title: Hypoplastic thyroid, growth hormone deficiency, corneal opacities, cataract and hyperkeratotic skin disease: a possible new ichthyosis syndrome associated with endocrinopathies.
abstract: 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.
authors.affiliation: Institute of Nuclear Medicine, Wagner Jauregg Hospital, Wagner Jauregg Weg 15, 4021, Linz, Austria. Robert.Pichler@gespag.at
authors.forename: Robert
authors.initials: R
authors.lastname: Pichler
authors.forename: Christoph
authors.initials: C
authors.lastname: Stelzer
authors.forename: Jörg
authors.initials: J
authors.lastname: Berg
authors.forename: Carl
authors.initials: C
authors.lastname: Holzinger
authors.forename: Katja Martina
authors.initials: KM
authors.lastname: Eckl
authors.forename: Hans Christian
authors.initials: HC
authors.lastname: Hennies
authors.forename: Josef
authors.initials: J
authors.lastname: Auböck
mesh_terms: 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*
chemical_list: D019382:Human Growth Hormone