[Rothmund-Thompson syndrome with glaucoma. Endocrine study].

Abstract

Two cases of Rothmund-Thomson syndrome in siblings are described. The elder patient, whose case was best documented and who was followed for several years, had the characteristic skin changes of poikiloderma congenitale with small stature and mental deficiency. Upon ophthalmologic examination, this patient was shown to have bilateral glaucoma which was treated surgically, while the cataract typically found in Rothmund-Thomson syndrome was lacking. Primary hypogonadism was confirmed by endocrinologic investigations; anterior pituitary hormones were normally released. With reference to this observation differential diagnosis is discussed; the medical literature is reviewed.

• Authors: M Nathanson, M Dandine, J Gaudelus, S Mousset, D Lasry, R Perelman
• Journal: La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris (Sem Hop) Vol. 59 Issue 48 Pg. 3379-84 (Dec 22 1983) France
• Vernacular Title: Syndrome de Rothmund-Thomson avec glaucome. Etude endocrinienne.
• PMID: 6318363 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Luteinizing Hormone
• Follicle Stimulating Hormone

Topics

• Abnormalities, Multiple (complications, diagnosis, genetics)
• Adolescent
• Child
• Female
• Follicle Stimulating Hormone (blood)
• Glaucoma (complications)
• Humans
• Hypogonadism (diagnosis)
• Luteinizing Hormone (blood)
• Male
• Rothmund-Thomson Syndrome (complications, diagnosis, genetics)
• Skin Diseases (diagnosis)