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Objective: To review current knowledge of etiologic, clinic, diagnostic and therapeutic aspects of ichthyotic diseases with neurologic manifestations., Development: Classic keratotic neurocutaneous syndromes including Sjögren-Larsson syndrome, trichotyodystrophy, KID (keratitis, ichthyosis and deafness) syndrome and Rud syndrome, are reviewed. Furthermore, we pay attention to syndromes whose description and study are of current importance: cardiofaciocutaneous syndrome, neutral lipids storage disease with ichthyosis, multiple sulphatase deficiency disease and peroxisomal disorders., Conclusions: Keratotic neurocutaneous syndromes knowledge will help to improve its diagnosis and therapeutic approach.

The case of an 11-year-old girl with a history of chondrodysplasia punctata is reported. She presented with a clinical picture of abdominal pain and vomiting. At surgical intervention an organo-axial gastric volvulus was found and a single derotation was performed. Three weeks after discharge the patient presented abdominal distension and vomiting. In a plain abdominal X-ray film a gastric dilation was appreciated and a new volvulus was detected by means of a contrast radiogram. The diagnosis was confirmed at surgery and a gastropexy was performed without volvulus relapse.

Two cases are presented, a female and a male, with a clinical and radiological picture which can be included in Kniest's syndrome. Both patients showed significant psychomotor retardation. The boy presented bilateral glaucoma. The osseous biopsy of the girl showed many large sized chondrocytes in the cartilagenous tissue surrounded by clear lacunae and immersed in a loose matrix giving them the appearance of Swiss cheese.

Clinical data of nine cases of chondrodysplasia punctata, eight males and one female are reported. Two males presented with rhizomelic form, characterized by severe symmetrical shortness of humeri and femora, marked metaphyseal changes, severe psychomotor retardation and cataracts. Consanguinity of parents in one of these cases was consistent with homozygote for an autosomal retarded physical development starting early in life. Cataracts were absent, and psychomotor development was normal except in two cases who were severely retarded. These two cases suffered also from congenital cardiomyopathy (one case of aortic coarctation and the other of severe pulmonary hypertension without shunts). These seven cases were diagnosed of Conradi-Hunermann type which is a mild form of disease.