An Adolescent Whose “Bruises” Don’t Fade: What Is This Patchy Discoloration?

A 17-year-old presented with asymptomatic patchy skin discoloration on his back of 2 years’ duration. He practiced martial arts, and initially he had thought that the lesions were bruises related to that activity. However, the lesions did not fade away but rather had been slowly increasing in size. His past health was unremarkable, and he was not on any medication. There was no family history of a similar skin disorder or autoimmune disease.

Physical examination showed several brownish plaques on his back. The affected skin felt slightly thickened and indurated. Skin abnormalities did not appear on other parts of the body. The rest of the physical examination findings were unremarkable. In particular, the range of motion in all extremities was intact, and there was no joint contracture. No nail bed abnormality was observed.

What’s your diagnosis?

(Answer and discussion on next page)

Answer: Morphea (localized scleroderma)

Morphea, also known as localized scleroderma, is a distinctive chronic inflammatory disease that primarily affects the skin and underlying tissues and ultimately leads to hardening and thickening of the skin due to an increased density of collagen.¹ The disease shows a wide variation in its clinical presentation.

Epidemiology and Etiopathogenesis

The estimated incidence is approximately 0.4 to 2.7 cases per 100,000 population per year.^2,3 Although morphea affects all races, it is more prevalent in the white population.^1,4 The condition has a bimodal peak age of onset—namely, between 2 and 14 years of age, and between 40 and 50 years of age.^2,4 The female to male ratio is 2.4:1 to 4.2:1.^1-3

The pathogenesis likely is multifactorial, involving a complex interplay of genetic factors and environmental exposures, culminating in damage to the vascular endothelium. This leads to release of profibrotic cytokines and recruitment of inflammatory cells, with resultant decreased collagen destruction and increased collagen synthesis.⁵ The following factors have been associated with morphea: trauma, radiation, medications (bisoprolol, bromocriptine, bleomycin, d-penicillamine), infection (Borrelia, cytomegalovirus), personal or family history of autoimmune disease, and genetic predisposition.³ It has been shown that specific HLA class I and class II antigen alleles may confer susceptibility to and protection against morphea.⁶

Histopathology

Histologic findings in the early stages include perivascular and interstitial inflammatory cell infiltrate that is composed primarily of lymphocytes, histiocytes, and plasma cells in the dermis.^6-8 In the late stages, histologic findings include sparse dermal inflammation, thick bundles of collagen, and loss of dermal appendages.⁷ Perineural inflammation, a common and often underrecognized finding, is present in all stages, especially the early stage.⁷

Clinical Manifestations

Systemic symptoms such as malaise, fatigue, myalgia, and arthralgia occasionally are present.⁵ Some patients may experience pain or pruritus at the site of the disease prior to the development of a clinically evident lesion.⁶ The lesion typically begins as an erythematous or violaceous macule with a smooth surface and a yellowish white center. Over time, the lesion develops central sclerosis, which is ivory-white in color with surrounding erythema and induration.⁹ Eventually, the sclerotic area becomes softened and atrophic with varying degrees of postinflammatory hyperpigmentation and/or hypopigmentation.⁶ The affected area often is hairless and anhidrotic.

Based on clinical appearance, location, and degree of involvement, 5 main clinical subtypes have been recognized: circumscribed morphea (also known as plaque morphea), generalized morphea, linear morphea, pansclerotic morphea, and mixed morphea.^1,10

Circumscribed or plaque morphea accounts for approximately 60% of cases in adults and 25% of cases in children.¹¹ The condition typically presents with 3 or fewer oval or round, discrete, indurated plaques, confined to one anatomic area.^5,11 The lesions occur most frequently on the trunk or proximal extremities.¹¹ The superficial variant is most common, and the lesion is limited to the epidermis and dermis.^5,11 The deep variant (also known as morphea profunda) affects the dermis and subcutaneous tissue with variable penetration into the fascia and superficial muscle.¹¹ The overlying skin may be uninvolved, atrophic, or indurated.⁵ The skin may feel thickened, taut, and bound down.¹⁰ Other rare variants of circumscribed morphea include guttate morphea, nodular or keloidal morphea, and bullous morphea. Guttate morphea typically presents with multiple yellowish or white sclerotic lesions with a shiny surface.⁴ Nodular or keloidal morphea is characterized by the spontaneous appearance of keloidal nodules within areas of morphea. Bullous morphea is characterized by tense subepidermal bullae arising on morphea plaques.

Generalized morphea is defined as 4 or more plaques larger than 3 cm and involving 2 or more body sites.^6,10,11 The body sites are head/neck, right upper extremity, left upper extremity, right lower extremity, left lower extremity, anterior trunk, and posterior trunk.¹⁰ Generalized morphea accounts for approximately 7% to 9% of cases.⁵

Linear morphea is the most common subtype in children, affecting 50% to 60% of children with morphea.¹¹ The condition is characterized by a linear streak or band located predominantly on the extremities, face, and scalp.¹ The lesion is typically unilateral and most commonly located in a paramedian distribution, often following the lines of Blaschko.² En coup de sabre refers to a variant of linear morphea that affects the face and/or scalp and is so named because of the lesion’s resemblance to the consequence of the stroke of a sword.⁶ Progressive facial hemiatrophy (Parry-Romberg syndrome) is another variant, characterized by hemifacial atrophy of the skin and tissue below the forehead, with mild or absent involvement of the superficial skin.¹⁰

Pansclerotic morphea affects 1% to 2% of patients.^1,11 The condition is characterized by generalized full-thickness skin involvement of the trunk, extremities, face, and scalp, with sparing of the fingertips and toes.¹⁰

Mixed morphea is a condition in which a combination of 2 or more subtypes coexist. The condition accounts for approximately 15% of cases.^4,5,11

Diagnosis

The diagnosis is mainly clinical. The use of dermoscopy facilitates visualization of pigment network-like structures and fibrotic beams; the latter indicate sclerotic dermis.¹² These dermoscopic features are characteristic of morphea.¹² Consider a skin biopsy or dermatologist referral if the diagnosis is in doubt.

The main differential diagnoses are scleroderma and lichen sclerosus et atrophicus. Morphea can be differentiated from scleroderma by the absence of sclerodactyly, perioral involvement, Raynaud phenomenon, nail fold capillary changes (dilated vessels, hemorrhage, capillary loss), and internal organ involvement. Lichen sclerosus et atrophicus is an autoimmune, chronic, progressive, inflammatory dermatosis that presents with sclerosis, atrophy, and pruritus. The lesions typically begin as polygonal papules that coalesce into porcelain white plaques or patches. The affected area often has a parchment-like or cellophane paper-like wrinkled surface. Other differential diagnoses include interstitial granuloma annulare, lipodermatosclerosis, panniculitis, sarcoidosis, nummular eczema, discoid lupus erythematosus, mycosis fungoides, pretibial myxedema, necrobiosis lipoidica, chronic graft-versus-host disease, porphyria cutanea tarda, café au lait spots, and postinflammatory hyperpigmentation.^4,6,9

Laboratory and Imaging Studies

An elevated erythrocyte sedimentation rate and C-reactive protein level, peripheral eosinophilia, hypergammaglobulinemia, positive antinuclear antibody test results, and positive rheumatoid factor test results are observed more frequently in patients with morphea.^4,6 Laboratory tests, however, are not necessary for diagnosis. Testing for autoantibodies should be considered in patients with clinical signs suggestive of another autoimmune disease. In patients with lesions that may extend beyond the dermis, magnetic resonance imaging and ultrasonography can be used to assess the depth of lesion and involvement of subcutaneous structures.⁶

Complications

The disease may cause functional and cosmetic impairment and may impair the quality of life.¹³ Depression and anxiety are common in persons with morphea.² If the lesion crosses a joint, it may lead to restriction of joint movement and joint contractures.¹¹ Because linear morphea is commonly associated with deeper tissue fibrosis, orthopedic complications occur in 30% to 50% of patients with linear morphea.¹¹ Approximately 15% to 20% of patients with en coup de sabre and progressive facial hemiatrophy have neurologic complications (seizures, headache, neuralgia, peripheral neuropathy) and ophthalmologic complications (sclerosis of adnexal structures, exophthalmos, episcleritis, optic neuritis, anterior uveitis).¹ In general, patients with circumscribed morphea have less associated morbidity.⁵ Compared with circumscribed morphea, those with generalized morphea have more associated morbidity—in particular, autoimmune diseases and systemic symptoms.^6,11 Patients with pansclerotic morphea are at risk for muscle atrophy, significant joint contractures, restrictive respiratory disease, nonhealing ulcers, and squamous cell carcinoma.^5,11

Prognosis and Management

In general, lesions tend to run a waxing and waning course. Most lesions regress spontaneously over 3 to 5 years, usually with residual pigmentary and atrophic changes.² Affected patients may develop new morphea lesions over their lifetime.³

Treatment should be individualized, taking into consideration the following: clinical subtype; age of the patient; depth of involvement; location and body surface area involved; rate of progression; potential for functional impairment and cosmetic disfigurement; impact on the quality of life; cost; adverse effects and availability of the treatment options; response to previous treatment; preference of the patient; and experience and preference of the physician.⁶ For some patients with uncomplicated, limited circumscribed morphea, treatment might not be necessary apart from reassurance. Other patients with circumscribed morphea with limited and superficial involvement may benefit from treatments with topical tacrolimus, topical corticosteroids, intralesional corticosteroids, topical imiquimod, and topical calcipotriene.^6,14 Physiotherapy should be considered if the lesion involves a joint or if there is limitation of movement and/or joint contracture.^1,2 Systemic therapies should be considered for patients with subcutaneous involvement, rapidly progressive disease, involvement of a large body surface area, and involvement of functionally or cosmetically sensitive areas.¹⁴ Therapeutic options include systemic methotrexate (oral or subcutaneous), a systemic corticosteroid (oral prednisone or intravenous methylprednisolone), and phototherapy, alone or in combination.⁶ 

Alexander K. C. Leung, MD, is a clinical professor of pediatrics at the University of Calgary and a pediatric consultant at the Alberta Children’s Hospital in Calgary, Alberta, Canada.

Benjamin Barankin, MD, is a dermatologist and the medical director and founder of the Toronto Dermatology Centre in Toronto, Ontario, Canada.

References

1. Bielsa Marsol I. Update on the classification and treatment of localized scleroderma. Actas Dermosifiliogr. 2013;104(8):654-666.

2. Browning JC. Pediatric morphea. Dermatol Clin. 2013;31(2):229-237.

3. Fett N, Werth VP. Update on morphea: part I: epidemiology, clinical presentation, and pathogenesis. J Am Acad Dermatol. 2011;64(2):217-228.

4. Pope E, Laxer RM. Diagnosis and management of morphea and lichen sclerosus and atrophicus in children. Pediatr Clin North Am. 2014;61(2):309-319.

5. Fett N, Werth VP. Update on morphea: part II: outcome measures and treatment. J Am Acad Dermatol. 2011;64(2):231-242.

6. Jacobe H, Ahn C, Arnett FC, Reveille JD. Major histocompatibility complex class I and class II alleles may confer susceptibility to or protection against morphea: findings from the Morphea in Adults and Children cohort. Arthritis Rheumatol. 2014;66(11):3170-3177.

7. Dhaliwal CA, MacKenzie AI, Biswas A. Perineural inflammation in morphea (localized scleroderma): systematic characterization of a poorly recognized but potentially useful histopathological feature. J Cutan Pathol. 2014;41(1):28-35.

8. Vasquez R, Sendejo C, Jacobe H. Morphea and other localized forms of scleroderma. Curr Opin Rheumatol. 2012;24(6):685-693.

9. Nouri S, Jacobe H. Recent developments in diagnosis and assessment of morphea. Curr Rheumatol Rep. 2013;15(2):308.

10. Laxer RM, Zulian F. Localized scleroderma. Curr Opin Rheumatol. 2006;18(6):606-613.

11. Torok KS. Pediatric scleroderma: systemic or localized forms. Pediatr Clin North Am. 2012;59(2):381-405.

12 Shim WH, Jwa SW, Song M, et al. Diagnostic usefulness of dermoscopy in differentiating lichen sclerosis et atrophicus from morphea. J Am Acad Dermatol. 2012;66(4):690-691.

13. Das S, Bernstein I, Jacobe H. Correlates of self-reported quality of life in adults and children with morphea. J Am Acad Dermatol. 2014;70(5):904-910.

14. Zwischenberger BA, Jacobe HT. A systematic review of morphea treatments and therapeutic algorithm. J Am Acad Dermatol. 2011;65(5):925-941.