[Ichthyosis vulgaris, growth retardation, hair dysplasia, tooth abnormalities, immunologic deficiencies, psychomotor retardation and resorption disorders. Case report of 2 siblings].
Two siblings (4 and 10 years old) with ichthyosis vulgaris, growth and mental retardation, hair dysplasia, teeth abnormalities, recurrent infections and malabsorption are presented. The elder sister of the children as well as the rest of the family are unremarkable. The complex of symptoms does not fit into one of the known Ichthyosis syndromes. Microscopically the dystrophic hairs show changes in diameters, nodules, lack of the medulla, rough cuticle and splits vertical to the axis, sometimes resembling trichorrhexis nodosa. In the scanning electron-microscope there is a clear difference to Netherton's syndrome. The plasma concentrations of the vitamines A, B12 as well as of beta-carotines are low in spite of normal nutrition. During parenteral therapy with vitamin A and B12 symptoms ameliorate slightly.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006201:Hair Diseases / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007153:Immunologic Deficiency Syndromes / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D014071:Tooth Abnormalities / Q000235:genetics
Ichthyosis vulgaris, Minderwuchs, Haardysplasie, Zahnanomalien, Immundefekte, psychomotrische Retardation und Resorptionsstäorungen. Kasuistischer Bericht über zwei Geschwister.