Hypoplastic thyroid, growth hormone deficiency, corneal opacities, cataract and hyperkeratotic skin disease: a possible new ichthyosis syndrome associated with endocrinopathies

A 56 year old man presented with ichthyosis vulgaris since early childhood, clinically characterised by fine scaling of the trunk and hyperkeratotic scales on the exterior surfaces of the upper and lower extremities. The patient also showed hypothyroidism due to hypoplastic thyroid, cataract, hyperc...

Full description

Saved in:
Bibliographic Details
Published inArchives of Dermatological Research Vol. 296; no. 12; pp. 585 - 587
Main Authors Pichler, Robert, Stelzer, Christoph, Berg, Jörg, Holzinger, Carl, Eckl, Katja Martina, Hennies, Hans Christian, Auböck, Josef
Format Journal Article
LanguageEnglish
Published Germany Springer Nature B.V 01.06.2005
Subjects
Cataract - etiology
Corneal Opacity - etiology
Human Growth Hormone - deficiency
Humans
Hypothyroidism - etiology
Ichthyosis Vulgaris - complications
Ichthyosis Vulgaris - genetics
Keratosis - etiology
Male
Middle Aged
Syndrome
Thyroid Gland - pathology
Online AccessGet full text

Cover

More Information
Summary:A 56 year old man presented with ichthyosis vulgaris since early childhood, clinically characterised by fine scaling of the trunk and hyperkeratotic scales on the exterior surfaces of the upper and lower extremities. The patient also showed hypothyroidism due to hypoplastic thyroid, cataract, hypercholesterinemia with concommitant arcus cornealis and biliary concrements. Renal lithiasis caused by calcio-oxalate was additionally present. Endocrinological screening revealed growth hormone deficiency in the 1.55 m tall man-(secondary) osteoporosis was observed. The clinical symptomatology indicates that this case cannot be considered as a subtype of the inherited ichthyosis group, but suggests a new syndrome as a separate nosologic entity.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0340-3696
1432-069X
DOI:10.1007/s00403-005-0566-8