A rare case of hypotrichosis with juvenile macular dystrophy (HJMD) was identified in a six-year-old Saudi girl with sparse scalp hair and progressive vision loss. Born to consanguineous parents, she exhibited symptoms from birth, including decreased night vision and cone-rod dysfunction. Genetic analysis revealed a homozygous missense mutation, c.1918T>G (p.Cys640Gly), in the CDH3 gene. This finding contributes to the understanding of the genetic spectrum of HJMD in Saudi Arabia, highlighting the importance of genetic evaluation in patients with similar clinical features.
4 citations
,
October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
122 citations
,
December 2022 in “International Journal of Molecular Sciences” Nanoparticles improve skin treatment but need more research on safety and effectiveness.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
7 citations
,
July 2011 in “Survey of Ophthalmology” The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
11 citations
,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
10 citations
,
February 2015 in “Clinics in Dermatology” The document concludes that changes in eyelashes and eyelid skin can indicate various local and systemic diseases.
October 2023 in “Biomedical science and engineering” Innovative methods are reducing animal testing and improving biomedical research.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
520 citations
,
January 2017 in “AIMS biophysics” Photobiomodulation therapy using red and near-infrared light can reduce inflammation and aid in healing various conditions.
53 citations
,
October 1993 in “Drug Safety” Oral retinoids can cause side effects ranging from mild to severe, including birth defects, and require careful monitoring and contraception.
16 citations
,
September 2016 in “Neuropharmacology” Activating TSPO helps protect the retina from damage caused by high eye pressure in glaucoma.
73 citations
,
June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
47 citations
,
June 1996 in “International Journal of Legal Medicine” Hair analysis for drugs needs a better understanding of how drugs enter hair, considering factors like hair structure and pigmentation.
5 citations
,
February 2024 in “Frontiers in bioengineering and biotechnology” Electrospun scaffolds can improve healing in diabetic wounds.
9 citations
,
July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
May 2023 in “International journal of molecular sciences” The ABCA4 gene protects hair follicle stem cells from toxic vitamin A byproducts.
January 2025 in “Journal of Cutaneous and Aesthetic Surgery” Low-level laser therapy effectively improves hair growth in androgenetic alopecia with minimal side effects.
26 citations
,
July 2023 in “International Journal of Nanomedicine” The microneedle system shows promise for non-invasive brain drug delivery.
5 citations
,
January 2023 in “International Journal of Molecular Sciences” Hair follicles could be used to noninvasively monitor our body's internal clock and help identify risks for related diseases.
154 citations
,
November 2017 in “Development” Fibroblast Growth Factors (FGFs) are important for tissue repair and regeneration, influencing cell behavior and other factors involved in healing, and are crucial in processes like wound healing, bone repair, and hair growth.
November 2025 in “Journal of Pharmacy and Pharmacology” PEDF reduces oxidative damage and supports stem cells.
May 2020 in “Authorea (Authorea)” Olfactory receptors found outside the nose may offer new treatments for diseases like cancer and help in wound healing and hair growth.
22 citations
,
September 2004 in “Journal of The European Academy of Dermatology and Venereology” Bimatoprost can cause longer, thicker, darker eyelashes and eyebrows.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
August 2022 in “Case reports in medicine” Long eyelashes in a patient were an unusual sign of systemic lupus erythematosus.
February 2021 in “Journal of the Korean Ophthalmological Society” A 7-year-old girl had unusually long eyelashes with no known cause or related health issues.