Blaschke S, Möller R, Hausser I, Anton-Lamprecht I, Paul E
Hautklinik, am Klinikum Nürnberg-Nord.
Hautarzt. 1998 Jun;49(6):499-504. doi: 10.1007/s001050050778.
The Comèl-Netherton syndrome is a rare autosomal recessive hereditary disease. A 23-year old female presented with the classical triad of ichthyosis linearis circumflexa, trichorrhexis invaginata with bamboo hairs of up to 12 cm length and atopic diathesis. Nevertheless, more than 20 years passed before the final diagnosis was established. In addition, the patient was slightly mentally retarded and suffered from a genital papillomatosis, minimal hypergammaglobulinaemia and a marked bilateral eyelid ectropion, more severe than previously reported. Oral therapy with Acitretin was quite successful.
科梅耳-内特尔顿综合征是一种罕见的常染色体隐性遗传性疾病。一名23岁女性表现出典型的三联征，即回旋线状鱼鳞病、具有长达12厘米竹节状毛发的套叠性脆发症和特应性素质。然而，在最终确诊之前过去了20多年。此外，该患者有轻度智力障碍，患有生殖器乳头瘤病、轻度高球蛋白血症和明显的双侧眼睑外翻，比先前报道的更为严重。阿维A口服治疗相当成功。
