LETTER TO THE EDITORS Robert Pichler Æ Christoph Stelzer Æ Jo¨rg Berg Carl Holzinger Æ Katja Martina Eckl Hans Christian Hennies Æ Josef Aubo¨ck Hypoplastic thyroid, growth hormone deficiency, corneal opacities, cataract and hyperkeratotic skin disease: a possible new ichthyosis syndrome associated with endocrinopathies Received: 17 January 2005 / Revised: 24 March 2005 / Accepted: 30 March 2005 / Published online: 5 May 2005 Ó Springer-Verlag 2005 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, hypercholester- inemia 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. Keywords Ichthyosis syndrome Æ Hypothyroidism Æ Growth hormone deficiency Report A 56 year old man presented with ichthyosis vulgaris on the trunk and on the extensor surfaces of the upper and lower extremities. This condition has been known since early childhood. The patient was not satisfied with the concept of a skin biopsy, which was not insisted on because of the typical appearance of the scaling lesions (see Fig. 1). The patient’s mother is reported by family members to have had similar hyperkeratotic skin disease, more clinical data about her is not available. The patient’s father did not have another child with her. The 1.55 m tall, unskilled worker received levothy- roxine since 1984 when hypothyroidism was diagnosed in a local hospital. When he presented in our outpatient service in September 1997, the levels of thyroid hor- mones were normal but thyrotropine (TSH = 8.5 ng/ ml) was above the normal range of 4,0 ng/ml, receiving 0.1 mg levothyroxine/d. Neck sonography showed hyp- otrophic thyroidal lobes of 1 cc volume each. Spontaneous urolithic abortion happened twice some years ago. Ultrasound examination of the kidneys con- firmed the presence of a small stone in the renal pelvis which remained asymptomatic. Crystals of calcio-oxa- late were observed in urine sedimentation. Additional screening focused on the pituitary. Mag- netic resonance tomography of the sella region excluded the presence of adenoma in January 1998. The levels of prolactin, ACTH (and cortisol) were normal, TSH was in the normal range under medication with 0.125 mg levothyroxine. Growth hormone (HGH) was 0.3 ng/ml and insulin-like-growth-factor-I 66 ng/ml—this is below the limit of 144 ng/ml. We practised both GH releasing hormone and insulin tolerance testing, which revealed a peak response of 3.9 ng/ml HGH. The finding of mod- erate growth hormone deficiency in adulthood corre- sponds with the small height of the patient. Various case R. Pichler (&) Institute of Nuclear Medicine, Wagner Jauregg Hospital, Wagner Jauregg Weg 15, 4021 Linz, Austria E-mail: Robert.Pichler@gespag.at Fax: +43-732-692146112 C. Stelzer Æ J. Aubo¨ck Department of Dermatology, General Hospital Linz, Linz, Austria J. Berg Institute of Laboratory Medicine, General Hospital Linz, Linz, Austria C. Holzinger Department of Ophthalmology, General Hospital Linz, Linz, Austria K. M. Eckl Æ H. C. Hennies Department of Molecular Genetics and Gene Mapping Center, Max Delbrueck Center for Molecular Medicine, Berlin, Germany Arch Dermatol Res (2005) 296: 585–587 DOI 10.1007/s00403-005-0566-8