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Tuberous sclerosis with macrodactyly.

B Sahoo1, S Handa, B Kumar

  • 1Department of Dermatology, Venereology, and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Pediatric Dermatology
|December 21, 2000
PubMed
Summary
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Tuberous sclerosis with macrodactyly is rare. This case highlights a 15-year-old girl with skin and bone changes in her left hand, presenting a unique clinical picture.

Area of Science:

  • Dermatology
  • Orthopedics
  • Genetics

Background:

  • Tuberous sclerosis is a rare genetic disorder.
  • Macrodactyly is characterized by disproportionately large digits.
  • The co-occurrence of tuberous sclerosis and macrodactyly is exceptionally uncommon.

Observation:

  • A 15-year-old female presented with a distinctive hyperpigmented skin lesion on her left hand.
  • The patient also exhibited macrodactyly affecting the index and middle fingers of the same hand.
  • The lesion was described as thick and loose, located on the dorsum of the hand.

Findings:

  • Histopathological examination of the skin biopsy revealed dense collagenization within the dermis.
  • Radiographic imaging demonstrated significant, irregular cortical thickening of the metacarpals and phalanges in the affected fingers.

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  • These findings correlate the dermal changes with skeletal abnormalities in the presented case.

    • Implications:

    • This case expands the understanding of the phenotypic variability in tuberous sclerosis.
    • It underscores the importance of considering rare presentations in diagnosing complex genetic disorders.
    • Further research may elucidate the specific mechanisms linking tuberous sclerosis to macrodactyly and associated connective tissue changes.