1 citations
,
November 2024 in “Journal of Investigative Dermatology” Er:YAG laser therapy effectively treats Hailey-Hailey disease, leading to long-term remission and improved quality of life.
October 2017 in “The American journal of gastroenterology” This study reports a case linking the use of the herbal supplement He Shou Wu (Polygonum multiflorum) to acute hepatocellular hepatitis, highlighting potential herb-induced liver injury.
1 citations
,
May 2019 in “Journal of The European Academy of Dermatology and Venereology” New method, hair distribution width (HDW), improves accuracy in diagnosing androgenetic alopecia (AGA).
3 citations
,
January 2021 in “Hair transplant forum international” This study found that visual hair density is better correlated with hair count and shaft diameter, leading to the development of the Hair Diameter Index used in planning hair restoration procedures.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
2 citations
,
January 2016 in “Experimental Dermatology” This symposium updated participants on the latest advances in understanding and managing hidradenitis suppurativa, emphasizing the need for individualized treatment plans and highlighting recent progress in therapies and epidemiology.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
19 citations
,
May 2004 in “The American Journal of Dermatopathology” In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.
3 citations
,
May 2015 in “Journal of The American Academy of Dermatology” Adalimumab significantly improves quality of life for patients with moderate to severe hidradenitis suppurativa.
January 2019 in “Springer eBooks” Modified HDL can better deliver drugs and genes, potentially improving treatments and reducing side effects.
15 citations
,
November 2012 in “Archives of Ophthalmology” This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.
February 2023 in “Archives of Dermatological Research” This study found that despite challenges, a combination of oral antibiotics, anti-androgens, oral retinoids, biologics, and surgery were important in managing hidradenitis suppurativa in patients with intellectual and developmental disabilities.
30 citations
,
June 2015 in “Dermatologic Surgery” This abstract does not provide any new research findings or results.
2 citations
,
January 2020 in “Evidence-based Complementary and Alternative Medicine” This study found that Hataedock may alleviate atopic dermatitis symptoms in mice by maintaining skin homeostasis and improving skin barrier formation through the endocannabinoid system.
3 citations
,
May 2018 in “Experimental Dermatology” In this study, the researchers reported that patient impacts and symptoms of hidradenitis suppurativa, as assessed by HSIA and HSSA measures, are associated with clinical characteristics such as the number of abscesses and inflammatory nodules.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
37 citations
,
August 2011 in “Journal of Bone and Mineral Research” This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.
1 citations
,
July 2021 in “Acta dermatovenerologica Croatica” This case report describes regression of hidradenitis suppurativa lesions in two patients after 16 weeks of adalimumab treatment.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
6 citations
,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.
4 citations
,
May 2020 in “Journal of the American Academy of Dermatology” This study found that hidradenitis suppurativa encounters most commonly occur with family or internal medicine providers, with frequent opiate prescriptions and low use of nonantibiotic systemic treatments.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
2 citations
,
May 2006 in “Archives of Pathology & Laboratory Medicine” This case report describes a 40-year-old woman with Birt-Hogg-Dubé syndrome diagnosed with multiple chromophobe renal cell carcinomas, highlighting the importance of recognizing associated dermatologic lesions for early intervention.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
December 2022 in “Research Square (Research Square)” In this study, a comprehensive treatment approach involving multiple therapies was found to play a crucial role in managing hidradenitis suppurativa in patients with intellectual and developmental disorders despite practical challenges.
23 citations
,
July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
41 citations
,
November 2019 in “Journal of Ultrasound in Medicine” This study found that 70-MHz ultrasound can detect early signs of hidradenitis suppurativa linked to severity, including hair follicle abnormalities and keratin fragmentation, aiding in diagnosis and management.
29 citations
,
June 2017 in “Journal of Inherited Metabolic Disease” This review discusses the potential of using high-throughput and high-content screening methods for drug repositioning in rare diseases and reports no new results.