[Plaque-type scleroderma associated with linear and oesophageal features and facial and extra-facial hemiatrophy]. / Sclérodermie en plaques et linéaire avec hémiatrophie faciale et extra-faciale et atteinte oesophagienne.

BACKGROUND: Association of scleroderma with hemiatrophy is rare. The case we describe is unusual because of the combination in the same patient of several sub-types of scleroderma with oesophageal involvement and facial and extra-facial hemiatrophy. CASE REPORT: A 38-year-old women suffering from plaque-type morphea presented oesophageal dysfunction during the course of her disease with positive anti-Scl70-antibodies and progressive right-sided hemiatrophy of the face, sternocleidomastoid, thumb and thenar eminence. Linear hyperpigmentation of the right arm and a "coup de sabre" appearance on the face were also noted. DISCUSSION: Facial and extra-facial hemiatrophies are usually associated with or originate secondary to linear scleroderma. Only two cases with systemic involvement have been reported but hemiatrophy was localised to the face. The present case is unusual because of its onset as morphea in plaque form, because of the oesophageal involvement and the additional association of morphea in a linear form and facial and extra facial hemiatrophy. The relationship between sclerodermic facial hemiatrophy and Romberg facial hemiatrophy is also discussed. CONCLUSION: The combination of several sub-types of scleroderma and facial and extra-facial hemiatrophy in the same patient may indicate that these entities actually represent different spectra of the same disease.

X-linked reticulate pigmentary layer. Report of a new patient and demonstration of a skewed X-inactivation.

We report a boy, born to healthy first cousin parents, with diffuse hyperpigmentation of the skin and guttate hypomelanotic lesions, photophobia, abnormal hair, developmental delay, and recurrent bronchitis. Skin histology showed pigmentation incontinence with numerous melanophages. Electron microscopy showed a very high number of melanosomes and some degenerating keratinocytes. These features correspond to a rare genodermatosis, the X-linked reticulate pigmentary disorder with systemic manifestations. Skewed X-inactivation patterns were detected in the mother's lymphocytes.