Down syndrome, alopecia universalis, and trachyonychia

Area of Science:

• Dermatology
• Genetics
• Pediatrics

Background:

• Down syndrome is associated with various dermatological conditions, including nail abnormalities.
• Alopecia universalis is a rare autoimmune condition causing extensive hair loss.
• Tinea unguium (onychomycosis) is a common fungal nail infection, often considered in cases of nail dystrophy.

Observation:

• A 16-year-old male with Down syndrome and alopecia universalis presented with severe dystrophy affecting all fingernails and toenails.
• A prior diagnosis of tinea unguium was made, and antifungal therapy was administered over nine years.
• Despite treatment, the patient's nail condition progressively worsened, and fungal elements were not detected.

Findings:

• The clinical presentation and negative fungal cultures suggest that the patient's nail dystrophy is not due to tinea unguium.
• The nail changes are most consistent with alopecia-associated trachyonychia (formerly known as 20-nail dystrophy).
• This represents the first reported case of alopecia-associated trachyonychia in an individual with Down syndrome.

Implications:

• Alopecia-associated trachyonychia should be considered in the differential diagnosis of nail dystrophy in individuals with Down syndrome and alopecia universalis.
• This finding expands the known spectrum of dermatological manifestations associated with Down syndrome.
• Further research is warranted to understand the potential link between these conditions and their underlying mechanisms.