22 citations
,
September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
3 citations
,
December 2020 in “Skin Appendage Disorders” This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.
January 2011 in “Junshi yixue” This study established a murine chronic graft-versus-host disease model with scleroderma features, showing typical skin changes and cellular infiltrates associated with the condition.
June 2023 in “Acta Scientifci Nutritional Health” This study found that children with celiac disease who adhered to a gluten-free diet experienced significant improvements in height, weight, and symptoms like diarrhea and abdominal pain, although cases of abdominal distention increased.
April 2017 in “Journal of Investigative Dermatology” This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
This study found that administering gingerol improved survival and reduced organ damage in mouse models of chronic graft-versus-host disease by modulating T cell differentiation and inflammatory cytokines, suggesting a novel therapeutic approach for steroid-refractory cases.
This study introduced the C-CAT, a new assessment tool for central centrifugal cicatricial alopecia, and found that established treatments improved symptoms in most patients over six months.
March 2026 in “Journal of Investigative Dermatology” Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.
5 citations
,
January 2020 in “Wiadomości lekarskie (Warsaw Poland)” This study found that patients with GERD and UCTD have significantly more frequent phenotypic and visceral markers than those with GERD alone, which should inform early diagnostic and treatment strategies.
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.
56 citations
,
December 2011 in “The Plant Journal” AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.
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.
17 citations
,
June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.
May 2022 in “Journal of Cosmetic Dermatology” This study found that concentrated growth factor injections significantly improved hair density, hair follicle density, and hair diameter in 60 patients with androgenic alopecia, with a 93% patient satisfaction rate and no reported complications over a 6-month follow-up period.
2 citations
,
April 2012 in “Science-business Exchange” Blocking a protein called prostaglandin D2 might help treat hair loss.
2 citations
,
August 2020 in “Cosmetics” This study reported unexpected positive results in two males with androgenetic alopecia using a cyclodextrin-enabled, natural-based formula over 270 days, showing marked hair thickening and reduced scalp hair loss.
8 citations
,
January 2023 in “RSC Advances” This article reviews advancements in carbon dots for tissue engineering and regenerative medicine, highlighting challenges and future directions without presenting new clinical findings.
69 citations
,
January 2002 in “Journal of biomedical optics” This study found that commercially available dyes penetrate up to 1.2 mm into human skin, with Indocyanine Green binding to cell proteins and showing a shift in absorption peak.
Men with CCCA often face delayed diagnosis and severe hair loss, highlighting the need for earlier recognition and treatment.
37 citations
,
August 2016 in “Clinical, Cosmetic and Investigational Dermatology” This article discusses central centrifugal cicatricial alopecia, highlighting its prevalence, potential genetic factors, and management challenges, but reports no new clinical conclusions and calls for further research.
54 citations
,
June 2018 in “Nutrients” This review discusses the diverse extra-intestinal manifestations of celiac disease in children and reports no new clinical results; the authors note differences in symptom prevalence and resolution compared to adults.
December 2022 in “Gastroenterology” This report describes a case of Cronkhite-Canada syndrome diagnosed in a 54-year-old man with symptoms including gastrointestinal polyps, alopecia, skin hyperpigmentation, and severe diarrhea, who experienced significant symptom improvement with azathioprine.
November 2024 in “Journal of Investigative Dermatology” Dermal IgA deposition without symptoms is rare in Dermatitis herpetiformis risk groups.
December 2023 in “Asian journal of beauty & cosmetology” February 2026 in “The Laryngoscope” This study reports the first case of airway involvement in Conradi–Hünermann–Happle syndrome, highlighting successful management of severe subglottic stenosis with serial endoscopic balloon dilations in a 2-month-old female.
9 citations
,
July 2020 in “JAMA dermatology” This study explored dermatoscopic and histopathologic findings of central centrifugal cicatricial alopecia beyond the vertex scalp, suggesting that dermatoscopy might serve as a less invasive diagnostic tool for subclinical disease.
August 2013 in “Gastroenterology” This case report highlights a 60-year-old patient's diagnosis with Cronkhite-Canada syndrome, characterized by gastrointestinal polyps, diarrhea, weight loss, brittle nails, alopecia, and skin changes, which showed improvement with treatment.
3 citations
,
February 2022 in “Journal of the American Academy of Dermatology” This article highlights a lack of published data on vitamin D deficiency prevalence among individuals with central centrifugal cicatricial alopecia, despite its known link to other forms of hair loss.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” The researchers reported increased ubiquitination of proteins such as the insulin receptor in CYLD cutaneous syndrome skin tumors, suggesting that CYLD dysfunction may affect protein secretion and signaling processes.
2 citations
,
April 2023 in “American Journal of Dermatopathology” This study suggests that central centrifugal cicatricial alopecia may involve a CD4-predominant T-cell process with potential PD1/PDL1 pathway involvement, indicated by increased caspase 3 expression and loss of PDL1.