Misdiagnosis and delay in referral of children with localized scleroderma

Background: Localized scleroderma (LS) usually begins in childhood with a broad clinical spectrum and the diagnosis is often delayed.

Objectives: To investigate the diagnostic pathway in a large cohort of paediatric patients with LS, to identify the duration until correct diagnosis and to characterize clinical clues for early diagnosis.

Methods: A retrospective case note review of 50 children with LS.

Results: The median (range) age at disease onset was 5·2 (0·1-14·4) years and disease duration until diagnosis 11·1 (1·8-79) months. The patients were first seen by a general practitioner (or paediatrician) after 1·2 (0·2-48·7) months and in none of the cases was the condition recognized at presentation according to a parental questionnaire (no diagnosis in 44%, misdiagnosis of atopic eczema 20%, melanocytic naevus 8%, fungal infection 6%, bruise 4%, varicose vein 4%, bacterial infection 4% and others). The patients were referred to a local specialist (dermatologist in 72%) after a disease duration of 7·5 (1·0-70·9) months and in 64% the correct diagnosis was established. In 20% the diagnosis remained unknown, 8% were misdiagnosed as port-wine stains and others as atopic eczema and melanocytic naevus. The correct diagnosis was eventually identified by the referring dermatologists, the paediatric dermatologists at our hospital, external maxillofacial surgeons and a paediatrician in 29 (58%), 17 (34%), 3 (6%) and 1 (2%), respectively. Histology was performed in 15 (30%). The patients were commenced on appropriate treatment after a disease duration of 16·6 (1·8-113·4) months. The main clinical diagnostic clues were: Blaschko-linear distribution 76%, atrophic changes 68%, skin fibrosis 40% and loss of scalp hair or eyelashes 36%.

Conclusions: Physicians involved in the care of these children need to be aware of the characteristic clinical appearance of LS for early recognition and prompt initiation of treatment.