[Ocular findings in monilethrix: a case report (author's transl)]

Area of Science:

• Dermatology
• Ophthalmology
• Genetics

Background:

• Monilethrix is a rare inherited hair shaft disorder.
• It primarily affects hair follicles, causing characteristic beaded hair.
• Ocular manifestations are not commonly reported.

Observation:

• A case of monilethrix is presented.
• The patient exhibited bilateral cataract.
• Additional ocular findings included blepharitis and corneal pannus.

Findings:

• This case expands the known clinical presentation of monilethrix.
• It highlights a potential association between monilethrix and significant ocular abnormalities.
• The co-occurrence of hair, lens, eyelid, and corneal pathology is noteworthy.

Implications:

• Suggests a possible syndromic association or a broader impact of the genetic defect in monilethrix.
• Warrants ophthalmological screening in patients diagnosed with monilethrix.
• Further research is needed to elucidate the underlying mechanisms connecting hair and eye findings.