Introduction

• Definition: Rare X-linked genetic disorder affecting the skin, hair, teeth, nails, eyes, and CNS.
• Prevalence:
  • Reported prevalence: ~1.2/100,000 in Europe.
  • Female:Male ratio: 20:1.
  • High penetrance with variable expressivity.

  Clinical Characteristics

  1. Skin Lesions:

     • Follow Blaschko lines (cell migration pathways during embryogenesis).
     • Evolve through four stages:
       1. Stage I (Bullous):
          • Blister-like eruptions (linear on extremities, circumferential on the trunk).
          • Onset: Birth to ~8 weeks; resolves by ~18 months.
       2. Stage II (Verrucous):
          • Wart-like rash, linear or circumferential.
          • Onset: Resolves stage I; lasts months to years.
          • May include dystrophic nails and delayed tooth eruption.
       3. Stage III (Hyperpigmentation):
          • Slate gray/brown swirled patterns.
          • Onset: ~6 months; persists into adulthood, fades in late teens/20s.
       4. Stage IV (Atretic):
          • Linear hypopigmentation, alopecia (scalp, trunk, extremities).
          • Follows fading hyperpigmentation; not present in all individuals.

       Genetics

       • Alopecia (patchy or generalized).
       • Sparse, wiry, or lusterless hair.
       • Sparse eyelashes or eyebrows.

       Diagnosis

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       Information

       Published:11 December 2024 Last Updated:11 December 2024