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Related Concept Videos

Skin Cancer01:30

Skin Cancer

Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
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Papillary Dermis01:11

Papillary Dermis

Dermis
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Reticular Dermis01:15

Reticular Dermis

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Skin Diseases and Disorders01:23

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Cells of the Epidermis01:24

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Updated: Jun 8, 2026

Combining Reflectance Confocal Microscopy with Optical Coherence Tomography for Noninvasive Diagnosis of Skin Cancers via Image Acquisition
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Combining Reflectance Confocal Microscopy with Optical Coherence Tomography for Noninvasive Diagnosis of Skin Cancers via Image Acquisition

Published on: August 18, 2022

Angiokeratoma corporis diffusum.

R P Sharma1, N K Sharma, S Mithal

  • 1Departments of Dermatology, Ophthalmology and Pathology, LLRM Medical College, Meerut - 250 004, India.

Indian Journal of Dermatology, Venereology and Leprology
|October 19, 2010
PubMed
Summary
This summary is machine-generated.

This case report details angiokeratoma corporis diffusum with retinal vessel changes but no kidney issues. It highlights variations in this rare genetic disorder.

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Area of Science:

  • Genetics
  • Ophthalmology
  • Nephrology

Background:

  • Angiokeratoma corporis diffusum (ACD) is a rare genetic disorder.
  • It is characterized by a deficiency in the enzyme alpha-galactosidase A, leading to ceroid buildup in tissues.
  • Typical manifestations include skin lesions and systemic involvement, particularly the kidneys.

Purpose of the Study:

  • To report a unique case of angiokeratoma corporis diffusum.
  • To highlight atypical clinical presentation without renal involvement.
  • To discuss the diagnostic and management implications of such variations.

Main Methods:

  • Clinical case presentation.
  • Ophthalmic examination including fundoscopy.
  • Review of relevant literature.

Main Results:

  • The patient presented with classical skin findings of angiokeratoma corporis diffusum.
  • Ophthalmic examination revealed characteristic dilatation of retinal vessels.
  • Crucially, there were no urinary signs or symptoms indicative of renal involvement.

Conclusions:

  • Angiokeratoma corporis diffusum can present with atypical features, notably the absence of renal compromise.
  • Retinal vessel changes may be a prominent early sign.
  • This case underscores the importance of comprehensive evaluation and awareness of phenotypic variability in ACD.