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Abstract
Aim To highlight the rarity of Alopecia Totalis in Trisomy 21 and a possible association with subclinical hypothyroidism.
Method A 2 year old boy with known Trisomy 21 presented with a sudden onset of Alopecia Totalis – beginning with a lightening of hair colour followed by rapid hair loss (Figures 1 and 2) – with no apparent trauma, infection, change in medication or other symptoms. A full clinical examination was carried out on presentation with no findings other than the Alopecia Totalis and features of Trisomy 21. A persistently raised TSH was noted following investigations. Anti-nuclear antibody and thyroid peroxidase antibodies were negative. The Alopecia Totalis persisted with no spontaneous recovery. A small dose of thyroxine 25 micrograms was commenced in view of the persistently raised TSH.
Results TSH reverted to normal with the commencement of Thyroxine. In addition, hair growth appeared on the eyebrows and for a few months on the scalp before falling away again.
Conclusion Alopecia Totalis is a rare clinical finding in children. Limited hair loss, (Alopecia Areata) has been reported in children with Trisomy 21, with a possible association of hypothryoidism. A literature search did not identify any reported cases of Alopecia Totalis in a child with Trisomy 21 and concurrent hypothyroidism. Causation and management remains unclear. Investigations for possible hypothyroidism may be useful in managing this rare condition.