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, 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.
Pichler
Robert
R
Institute of Nuclear Medicine, Wagner Jauregg Hospital, Wagner Jauregg Weg 15, 4021, Linz, Austria. Robert.Pichler@gespag.at
Stelzer
Christoph
C
Berg
Jörg
J
Holzinger
Carl
C
Eckl
Katja Martina
KM
Hennies
Hans Christian
HC
Auböck
Josef
J
D002386:Cataract / Q000209:etiology*; D003318:Corneal Opacity / Q000209:etiology*; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D007037:Hypothyroidism / Q000209:etiology; D016112:Ichthyosis Vulgaris / Q000150:complications* / Q000235:genetics; D007642:Keratosis / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D013577:Syndrome; D013961:Thyroid Gland / Q000473:pathology*
D019382:Human Growth Hormone