A 10-month-old boy was admitted to the hospital with new-onset muscle spasms. His mother reported that his development lagged behind that of his younger cousins. She was also concerned about his poor hair growth. There was no family history of any of these problems.
Physical examination revealed a markedly hypotonic infant. He was unable to support his head and had a reduced sucking reflex. There was alopecia of the posterior and lateral portions of the scalp, and the hair on the superior aspect of the scalp appeared to stand on end (Figure 1). The hair was wiry in texture and contained patches of brown, blonde, and gray hair. There were small, hypopigmented macules on the scalp. Light microscopy of the hair was performed (Figure 2).
Oyler RM. Fragile Hair and Seizures in a Child. Arch Dermatol. 2000;136(3):417-422. doi: