Undifferentiated connective tissue disease with various pigmentary patterns: a study of three patients

Journal of Drugs in Dermatology, Sept-Oct, 2004 by Iqbal A. Bukhari

Abstract

Undifferentiated connective tissue disease (UCTD) is a condition characterized by the presence of clinical manifestations suggestive of a connective tissue disease and at least one non-organ specific autoantibody. In this report I am presenting three types of cutaneous pigmentary changes are presented in three patients which were the clue to the diagnosis of UCTD.

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Introduction

Undifferentiated connective tissue disease (UCTD) refers to a cluster of systemic disorders characterized by clinical manifestations suggestive of a connective tissue disease and the presence of at least one non-organ specific autoantibody (1). Specifically pigmentary changes occur in systemic sclerosis (SS) can be one of three patterns: (1) generalized hyperpigmentation (2) focal hyper-or hypopigmentation in areas of sclerosis and (3) vitiligo-like macules with patches of perifollicular repigmention (2,3). Here I am reporting three of our patients who presented with pigmentary changes similar to those seen in SS and positive autoantibodies which lead us to the diagnosis of UCTD.

Case 1

A 40-year-old Saudi female presented with a one year history of localized bilateral symmetrical depigmented areas on both shins of her legs. She was diagnosed as a case of vitiligo and was started on topical steroid treatment but with no improvement. The patient was a known case of hypertension, secondary infertility, depression, and glaucoma since almost six years and was kept on oral hydrochlorothiazide 25 mg, Lozartan 50 mg, and Cipram 40 mg, all once daily. Her family history was negative for similar condition. Skin examination revealed the presence of circular patches of perifollicular pigmentation on a background of complete pigment loss, mimicking depigmenting vitiligo on both shin areas of about 5 X 13 cm in diameter with no signs of atrophy or telangiectasias (Figure 1). The patient had no history of joint pain or respiratory complaints. Her investigation revealed erythrocyte sedimentation rate of 45 mm/hr, c-reactive proteins positive, antinuclear antibodies titer of 1:1280 of centromere pattern, antidouble stranded DNA titer of 1:20, Rh factor titer of 64 IU/ml, positive anti-extractable nuclear antibody-RO type and abnormal urine analysis with hematuria and proteinuria. On the other hand the following investigations were negative or normal; complete blood count, fasting blood sugar, renal function tests, liver function tests and anti-extractable nuclear antibodies of SM. RNP, LA, Jo-1, Scl-70 types. Biopsy from the lesion of the skin revealed atrophic epidermis with focal absence of melanocytes at the basal layer proved by S100 protein and sclerosis of collagen at the papillary and reticular dermis with pigmentary incontinence. So the patient was diagnosed as a case undifferentiated connective tissue disease with vitiligo-like lesions as the only clinical sign of her disease. She was kept on Daivonex ointment twice a day and topical psoralen with UVA exposure three times per week for six months but unfortunately she did not respond instead the lesions remained stationary. Now the patient is regularly followed up since 5 years without any new signs of connective tissue disease.

[FIGURE 1 OMITTED]

Case 2

An 18-year-old Saudi male presented with two years history of scattered patches of hypopigmented areas on the upper and lower extremities (Figure 2). At the beginning he was clinically diagnosed as a case of vitiligo versus pityriasis alba and was started on topical steroid treatment but with no improvement. The patient was a known case of atopic dermatitis. His family history was negative for a similar condition. Skin examination revealed the presence of hypopigmented circular patches on the upper and lower extremities with no signs of atrophy or telangiectasias. The patient had no systemic complaints. His investigation revealed normal complete blood count and erythrocyte sedimentation rate with negative c-reactive proteins, antinuclear antibodies, antidouble stranded DNA, Rh factor and anti-extractable nuclear antibodies of SM, RNP, LA, Jo-1, Scl-70 types. However he had positive anti-extractable nuclear antibody-RO. Biopsy from one of the lesions on the legs revealed focal atrophy of the epidermis with focal reduction of the melanocytes at the basal layer proved by S-100 immunostaining. The dermis was markedly thickened and collagenous with absence of skin adnexae. So the patient was diagnosed as a case undifferentiated connective tissue disease with hypopigmented lesions. He was kept on Daivonex ointment and medium potency topical steroid twice a day for 12 months with no change. The patient is not currently on any treatment and is irregularly followed up in our clinic since four years without any new signs of connective tissue disease.

[FIGURE 2 OMITTED]

Case 3

A 45-year-old Saudi female presented with a three years history of patchy facial and neck hyperpigmentation. The patient was a known case of atopic dermatitis on emollients only. Her family history was negative for similar condition and she had no systemic complaints. Skin examination of the face and neck showed patches of hyperpigmented pin head size papules on the forehead, eyelids, chin, sides of the cheeks, and sides of the neck with no telangiectasias or hirsutism (Figure 3). Other sun exposed areas were normal. Wood's light showed dermal type of hyperpigmentation. Her connective tissue profile revealed positive anti-extractable nuclear antibody-RO type and negative anti-extractable nuclear antibodies of SM, RNP, LA, Jo-1, and Scl-70 types. Complete blood count, renal function tests, liver function tests, serum cortisol and thyroid function tests were normal. Biopsy from the lesion of the skin revealed atrophic epidermis with focal absence the basal layer and mild dermal sclerosis with pigmentary incontinence. There was no inflammatory infiltrate and direct immunofluorescent was negative. So our final diagnosis of this case was undifferentiated connective tissue disease with skin hyperpigmentation ruling out lichen planus pigmentosus and postinflammatory hyperpigmentation. The patient was kept on topical bleaching agent twice a day and now she is regularly followed up in the clinic with periodic systemic evaluation.