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

Robert Pichler, Christoph Stelzer, Jörg Berg, Carl Holzinger, Katja-Martina Eckl, Hans Christian Hennies, Josef Auböck

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)585-7
JournalArchives of Dermatological Research
Volume296
Issue number12
DOIs
Publication statusPublished - Jun 2005

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Corneal Opacity
Ichthyosis
Thyroid Hormones
Skin Diseases
Cataract
Growth Hormone
Ichthyosis Vulgaris
Lithiasis
Oxalates
Hypothyroidism
Osteoporosis
Lower Extremity
Thyroid Gland
Kidney

Cite this

Pichler, Robert ; Stelzer, Christoph ; Berg, Jörg ; Holzinger, Carl ; Eckl, Katja-Martina ; Hennies, Hans Christian ; Auböck, Josef. / Hypoplastic thyroid, growth hormone deficiency, corneal opacities, cataract and hyperkeratotic skin disease: a possible new ichthyosis syndrome associated with endocrinopathies. In: Archives of Dermatological Research. 2005 ; Vol. 296, No. 12. pp. 585-7.
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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.",
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Hypoplastic thyroid, growth hormone deficiency, corneal opacities, cataract and hyperkeratotic skin disease: a possible new ichthyosis syndrome associated with endocrinopathies. / Pichler, Robert; Stelzer, Christoph; Berg, Jörg; Holzinger, Carl; Eckl, Katja-Martina; Hennies, Hans Christian; Auböck, Josef.

In: Archives of Dermatological Research, Vol. 296, No. 12, 06.2005, p. 585-7.

Research output: Contribution to journalArticle

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AU - Pichler, Robert

AU - Stelzer, Christoph

AU - Berg, Jörg

AU - Holzinger, Carl

AU - Eckl, Katja-Martina

AU - Hennies, Hans Christian

AU - Auböck, Josef

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AB - 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.

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