The distribution pattern of segmental vitiligo: clues for somatic mosaicism.

BACKGROUND: Segmental vitiligo is characterized by a unilateral and localized distribution. So far, the underlying mechanism is still an enigma. OBJECTIVES: To get an insight into the aetiopathogenesis of segmental vitiligo by comparison with the distribution pattern of dermatoses with a possible mosaic or neurogenic background. METHODS: In this retrospective observational study the distribution pattern of 724 unilateral, linear or band-shaped control lesions was compared with 181 segmental vitiligo lesions. Clinical photographs were used to score similarities according to a defined grading system (scale ranging from 0 for no similarities to 4 for complete similarity). Control lesions were evaluated both individually and after grouping into different cell types. RESULTS: In general, only a minority of cases (36·9%), showed similarities (grade 1-4) between control lesions and segmental vitiligo. Grade 2-4 similarities were seen mainly in segmental lentiginosis (73·7%, P < 0·001). The best grade for correspondence (grade 3-4) was observed significantly more only in segmental lentiginosis (36·8% vs. 3·5%, P<0·001) and epidermal naevus verrucosus (12·5% vs. 3·7%, P=0·008) compared with the other control lesions. The distribution pattern of segmental vitiligo significantly overlapped those of other disorders originating from melanocytes. CONCLUSIONS: Our results demonstrate that the distribution pattern of segmental vitiligo is not entirely similar to any other skin disease, although some mosaic skin disorders have more overlap with segmental vitiligo than others. The remarkable clinical similarity with several cases of mosaic diseases involving melanocytes supports the hypothesis that cutaneous mosaicism may be involved in segmental vitiligo.

Phacomatosis pigmentovascularis and extensive venous malformation of brain vessels: an unknown association or a new vascular neurocutaneous syndrome?

We report on a 16-year-old intelligent and sportive boy with the cutaneous findings of phacomatosis pigmentovascularis unclassifiable type.The skin anomaly was lateralised to his left body side since birth, fading over the years. Because of headache and dizziness, brain magnetic resonance imaging was performed, which revealed an impressive enlargement of subependymal, deep and superficial medullary veins on the right side combined with a mild atrophy of the ipsilateral parietal region. We propose to investigate patients with phacomatosis pigmentovascularis for associated venous brain malformations with adequate imaging techniques.

Marchiafava-Bignami-like injury of the corpus callosum in an infant.

We report on a 16-month-old boy who presented with truncal ataxia and intermittent nystagmus. Magnetic resonance imaging (MRI) at 19 months showed a T (2)-hyperintensity of the splenium and the genu of the corpus callosum with extension into the adjacent frontal white matter. Diffusion tensor imaging (DTI) revealed a corresponding area of restricted diffusion, suggesting cytotoxic oedema. The extent and localisation of the signal abnormalities mimic tissue injury as seen in Marchiafava-Bignami disease (MBD). Metabolic investigations were normal. Follow-up imaging at 24 months showed a similar T (2)-hyperintensity of the corpus callosum and white matter while on DTI the cytotoxic oedema had resolved. Clinically a remaining truncal and gait ataxia, clumsiness and a developmental delay is seen. Goal of this case report is (a) to present a rare case of Marchiafava-Bignami-like injury of the corpus callosum in an infant and (b) to discuss the neuroradiological imaging findings including MRI and DTI.

Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children.

Rhombencephalosynapsis is a rare congenital abnormality characterised by dorsal fusion of the cerebellar hemispheres, agenesis or hypogenesis of the vermis, fusion of dentate nuclei and superior cerebellar peduncles. We describe 9 children, aged 1.5 to 6 years, with rhombencephalosynapsis. Isolated rhombencephalosynapsis was found in 2 patients, hydrocephalus in 3 children and another 3 children had ventriculomegaly. Additional supratentorial abnormalities were documented in 5 patients. Clinical findings ranged from mild truncal ataxia and normal cognitive abilities to severe cerebral palsy and mental retardation. No correlation between clinical findings and magnetic resonance imaging could be established so far.

Long-term outcome in children with congenital unilateral facial nerve palsy.

During a 20-year period (1980 - 1999) 12 children with isolated congenital unilateral facial nerve palsy were seen at our hospital. The only child delivered by forceps made a full recovery from his palsy within two months, whereas functional improvement in patients with non-traumatic delivery was generally poor. In two patients the palsy affected predominantly the upper periocular region. In 10 children the lower facial region seemed to be mainly involved. Cognitive outcome was within normal limits, with one exception. Conventional neuroimaging was not contributory to the understanding of the pathogenetic mechanisms. We conclude that the majority of congenital unilateral facial nerve palsies are not of traumatic origin and carry a poor functional prognosis.

Trichothiodystrophy with severe cardiac and neurological involvement in two sisters.

UNLABELLED: Trichothiodystrophy or sulphur-deficient brittle hair is a clinical marker for several autosomal recessive neurocutaneous syndromes. The typical hair abnormality is frequently associated with many alterations affecting the skin, nervous system, eyes and bones as well as the immune, gonadal and endocrine systems. We report the first cases of dilated cardiomyopathy in two sisters with trichothiodystrophy, leading to cerebral infarction in the younger one. In addition, both suffer from severe hearing impairment, osteosclerosis, and psychomotor retardation with central hypomyelination. CONCLUSION: Severe cardiac involvement and stroke may be associated features of trichothiodystrophy.