Landau et al reported a simple method for diagnosing monilethrix in a neonate or young infant with alopecia. The authors are from Edith Wolfson Medical Center in Holon and Tel Aviv Sourasky Medical Center in Israel.
Inheritance: autosomal dominant
Microscopic examination of a mature hair from an affected patient shows a necklace like appearance with nodular areas alternating with zones of constriction. The hair is fragile and tends to break through the constricted areas. These changes may only be evident in the proximal portion of the hair.
The number of affected hairs varies between patients with some patients showing few affected hairs while others may develop alopecia.
At birth the lanuga hairs are usually clinically normal in most patients and the condition does not become apparent until mature hair appears.
A patient with a severe phenotype may appear bald at birth and any remaining hairs may be simply brushed off.
The authors performed a microscopic examination on material scraped from an infant's scalp, carefully using the edge of a glass slide or a metal spatula. The scrapings may show enough hairs with the characteristic fragmentation and constrictions to make the diagnosis without the need for a biopsy.
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