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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Papillon lefevre syndrome.

B Padhiar1, U Karia, M Shah

  • 1Department of Skin and VD, Civil Hospital, Ahmedabad, India.

Indian Journal of Dermatology, Venereology and Leprology
|October 15, 2010
PubMed
Summary
This summary is machine-generated.

This case study highlights palmoplantar keratoderma and premature tooth loss, a rare condition. Diagnostic imaging, like X-rays, aids in identifying this genetic disorder.

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Published on: November 5, 2019

Area of Science:

  • Dermatology
  • Genetics
  • Odontology

Background:

  • Palmoplantar keratoderma is a group of inherited skin disorders.
  • Dental anomalies can be associated with certain types of palmoplantar keratoderma.
  • Early diagnosis is crucial for managing associated symptoms.

Purpose of the Study:

  • To present a case of a rare condition combining palmoplantar keratoderma with distinct dental anomalies.
  • To emphasize the diagnostic role of clinical examination and radiographic imaging.

Main Methods:

  • Clinical assessment of skin and teeth.
  • Review of patient history.
  • Radiographic examination (X-ray) of dental structures.

Main Results:

  • The patient exhibited diffuse hyperkeratosis of palms and soles.
  • Dental findings included widely spaced, conical upper incisors and missing lower incisors.
  • X-ray imaging supported the diagnosis by revealing specific dental abnormalities.

Conclusions:

  • This case underscores the importance of recognizing the association between palmoplantar keratoderma and dental abnormalities.
  • Multidisciplinary evaluation including dermatology, odontology, and radiology is beneficial for diagnosis.