroderma pigmentosum were ruled out based on distribution, mucosal involvement, and histopathology. The patient was counselled and advised regarding sun protection and emollients. No active treatment was initiated.

DISCUSSION

DUH is a rare genodermatosis presenting in early childhood with mottled hyper- and hypopigmented macules, typically inherited in autosomal dominant or recessive patterns.^[1,2,5] Our case represents a rarely described sporadic form with unusual mucosal pigmentation and lateral madarosis.^[6] The absence of systemic findings and photosensitivity, along with normal neurological and ophthalmological evaluation, helped rule out other pigmentary disorders such as xeroderma pigmentosum and Aicardi-Goutières syndrome.

Histopathology showed typical features, including basal hypermelanosis and dermal melanophages.^[3,6,7]

Mutations in ATP binding cassette subfamily B member 6 (ABCB6) and sterile alpha motif and Src homology (SH3) domain-containing protein 1 (SASH1) contribute to its genetic basis, highlighting heterogeneity.^[4,8] Although genetic testing was not performed, clinical and histological findings were consistent with the diagnosis of DUH. Our patient showed generalised involvement and mucosal changes, further supporting the diagnosis. DUH must be differentiated from amyloidosis cutis dyschromica and DSH, which has an acral pattern and adenosine deaminase acting on RNA 1 (ADAR1) mutation.^[9]

Management remains supportive. Cosmetic counselling and photoprotection are key. Picosecond laser therapy has shown promise in selected genetic variants,^[4] though it is not widely accessible.

CONCLUSION

This case highlights a sporadic occurrence of DUH in an adolescent male, emphasising the need for awareness of its clinical and histopathological features for accurate diagnosis. Early recognition can prevent unnecessary interventions and provide reassurance to patients and families.