Monilethrix with variable expressivity

Area of Science:

• Dermatology
• Genetics
• Trichology

Background:

• Monilethrix is an autosomal dominant hair shaft disorder.
• Characterized by short, broken scalp hairs and follicular hyperkeratosis.
• Light microscopy reveals a distinctive beaded hair shaft appearance.

Observation:

• A 32-year-old male presented with sparse hair.
• The patient exhibited follicular keratotic papules.
• No family history of hair disorders was reported.

Findings:

• The case presents a sporadic occurrence of Monilethrix.
• Clinical presentation included sparse hair and follicular papules.
• This challenges the typical autosomal dominant inheritance pattern observed in most cases.

Implications:

• This case expands the clinical spectrum of Monilethrix.
• Highlights the importance of considering genetic disorders even with no family history.
• Further research into the genetic underpinnings of sporadic Monilethrix is warranted.