Syndrome of ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and carcinoma of the thyroid.
We report the case of a 15-year-old girl with a uneventful family history. Her skin condition was clinically, histologically and ultrastructurally compatible with the diagnosis of ichthyosis congenita. She suffered from neurosensory deafness and oligophrenia. Further findings included dental aplasia, brachydactyly, clinodactyly and accessory cervical ribs. At the age of 14, a thyroid carcinoma was diagnosed. Therapy with a retinoid derivative (Ro 10-9359) resulted in a marked improvement of the ichthyosis. We assume a genetic syndrome with autosomal-recessive inheritance.
D000015:Abnormalities, Multiple / Q000150:complications* / Q000235:genetics; D000236:Adenoma / Q000150:complications*; D000293:Adolescent; D003638:Deafness / Q000150:complications; D005050:Etretinate / Q000627:therapeutic use; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007057:Ichthyosis / Q000150:complications* / Q000151:congenital / Q000188:drug therapy / Q000473:pathology; D008607:Intellectual Disability / Q000150:complications; D012272:Ribs / Q000002:abnormalities; D012867:Skin / Q000473:pathology; D013577:Syndrome; D013964:Thyroid Neoplasms / Q000150:complications*; D014071:Tooth Abnormalities
D005050:Etretinate