Background/Purpose:

Localized scleroderma is an autoimmune disease characterized by disfiguring thickening and fibrosis of the skin and underlying soft tissues; the majority of cases have onset in childhood.  Multiple subtypes exist, including linear scleroderma, which is most common in children.  Linear scleroderma involving the face and scalp is known as En Coup de Sabre (ECDS) and hemifacial atrophy that is often associated with ECDS or occurs alone is known as Parry Romberg Syndrome (PRS).  Extracutaneous features are often associated with ECDS and PRS, including neurological, eye and dental abnormalities.

Methods:

The patients and their associated disease characteristics of our Children’s Hospital pediatric onset ECDS/PRS cohort were evaluated from years 2002-2012.  This included demographic features, lesion characteristics, laboratory characteristics, extracutaneous manifestations, quality of life, family history, and response to medical and surgical treatment.  Descriptive statistics were employed.

Results:

 Twenty patients in our ECDS/PRS cohort were identified, with mean age onset 5.9 years (±  4.5 ), time to diagnosis 1.9 years (± 2.3), female to male ratio (3:2), and majority were Caucasian (85%).  The majority of patients had features of both cutaneous disease (ECDS) and hemifacial atrophy (PRS).  The most common symptom at presentation was hyperpigmentation (65 %), followed by skin and subcutaneous depression ( 50%).  Erythema or violaceous discoloration was common in patients presenting with active disease (55%).  Antibody positivity for ANA, ss-DNA and histone ranged from 25-44%. Seven patients (35%) had neurological manifestations including the following: a pontine lesion associated with chronic ataxia, dysarthria, and cognitive dysfunction; a cerebral infarction; and white matter lesions on MRI ipsilateral to cutaneous lesion.  One-third of the cohort patients had either an ophthalmologic or dental complication.  Autoimmune thyroiditis was the most common familial autoimmune disease (20% 1^st degree, 35% 2^nd degree).  

The majority of cohort patients were treated with prednisone and methotrexate; treatment was successful in halting disease and reversing a few active features, though less successful in reversing chronic disease damage.  Mean follow-up of cohort 30.2 months (± 19.4).  Four patients underwent surgical repair with lipoaspirated fat injection for volume restoration.  Sterophotogrammetry 3-D imaging was used to objectively quantify facial morphology to assess patients’ response to both surgical and medical therapy.

Conclusion:

 Our ECDS and PRS cohort demonstrated similar clinical findings of disease and associated ECM compared to other studies.  Screening with brain MRI, ophthalmologic and dental evaluations for associated complications is reasonable in light of one-third of our cohort having neurologic, ophthalmologic, or dental involvement, some of which had a serious impact on daily living and QOL.