BACKGROUND Dyschromatosis universalis hereditaria(DUH)is a rare type of autosomal dominant inheritance disease.It has varying gene mutation sites among different ethnicities.SASH1 and ABCB6 have been identified as the...BACKGROUND Dyschromatosis universalis hereditaria(DUH)is a rare type of autosomal dominant inheritance disease.It has varying gene mutation sites among different ethnicities.SASH1 and ABCB6 have been identified as the causative genes of this disorder.CASE SUMMARY A 30-year-old woman presented with irregular black pigmentation spots to our department.Upon examination,the pigmentations were found to be especially dense on the extremities and the face.She had no family history of inbreeding,nor any previous chemical exposure.Genetic testing confirmed that the disease occu-rred because the patient has a SASH1 gene mutation.Following the use of assisted reproductive technology and preimplantation genetic testing for monogenic disorders,the patient give birth to a health baby.CONCLUSION Using assisted reproductive technology/preimplantation genetic testing for monogenic disorders is an option for DUH patients to reduce the risk of trans-mitting the pathogenic variant to their offspring.展开更多
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...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.展开更多
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...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.展开更多
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 i...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.展开更多
Background： The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules. Dyschromatosis universalis hereditaria （DUH） and dyschromatosis symm...Background： The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules. Dyschromatosis universalis hereditaria （DUH） and dyschromatosis symmetrica hereditaria are two major types. While clinical and histological presentations are similar in these two diseases, genetic diagnosis is critical in the differential diagnosis of these entities. Methods： Three patients initially diagnosed with DUH were included. The gene test was carried out by targeted gene sequencing. All mutations detected on ADAR1 and ABCB6 genes were analyzed according to the frequency in control database, the mutation types, and the published evidence to determine the pathogenicity. Results： Family pedigree and clinical presentations were reported in 3 patients from two Chinese families. All patients have prominent cutaneous dyschromatoses involving the whole body without systemic complications. Different pathogenic genes in these patients with similar phenotype were identified： One novel mutation on AD,4RI （c. 1325C〉G） and one recurrent mutation in ABCB6 （c. 1270T〉C）, which successfully distinguished two diseases with the similar phenotype. Conclusion： Targeted gene sequencing is an effective tool for genetic diagnosis in pigmentary skin diseases.展开更多
文摘BACKGROUND Dyschromatosis universalis hereditaria(DUH)is a rare type of autosomal dominant inheritance disease.It has varying gene mutation sites among different ethnicities.SASH1 and ABCB6 have been identified as the causative genes of this disorder.CASE SUMMARY A 30-year-old woman presented with irregular black pigmentation spots to our department.Upon examination,the pigmentations were found to be especially dense on the extremities and the face.She had no family history of inbreeding,nor any previous chemical exposure.Genetic testing confirmed that the disease occu-rred because the patient has a SASH1 gene mutation.Following the use of assisted reproductive technology and preimplantation genetic testing for monogenic disorders,the patient give birth to a health baby.CONCLUSION Using assisted reproductive technology/preimplantation genetic testing for monogenic disorders is an option for DUH patients to reduce the risk of trans-mitting the pathogenic variant to their offspring.
基金Supported by Dongguirong National Famous and Old Traditional Chinese Medicine Expert Inheritance Studio Support Project:YY.016.02.01tInternational Standard’formulation of Standardized Manipulations of Acupuncture and Moxibustion:2019YFC1712204Hospital-level Project of Yueyang Hospital of Integrated Traditional Chinese and Western Medicine,Shanghai University of Traditional Chinese Medicine:KY111.30.130。
文摘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.
文摘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.
文摘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.
基金This study was supported by grants from the National Natural Science Foundation of China，Beijing Natural Science Foundation
文摘Background： The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules. Dyschromatosis universalis hereditaria （DUH） and dyschromatosis symmetrica hereditaria are two major types. While clinical and histological presentations are similar in these two diseases, genetic diagnosis is critical in the differential diagnosis of these entities. Methods： Three patients initially diagnosed with DUH were included. The gene test was carried out by targeted gene sequencing. All mutations detected on ADAR1 and ABCB6 genes were analyzed according to the frequency in control database, the mutation types, and the published evidence to determine the pathogenicity. Results： Family pedigree and clinical presentations were reported in 3 patients from two Chinese families. All patients have prominent cutaneous dyschromatoses involving the whole body without systemic complications. Different pathogenic genes in these patients with similar phenotype were identified： One novel mutation on AD,4RI （c. 1325C〉G） and one recurrent mutation in ABCB6 （c. 1270T〉C）, which successfully distinguished two diseases with the similar phenotype. Conclusion： Targeted gene sequencing is an effective tool for genetic diagnosis in pigmentary skin diseases.
