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...

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Bibliographic Details
Published in:Archives of Dermatological Research 2005-06, Vol.296 (12), p.585-587
Main Authors: Pichler, Robert, Stelzer, Christoph, Berg, Jörg, Holzinger, Carl, Eckl, Katja Martina, Hennies, Hans Christian, Auböck, Josef
Format: Article
Language:English
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
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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.
ISSN:0340-3696
1432-069X
DOI:10.1007/s00403-005-0566-8