Keywords

A 10-year-old girl presented with a 3-year history of asymptomatic skin changes on the right side of her face, together with partial loss of her right eyebrow. There had been no further progression in the past 1 year. Her vision was unaffected and she denied any neurological symptoms. On examination, she had facial asymmetry with elevation of the right upper eyelid, and a poorly developed right nasal rim. There was an atrophic, sclerotic, shiny brown plaque extending from the right parietal scalp, through the right forehead, to the right nasal bridge (Fig. 17.1). There was no atrophy of the right side of her face and there were no similar lesions elsewhere. Anti-nuclear antibody (ANA) and anti-extractable nuclear antigen (ENA) were negative. ESR was normal at 13 mm/h. The patient declined a skin biopsy.

Fig. 17.1
figure 1

Frontal (a) and side (b) views of an atrophic, sclerotic, brown plaque extending from the right parietal scalp, through the right forehead, to the right nasal bridge in a 10-year-old girl

Full size image

Q1. What is the most likely diagnosis?

  1. A.

    En coup de sabre

  2. B.

    Lichen sclerosus et atrophicus

  3. C.

    Lupus panniculitis

  4. D.

    Lipodystrophy

Answer: The correct answer is A.

Scleroderma may occur as a localized or a systemic disease. Localized scleroderma (LSc), also known as morphea, is a fibrosing condition characterized by thickening and hardening of the skin due to overproduction of collagen. Linear morphea is the most common subtype of LSc in children, and patients present with sclerotic linear or curvilinear plaques with variable associated localized atrophy [1]. When the lesion involves the face or scalp, it is referred to as “en coup de sabre” (ECDS), as it resembles the strike of a sword. The skin lesions of ECDS undergo an initial inflammatory stage, where patients present with erythematous to violaceous, shiny and indurated plaques. Once the active phase resolves, the skin lesion turns into a nearly complete white sclerotic plaque often with subsequent post-inflammatory hyperpigmentation. Excessive deposition of collagen destroys hair follicles and adnexal structures, resulting in a hairless, anhidrotic plaque. ECDS is a pediatric disease, with a median age of onset of 10 years old [2]. Some authors have postulated that ECDS lie on the same disease spectrum as Parry-Romberg syndrome (PRS), which is a form of progressive hemifacial atrophy that is considered a more severe variant. In PRS, the disease process extends more deeply, often involving the underlying muscle and bone. In contrast to ECDS, the mid- to lower face is frequently affected in PRS [3]. Remission typically occurs after 3–5 years in ECDS, but the disease recurs in about 7% of patients [4].

Q2. What is the most common neurologic symptom associated with this condition?

  1. A.

    Behavioral changes

  2. B.

    Movement disorders

  3. C.

    Intellectual deficit

  4. D.

    Epilepsy

Answer: The correct answer is D.

Central nervous system involvement in ECDS is not rare, and may affect up to 18% of patients [5]. Neurologic symptoms are usually preceded by the cutaneous manifestations, but may also occur concurrently with or after the onset of the skin lesions [6]. Associated neurological manifestations are varied and include seizures, migraines, focal neurological deficits, behavioral changes, movement disorders and progressive intellectual deterioration. Epilepsy, particularly complex partial seizures, remains the most common neurologic symptom associated with ECDS [7]. Classic neuroimaging findings, which are typically found ipsilateral to the skin lesions, include brain parenchyma atrophy, white matter lesions, vascular malformations and calcifications. Calcifications may occur in the basal ganglia, thalami, dentate nuclei and also in the subcortical white matter [8]. Asymptomatic patients are rarely found to have abnormal neuroimaging studies [9].

Q3. If the patient presents with right eye pain, redness and increased sensitivity to light, what is the mostly likely cause of her symptoms?

  1. A.

    Conjunctivitis

  2. B.

    Optic neuritis

  3. C.

    Anterior uveitis

  4. D.

    Posterior uveitis

Answer: The correct answer is C.

Ocular abnormalities are present in approximately 3% of pediatric patients with LSc, and are more prevalent in those with ECDS [10]. Adnexal abnormalities involving the eyelid and/or eyelashes are the most frequent findings. Anterior uveitis can occur, and patients present with a painful red eye. This condition may be complicated by secondary glaucoma [10]. Ocular symptoms should be actively sought for at every clinical review, and if present, referral to an ophthalmologist is mandatory.

Q4. Assuming the patient agreed to skin biopsy, what would you expect to find in her biopsy?

  1. A.

    Atrophic epidermis, interface dermatitis and a thickened dermis composed of abundant collagen bundles

  2. B.

    Atrophic epidermis, homogenized and edematous collagen in the superficial dermis with a band-like lichenoid lymphocytic infiltrate in the mid-dermis

  3. C.

    Lobular panniculitis, with a lymphoplasmacytic infiltrate and formation of lymphoid follicles

  4. D.

    Fat necrosis with foamy lipophages, small lipocytes, and a mixed inflammatory infiltrate consisting predominantly of plasma cells and lymphocytes

Answer: The correct answer is A.

Histological features of LSc vary according to the stage and activity of the lesion. Early in the disease, inflammatory lesions are characterized by tissue edema, thickened collaged bundles and a dense interstitial and perivascular inflammatory infiltrate composed primarily of lymphocytes. Biopsies of burnt-out lesions demonstrate a squared-off appearance, with hyalinization of the dermis and thickened collagen bundles. There is also atrophy of the eccrine and pilosebaceus glands, and loss of intradermal fat [11]. Interestingly, the presence of interface dermatitis is a characteristic feature of ECDS, regardless of disease activity [12]. Direct immunofluorescence studies are usually negative.

Q5. Which phototherapy modality is most effective in treatment of the active phase of LSc ?

  1. A.

    Psolaren + ultraviolet A (PUVA)

  2. B.

    Broadband ultraviolet B (BB-UVB)

  3. C.

    Narrowband ultraviolet B (NB-UVB)

  4. D.

    Ultraviolet A (UVA-1)

Answer: The correct answer is D.

Various phototherapeutic modalities including, PUVA, NB-UVB, BB-UVA and UVA-1, have been used for the treatment of sclerotic skin diseases, which include ECDS [13,14,15]. Amongst them, UVA-1 phototherapy has been found to be the most efficacious. This is a specific form of UVA phototherapy that comprises UVA radiation between 340 and 400 nm. The mechanisms through which UVA-1 irradiation improves sclerotic skin disease remain poorly understood. One theory postulates that UVA-1 decreases cellular responsiveness to TGF-beta-1, which is a fibrogenic cytokine [16]. The optimum dose for UVA-1 phototherapy has yet to be determined, but low and medium-dose irradiation were found to be equally efficacious in a randomized trial of 64 patients [13]. Treatments are usually administered three to five times per week [13, 15, 16].

Q6. Which oral immunosuppressive agent is most effective in treatment of the active phase of LSc?

  1. A.

    Cyclosporine

  2. B.

    Mycophenolate mofetil

  3. C.

    Methotrexate

  4. D.

    Azathioprine

Answer: The correct answer is C.

Due to the significant risk of disfigurement and its associated psychosocial consequences, ECDS usually requires more aggressive therapy. Early intervention with immunosuppressive agents during the active, inflammatory phase of the disease is most beneficial. Use of methotrexate alone or with corticosteroids administered either orally or intravenously have been found to be efficacious in the treatment of juvenile LSc, including ECDS [17,18,19]. The recommended dose of methotrexate is 1 mg/kg/week, and the maximum acceptable weekly dose is 25 mg. Supplementation with folic acid (0.4–1 mg per day) or folinic acid (5 mg weekly) is advised while on treatment with methotrexate [19]. To minimize the risk of relapse, the recommended treatment duration of MTX is at least 2 years [20]. For patients with stable, burnt-out lesions, cosmetic correction of the deformities may be performed. The residual defect may be treated with injectable fillers or autologous fat grafting. Resection of the lesion has also proved to be successful [21]. However, the patient should be warned that the surgical treatment does not prevent a relapse to the active, inflammatory phase.

FormalPara Practical Points

  • Linear morphea is the most common subtype of localized scleroderma in children

  • When linear morphea affects the face or scalp it is termed as “En coup de sabre” (ECDS)

  • ECDS is commonly associated with neurological complications, with the most common being epilepsy

  • Active inflammatory lesions in ECDS require aggressive management with phototherapy or oral immunosuppressive agents

  • UVA-1 is the preferred phototherapeutic modality and methotrexate is the oral immunosuppressant of choice