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A novel congenital ichthyosiform syndrome with associated panhypopituitarism, corneal opacities and mental retardation

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Abstract

A 15-year-old male presented with ichthyosis since infancy with panhypopituitarism, short stature and knock-knees, delayed puberty, high scrotal retractile testes, mental retardation and corneal opacities. He developed recurrent tinea capitis and tinea corporis. The clinical symptomatology indicates that this case cannot be considered as a subtype of inherited ichthyosis group, but suggests a new syndrome as a separate nosologic entity. Two previously reported cases with possibly the same syndrome also had ichthyosis associated with variable endocrinopathy. Thorough endocrinological evaluation and appropriate intervention in patients of ichthyosis with short stature may reduce the morbidity associated with retarded skeletal growth and gonadal maturation.

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Acknowledgments

The authors acknowledge Dr. Anupama Tandon (Lecturer, Department of Radiology, University College of Medical Sciences, Delhi) for her assistance in the interpretation of radiological findings.

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Authors and Affiliations

  1. Department of Dermatology and STD, University College of Medical Sciences, and Guru Teg Bahadur Hospital, Delhi, 110095, India

    Deepika Pandhi, Deepshikha Khanna & Archana Singal

  2. Department of Medicine, University College of Medical Sciences, and Guru Teg Bahadur Hospital, Delhi, 110095, India

    Sri Venkata Madhu

  3. B-14, Law Apartments, Karkardooma, Delhi, 110092, India

    Archana Singal

Authors
  1. Deepika Pandhi
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  2. Deepshikha Khanna
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  3. Archana Singal
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  4. Sri Venkata Madhu
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Correspondence to Archana Singal.

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Pandhi, D., Khanna, D., Singal, A. et al. A novel congenital ichthyosiform syndrome with associated panhypopituitarism, corneal opacities and mental retardation. Arch Dermatol Res 299, 457–460 (2007). https://doi.org/10.1007/s00403-007-0783-4

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  • DOI: https://doi.org/10.1007/s00403-007-0783-4

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