Pigmented Xerodermoid-Report of Three Cases

Case Report

Pigmented xerodermoid – report of three cases

Jayanta Kumar Das, Asok Kumar Gangopadhyay Department of Dermatology, Vivekananda Institute of Medical Sciences and Ramakrishna Mission Seva Pratisthan Hospital and 99, Sarat Bose Road, Kolkata - 700 026, India.

Address for correspondence: Dr. Jayanta Kumar Das, Flat BE 3, 193 Andul Road, Howrah - 711109, W.B., India. E-mail: [email protected]

ABSTRACT

Pigmented xerodermoid, a rare genodermatosis, presents with clinical features and pathology similar to xeroderma pigmentosum, but at a later age. DNA repair replication is normal, but there is total depression of DNA synthesis after exposure to UV radiation. Two siblings in their teens and a man in his thirties with features of pigmented xerodermoid, e.g. photophobia, freckle-like lesions, keratoses, dryness of skin, and hypo- and hyper-pigmentation, are described. Although classically the onset of pigmented xerodermoid is said to be delayed till third to fourth decade of life, it seems the disease may appear earlier in the tropics. Early diagnosis and management could be life-saving.

KEY WORDS: Xeroderma pigmentosum.

INTRODUCTION CASE REPORTS

Xeroderma pigmentosum (XP) is a rare autosomal Case 1 recessive disease in which the patient typically lacks A 16-year-old boy coming from a poor rural household the normal capacity to repair UV radiation-damage to presented with the complaint of gradually increasing DNA.[1] XP is a genetically and clinically heterogeneous number of ‘freckles’ on the face for about 5 years. disease. Genetically, there are at least eight subtypes Initially, the lesions were on the forehead and nose; designated complementation groups A-G, and XP then they gradually spread to the cheeks, neck, variant (pigmented xerodermoid). Pigmented forearms, trunk, and legs. There was also history of xerodermoid, reported in the early seventies,[2,3] is aptly photophobia and burning sensation of the skin on sun- described as xeroderma pigmentosum of late onset.[1] exposure. There was no history of consanguinity in the In pigmented xerodermoid, the onset is classically family. The younger sister of the patient (case 2) had delayed till the third or fourth decade of life; and repair similar but milder lesions. The parents as well as the replication is normal, but there is depression of DNA other brother (aged 18 years) did not have similar skin synthesis after exposure to UV radiation.[1] Three cases lesions. of pigmented xerodermoid are presented here for the rarity of this disease, especially in the Indian literature.[4] On examination, he was found to have numerous

How to cite this article: Das JK, Gangopadhyay AK. Pigmented xerodermoid – report of three cases. Indian J Dermatol Venereol Leprol 2005;71:41-3. Received: June, 2004. Accepted: August, 2004. Source of Support: Nil.

41 Indian J Dermatol Venereol Leprol January-February 2005 Vol 71 Issue 1 Das JK, et al: Pigmented xerodermoid localized small (1-4 mm) hyperpigmented macules on neck, and forearms; and there was a diffuse brown-black the face as well as on all sun-exposed areas, e.g. pigmentation on the exposed parts for about the same extensors of the upper extremities, trunk (more on the duration. There was history of photophobia and upper part), and legs (Figure 1). There were burning sensation of the skin on sun-exposure. hypopigmented macules interspersed with the Ophthalmological examination showed conjunctival hyperpigmented macules. A few of the hyperpigmented redness, but was otherwise normal. General lesions were hyperkeratotic and looked clinically like examination including neurological examination was seborrheic keratoses. Additionally, there was dryness normal. Histopathological examination of a of the skin and a diffuse brown-black pigmentation on hyperpigmented macule showed elongation of rete the exposed parts for about the same duration. All the ridges, increased melanin in melanocytes and basal skin changes were more marked on areas that were cells, and melanophages in the upper dermis. exposed to sunlight. Ophthalmological examination was normal except conjunctival redness in both the Case 3 eyes. General examination including neurological A 33 year-old-male presented with the complaints of examination was normal. Histopathological freckle-like lesions and spotty hypopigmentation over examination of a hyperkeratotic lesion resembling the face and sun-exposed areas of the body and seborrheic keratosis showed acanthosis, hyperkeratosis generalized dryness of the skin developing for the past and papillomatosis, and that of one hyperpigmented 12 years. There was also history of photophobia and macule showed elongation of rete ridges, increased burning sensation of the skin on sun-exposure. Initially, melanin in melanocytes and basal cells, and the skin lesions were on the forehead and nose; then melanophages in the upper dermis. they spread to the cheeks, neck, forearms, trunk, and legs (Figure 2). There were a few hyperkeratotic Case 2 hyperpigmented papules that looked clinically like A 13-year-old-girl, sister of case 1, came with the seborrheic keratoses. There was no history of complaint of ‘freckles’ on the face for about 2 years. consanguinity in the family. There was no history of similar The lesions were mostly on the forehead and nose; only skin lesions in the family, including the parents and the a few pigmented macules were found on the cheeks, only sister. Ophthalmological examination showed

Figure 1: Hyperpigmented macules with spotty hypopigmentation Figure 2: Hyper and hypopigmented macules with keratoses over face and chest in Case 1 over face, trunk and arms in Case 3

Indian J Dermatol Venereol Leprol January-February 2005 Vol 71 Issue 1 42 Das JK, et al: Pigmented xerodermoid conjunctival redness, dryness, and pigmentation. General appearing from the second decade, rather than the third examination including neurological examination was normal. or the fourth, of life, this might be attributed to the Histopathological examination of a hyperpigmented macule fact that they belonged to a poor rural peasant family, showed features similar to case 2. and that entailed a lot of recreational as well as occupational sun-exposure from early life. The clinical In all the three cases, palms, soles, hair, nails, and oral presentation of these siblings was very similar, the and genital mucosae were normal. Haemogram, routine younger sister having milder disease that could be urine analysis, and blood biochemistry were within accounted for by the 3-year age difference and the fact normal limits. There was no history of arsenic that girls generally cover a greater part of their trunk. contamination in the drinking water of the patients’ The third case was classical in having symptoms in the home-towns, and no arsenic was found in the hair, nail, third decade. None of them had any actinic keratoses, and urine of the patients, or in the water they used to or malignancies, or neurological manifestations, but drink. The patients were treated with strict avoidance long-term follow up will be needed. Genetic studies to of direct sunlight, sunscreens and glycolic acid topically, pinpoint the exact nature of defect in our cases could 6% on the face and 12% on the body. not be done due to lack of facility.

DISCUSSION REFERENCES

In classical XP, the median age of onset of the cutaneous 1. Harper JL. Genetics and genodermatoses. In: Champion RDH, Burton JL, Burn DA, Breathnach SM, eds. Rook/ Wilkinson/ [5] symptoms is between 1 and 2 years. The sun-exposed Ebling Textbook of Dermatology. Vol 1, 6th Ed. Oxford: skin becomes dry, pigmented and parchment-like, with Blackwell Science Ltd; 1998, p.407-12. freckle-like hyperpigmented macules. Premalignant 2. Jung EG. Differentiation of two forms of xeroderma actinic keratoses develop at an early age. Patients with pigmentosum. Dermatologica 1971;142:269-70. 3. Jung EG, Bantle K. Xeroderma pigmentosum and pigmented XP under 20 years of age have greater than 1000-fold xerodermoid. Birth Defects Orig Artic Ser 1971;7:125-8. increased risk of cutaneous basal cell or squamous cell 4. Bhat MR, Cherian SM, Shetty JN. Pigmented xerodermoid. carcinoma or malignant melanoma.[5] Indian J Dermatol Venereol Leprol 2002;68:103. 5. Kraemer KH. Heritable diseases with increased sensitivity to Our cases fit into the classical description of pigmented cellular injury. In: Freedberg IM, Eisen AZ, Wolff K, Austen FK, Goldsmith LA, Katz SI, editors. Fitzpatrick’s Dermatology in xerodermoid or ‘xeroderma pigmentosum of late General Medicine. 6th Ed. New York: McGraw-Hill; 2003, p. onset’.[1] Although the first two cases had symptoms 481-505.

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