Unusual Presentation of Precocious Puberty and Alopecia Universalis in Saudi Patients with Autoimmune Polyglandular Syndrome Type 1(APS1) without Any Other Manifestation of the Disease: Case Report and a Brief Review of the Literature

Autoimmune polyglandular syndrome type 1 (APS-1) is one of the rare inherited disorder that affects both sexes alike. Although in specific autoimmune dysfunction associated with this syndrome found to be more common in females than males. It has specific criteria usually presented at a specific age. The object of this clinical case report is to highlight this unusual presentation of such condition which is the presence of APS-1 with precocious puberty and alopecia Universalis without any associated symptoms of APS-1 and the gene variations that never had been found before. And up to our knowledge, this is the 1st case in our population and worldwide that has such combination and this is unusual clinical presentation. Autoimmune polyglandular syndrome type 1 (APS-1) is one of the rare inherited disorder that affects both sexes alike. Although in specific autoimmune dysfunction associated with this syndrome found to be more common in females than males. It has specific criteria usually presented at a specific age. The object of this clinical case report is to highlight this unusual presentation of such condition which is the presence of APS-1 with precocious puberty and alopecia Universalis without any associated symptoms of APS-1 and the gene variations that never had been found before. And up to our knowledge, this is the 1st case in our population and worldwide that has such combination and this is unusual clinical presentation.

Case of alopecia universalis

A male,62 years old,suffering from alopecia universalis,was treated with acupuncture.The treating principle was promoting qi and blood circulation.The selected acupoints included Bǎihui(百会GV20),Tàiyáng(太阳EX-HN5),Fengmen(风门BL12),Xīnshū(心俞BL15),Ganshū(肝俞BL18),Shenshū(肾俞BL23),etc.After treated for 3 months,the hair was grown normally and the hair on the scalp got black obviously.In the follow-up for 2 months,the hair on the body and scalp grew in good condition.

Treatment of alopecia totalis/universalis/focalis with vitamin D and analogs:Three case reports and a literature review

BACKGROUND Alopecia areata(AA)is an inflammatory disease with autoimmune,environmental,and inherited components directed at the hair follicle,either limited to patchy hair loss over the scalp(Focalis,AF),total loss of scalp hair(Totalis,AT),or total loss of both scalp and body hair(Universalis,AU).Despite multiple treatment modalities,no therapy exists.Vitamin D deficiency in patients with AA/AT/AF influences disease severity and duration,inversely correlating with inflammation histologically.CASE SUMMARY Three girls presented with AT(P1),AU(P2),and AF(P3)at the ages of 1,5,and 5 years,respectively.For P1-P2,all available treatments implemented for 2 years had failed.We started an initial 6-mo repletion with oral cholecalciferol 2000/4000 IU/d,with no apparent effect.Then we attempted immunomodulation using oral calcitriol and its analog paricalcitol.On calcitriol,0.5 mcg/d P1 regrew hair within 6 mo.After 4 years,a relapse with loss of eyebrow hair was resolved after doubling the calcitriol dose to 0.5 mcg×2/d;the results have been maintained for 6 years to date.On calcitriol,0.25 mcg×3/d P2 led to the development of asymptomatic hypercalcemia-hypercalciuria,which was immediately resolved by switching to paricalcitol 2 mcg×3/d;mild tolerable hypercalciuria was maintained.Hair regrowth was observed at 6 mo,stabilizing only as fur at 12 mo.AF in P3 was resolved completely within 3 mo on a daily high dose(8000 IU)of cholecalciferol.CONCLUSION Vitamin D may have immunomodulating therapeutic impact on AT/AU/AF,which needs to be explored with further pilot clinical trials.