Dermatology Online Journal

Familial linear scleroderma (en coup de sabre) responsive to antimalarials and narrowband ultraviolet B therapy.
Isaac Brownell MD PhD, Nicholas A Soter MD, Andrew G Franks Jr MD
Dermatology Online Journal 13 (1): 11

New York Univeristy Department of Dermatology

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Abstract

A 32-year-old woman and her 35-year-old sister presented with plaques of scleroderma en coup de sabre. The younger sister's disease was more severe and preceded the older sister's by 10 years. This is the second reported case of familial en coup de sabre, and the first case of horizontal transmission. Treatment of the younger sister with antimalarials and narrow-band ultraviolet B (NB-UVB) phototherapy slowed disease progression and reversed hair loss. The observation that NB-UVB was effective in this case of linear scleroderma suggests that it may be indicated as a therapy for cutaneous scleroderma.

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Clinical synopsis

A 32-year-old woman presented in March 2002 with a 7-year history of a progressive, dark, indented line on her forehead that extended into her frontal scalp. She denied headaches, seizures, and visual changes. There was no history of Lyme disease. The patient was otherwise healthy and had no family history of connective-tissue or autoimmune diseases.

The patient was treated for 1 month with oral doxycycline with no improvement. Therapy was changed to hydroxychloroquine 200 mg daily with a decrease in erythema and slowed encroachment of the orbital rim. In February 2003 oral therapy was stopped, and the patient started a 24-week course of narrowband ultraviolet B (NB-UVB) phototherapy three times per week. Narrowband ultraviolet B effectively arrested progression of the disease prior to any eyelid or medial canthus involvement. The patient's disease remained stable off NB-UVB for a year. She was taking only vitamin E 400 IU twice daily. In July 2004 the patient noted progression of her condition with the onset of alopecia of the affected scalp. She was started on a regimen of colchicine 0.6 mg and chloroquine 250 mg daily in addition to starting NB-UVB three times per week. Initial hair loss within the depressed groove and involvement of the medial right eyebrow slowly stabilized. By December 2004 hair growth was detectable, and oral colchicine was stopped. In May 2005 NB-UVB frequency was decreased to twice a week. The patient continues to show improvement in hair regrowth with NB-UVB twice a week and daily chloroquine.

Figure 1	Figure 2

Figure 3

The patient's 35-year-old sister developed the same condition in September 2004. She was otherwise healthy with no history of Lyme disease when a slightly depressed, hyperpigmented line developed on her forehead. The plaque's location was analogous to that of her sister's; however, it was less pronounced and was restricted to the forehead. Her condition has remained stable without treatment. The sisters grew up together in the same household in Queens, New York. Two additional female siblings have no skin disease.

A linear, hyperpigmented, atrophic, furrow-like plaque was present over the right paramedian forehead and extended from within the frontal scalp to below the supraorbital ridge approaching the medial canthus of the right eye. Scarring alopecia with hair regrowth was seen in the scalp plaque. Hair density was reduced in the affected medial right eyebrow. Ophthalmologic examination was normal.

The patient's sister suffered from a slightly depressed, hyperpigmented, linear plaque on the right paramedian forehead extending from the hairline to the eyebrow.

A complete blood count, comprehensive metabolic panel, hepatic function panel, lipid profile, erythrocyte sedimentation rate, and urinalysis were normal. Anti nuclear antibody and rheumatoid factor were negative. Lyme western blot was negative for IgM and IgG.

Comment

Scleroderma (en coup de sabre) is an uncommon linear form of localized scleroderma that occurs on the scalp and face. Onset is usually during the first two decades of life. In addition to a morphea-like sclerosis of the skin, there can be atrophy or calcification of underlying tissues. Unlike the gradual spontaneous remissions seen in morphea, linear scleroderma tends to have a longer and occasionally progressive course [1, 2]. Some authors suggest scleroderma en coup de sabre occurs along Blaschko lines [3, 4], which suggests that it may arise in a mosaic clone of susceptible cells.

The etiology of localized scleroderma is unknown. Environmental exposures, immune alterations, microchimerism with autoimmunity, trauma, and Borrelia infection have been suggested as contributing to the pathogenesis of the disease [1, 2, 5, 6]. The vast majority of cases are sporadic. However, a small number of familial localized scleroderma cases have been reported [5, 6, 7, 8, 9]. Epidemiologic, genetic, familial, and twin studies suggest that scleroderma is not a heritable disease but may arise in genetically susceptible individuals when exposed to environmental triggers [5, 6]. No clear HLA associations with localized scleroderma have been established [5].

A low incidence rate combined with the lack of a clear genetic trigger may be why detecting scleroderma en coup de sabre in more than one family member is exceedingly rare. En coup de sabre has been described in a girl and her grandfather [9]. To our knowledge our patient is the only other reported case of familial en coup de sabre and the first case of horizontal transmission. It is unclear if our case represents a common household exposure, a genetic predisposition for disease, or both.

Localized scleroderma has been treated with a number of therapies that remain to be proved by controlled trials. These include glucocorticoids, antimalarials, etretinate, penicillin, D-penicillamine, phenytoin, vitamin E, griseofulvin, retinoids, interferon, calcitriol, and methotrexate [10, 11]. Surgical excision of stable plaques is also an option. Ultraviolet A (UVA) phototherapy with and without psoralens has been shown effective in treating localized scleroderma including cases of en coup de sabre [10, 11, 12]. Despite the numerous options, lineal scleroderma remains a therapeutic challenge with prevention of disease progression and associated morbidity a primary goal.

In recent years, the efficacy of narrow-band (NB-UVB) phototherapy in treating inflammatory and T-cell mediated dermatoses such as psoriasis, atopic dermatitis, vitiligo, and mycosis fungoides has become apparent. Narrow-band UVB may also be effective in treating cutaneous graft-versus-host disease [13], which is a condition that shares common features with scleroderma. The success of NB-UVB in treating skin conditions previously controlled with UVA phototherapy makes it a good candidate therapy for cutaneous scleroderma. Our patient responded to NB-UVB phototherapy. However, the natural remitting and recurring course of linear scleroderma makes it difficult to assess the success of therapies in individual case reports. Nonetheless, NB-UVB appears to hold promise as a treatment for localized scleroderma and should be evaluated in larger case series and controlled trials.

References

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