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Lamellar ichthyosis with rickets

Raafia Ali1, Shahbaz Aman2, Muhammad Nadeem3

  • 1Raafia Ali, Department of Dermatology, King Edward Medical University/ Mayo Hospital, Lahore, Pakistan.

Pakistan Journal of Medical Sciences
|December 20, 2013
PubMed

Insights

Lamellar ichthyosis, a rare genetic skin disorder, can co-occur with rickets, a bone condition caused by vitamin D deficiency. This case highlights the importance of recognizing this association in affected individuals.

Area of Science:

  • Dermatology
  • Pediatrics
  • Genetics

Background:

  • Lamellar ichthyosis (LI) is a rare, autosomal recessive genetic skin disorder presenting at birth, often as a collodion baby with generalized scaling.
  • Rickets is a bone disease caused by vitamin D or calcium deficiency, primarily affecting rapidly growing bones in children aged 6-24 months.
  • The association between ichthyosis subtypes and rickets is recognized, necessitating awareness of potential comorbidities.

Observation:

  • This report details a rare case of lamellar ichthyosis presenting with rickets in a 14-year-old female patient.
  • The patient exhibited typical lamellar ichthyosis characteristics, including generalized scaling accentuated in specific areas.
  • The co-occurrence of these conditions in an older child underscores the chronic nature and potential complications.

Findings:

  • The case confirms the documented association between lamellar ichthyosis and rickets.
  • It highlights that rickets can manifest or persist into adolescence in individuals with severe ichthyosis.
  • This presentation emphasizes the need for comprehensive metabolic evaluation in patients with ichthyosis.

Implications:

  • Early diagnosis and management of both lamellar ichthyosis and rickets are crucial for preventing long-term skeletal deformities and improving patient outcomes.
  • Healthcare providers should consider screening for vitamin D and calcium deficiencies in all patients diagnosed with ichthyosis.
  • Further research into the pathomechanisms linking these conditions may reveal novel therapeutic targets.

Keywords:
Lamellar ichthyosisRicketsVitamin D deficiency

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