Congenital morphea profunda in a 7-year-old male patient with coexistence of fibrous hamartoma of infancy: a rare case report

Scleroderma is a rare spectrum of fibrosing disorders ranging from systemic sclerosis to localized scleroderma (morphea). The etiology is believed to involve activation of fibroblasts, increased production of collagen, and immunologic abnormalities [1]. The incidence of localized scleroderma is around 0.3 to 3 cases per 100 000 inhabitants/year. The prevalence of morphea is similar in children and adults. The peak incidence occurs in the fifth decade of life in adults, whereas 90% of children are diagnosed with the disease between 2 and 14 years of age [2].
Childhood scleroderma can be associated with significant morbidity and disability [3, 4]. Superficial patches of morphea may be relatively benign. However, linear scleroderma tends to involve not only the skin but also subcutaneous tissue, muscle tissue and bone, resulting in functional disabilities and cosmetic problems. Many children develop severe atrophy of the extremities, deformities, contractures and limb length discrepancies. In the en coup de sabre (ECDS) variety, involvement of the underlying structures may cause hemiatrophy of the face and facial deformity or even eye and brain complications [5, 6].
Two large international retrospective studies of childhood scleroderma published in 2006 highlighted the heterogeneous nature of scleroderma and juvenile systemic sclerosis [7, 8]. Like many other connective tissue diseases, juvenile localized scleroderma mainly involves females. This female preponderance is most marked after the age of 10 and is more evident in the generalized morphea and deep morphea subtype. In a cohort study conducted by Zulian et al., linear scleroderma (LS) was the most frequent subtype (65%), followed by plaque morphea (PM) (26%), generalized morphea (GM) (7%) and deep morphea (DM) (2%). Approximately 15% of the patients had a mixed subtype [7]. Of note, the most frequent form of localized scleroderma in adults is plaque morphea [9, 10].
We present a case of a 7-year-old male patient, who presented with atrophic plaques on the trunk and deformity of the right lower limb. Physical examination revealed multiple hyperpigmented ill-defined patches across the trunk. The biggest patch was localized in the left lower quadrant of the trunk and three other patches were on the chest. In addition, there were longitudinally arranged linear, band-like lesions extending the right lower limb with muscle atrophy and knee joint flexion contracture. The superficial blood...


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