Key points

Introduction

Introduction

History

Lesions of morphea occur insidiously. As they are largely asymptomatic, and the early stages of the disease are nonspecific, seeking medical attention is often delayed. Moreover, lack of familiarity with this condition further adds to delay in diagnosis and treatment. Significant delay has been described ranging from 6 months up to years. Anogenital lichen sclerosus et atrophicus seems to be diagnosed within 1 year from onset, likely due to its symptomatic nature. Extragenital lichen sclerosus et atrophicus is likely underdiagnosed, as it is generally asymptomatic.

Clinical features

The clinical picture of morphea depends on the stage ( Fig. 1 ). The inflammatory phase presents with local redness or violaceous discoloration. When the discoloration is at the periphery of the lesion, it creates the classical lilac ring appearance. It is often mistaken for other entities (see differential diagnosis) or overlooked. Color changes are accompanied by increased local temperature. Local edema and increased collagen deposition will ensue, particularly in the middle part of the lesion, often with waxy, shiny, white discoloration (porcelain-like). As the disease progresses toward more collagen synthesis, the skin becomes indurated and bound down. Burnt-out lesions are characterized by dyspigmentation (often hyperpigmentation), epidermal atrophy (shiny skin with visible venous pattern), dermal atrophy (cliff drop appearance), and subcutaneous atrophy (lipoatrophy to the fascia). Recognition of the level of activity of the lesion is very important in the therapeutic decision algorithm. The extent and location of morphea are also important. Various classification schemes have been proposed; however, the most clinically applicable one includes 5 morphea variants: circumscribed (with superficial and deep variants), generalized, linear (with trunk/limb variant and head variant), pansclerotic and mixed. Other described variants such as guttate or bullous morphea are considered variants of these 5 subtypes, and other conditions such as atrophoderma of Pasini and Pierini, eosinophilic fasciitis, and lichen sclerosus et atrophicus are considered to be part of the spectrum of localised scleroderma (LSc).

( A ) Linear morphea of the limb. ( B ) Plaque morphea with active violaceous border and central waxy infiltration. ( C ) Burnt-out plaque morphea. ( D ) Linear morphea with residual thickening and sclerosis.

The most common presentation in children is linear morphea, either on the extremities or the head (en coup de sabre [ECS] or Parry-Romberg syndrome [PRS]/progressive hemifacial atrophy).

Plaque or circumscribed morphea usually presents on the trunk, as an oval-shaped plaque, with a waxy, ivory sclerotic center, and an erythematous or violaceous border.

Linear morphea is characterized by longitudinally arranged, band-like lesions located predominantly on the extremities, sometimes following the Blaschko lines (demarcation lines, not normally visible, that follow migration patterns of the embryologic skin cells). Deep involvement in a growing child may lead to impaired growth with a limb length discrepancy, muscle atrophy (rarely myositis and myalgia), weakness, flexion contractures, and significant disability. The ECS subtype of linear morphea occurs on the frontoparietal region of the head, usually ranging from the hair-bearing scalp, where it causes alopecia, to the forehead or even to the mandible. Progressive facial hemiatrophy (Parry-Romberg syndrome) is considered a variant of linear morphea. This condition is characterized by primary atrophy of subcutaneous tissue, muscle, and bone with little or no skin involvement. This often results in severe facial asymmetry. The deep type of morphea (morphea profunda) is extremely rare; the fibrotic process affects the deeper layers of connective tissue (fat, fascia, and muscle), resulting in firm and bound down skin. It may manifest without any clinical signs of inflammation. Generalized morphea presents as 4 or more indurated plaques of more than 3 cm of diameter involving 2 or more anatomic sites. These can coalesce into larger lesions. A rare variant of the generalized type is disabling pansclerotic morphea, which predominantly occurs in childhood, and leads to extensive involvement of the skin, fat, fascia, muscle, and bone, resulting in severe contractures and disability. Mixed forms, seen in 15% of cases, are characterized by different types of lesions occurring simultaneously. Guttate morphea is a rare subtype that presents with multiple yellowish or whitish small sclerotic lesions with a shiny surface, primarily on the trunk. Atrophoderma of Pasini and Pierini is possibly an abortive type of morphea, in which there is deeper atrophy, and the lesions have a distinct cliff-border depression compared with the rest of the skin. Eosinophilic fasciitis is considered by some authors to be a subtype of generalized morphea, which exclusively affects extremities and presents with a rapid onset of symmetric swelling of the skin, progressively becoming indurated and fibrotic with a typical peau d’orange-like appearance.

Lichen sclerosus et atrophicus is a condition in which patients develop characteristic pale, shiny, atrophic plaques ( Fig. 2 ). It predominantly affects the anogenital area (with an hour-glass appearance), but it also can present in any other part of the body. Patients with anogenital involvement are often symptomatic with significant pruritus and/or burning sensation. Fissuring may occur, causing further discomfort. Occasionally hemorrhagic blistering may develop, raising concern about child abuse. There is a high prevalence of lichen sclerosus et atrophicus in patients with circumscribed and generalized morphea. Lichen sclerosus et atrophicus coexists with other autoimmune diseases, suggesting a common pathogenic background.

Lichen sclerosis et atrophicus with hypopigmentation and atrophic changes.

Physical examination

The physical examination should focus on establishing the extent of the skin involvement, the signs suggestive of disease activity, and the potential cosmetic and functional impact. Extracutaneous involvement should also be sought. Proper documentation (with the advent of photography) is important, as the body asymmetry may progress even in the absence of ongoing disease activity.

Comorbidities

Approximately 40% of children with morphea have extracutaneous manifestations such as arthritis, neurologic symptoms (headache, seizures), vascular abnormalities (Raynaud phenomenon), ocular involvement, and gastrointestinal and respiratory symptoms. In linear scleroderma involving the face, neurologic involvement such as seizures or brain calcifications, and ocular changes such as uveitis or episcleritis have also been described and require screening even in the absence of symptoms.