39 citations
,
July 2008 in “Dermatologic Therapy” Pseudopelade of Brocq is a unique hair loss condition, but its cause and development are still not fully understood.
1 citations
,
January 1999 in “Proceedings of the British Society of Animal Science” Biotin helps maintain hair follicle growth by affecting cell death and survival signals.
September 2024 in “International Journal of Contemporary Pediatrics” A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.
26 citations
,
January 1983 in “PubMed” Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
7 citations
,
December 2014 in “Australasian journal of dermatology” Insulin resistance is not more common in idiopathic hirsutism patients than in healthy individuals.
36 citations
,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the Hoxc13 gene in frogs shows its crucial role in developing skin structures similar to hair.
20 citations
,
August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
1 citations
,
November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
April 2018 in “Nasza Dermatologia Online” People with Down's syndrome are more likely to have syringomas.
January 2022 in “Indian dermatology online journal” Pigmented papules on the ear can be a rare skin condition called cutaneous amyloidosis, treatable with topical tretinoin.
20 citations
,
April 2000 in “Experimental dermatology” ODC transgenic mice can model human hair loss with skin lesions.
65 citations
,
September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
30 citations
,
July 2019 in “Endocrinology” Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
11 citations
,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
56 citations
,
March 2010 in “Journal of Dermatology” Most cases of Temporal Triangular Alopecia are found in early childhood and may be related to genetic conditions.
10 citations
,
June 2024 in “American Journal of Clinical Dermatology” Hedgehog pathway inhibitors for advanced basal cell carcinoma can cause side effects, but managing them helps maintain treatment.
1 citations
,
November 1995 in “Postgraduate medical journal” A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
May 2024 in “Rossijskaâ oftalʹmologiâ onlajn” Early treatment with corticosteroids improved her eye condition significantly.
Alopecia universalis may be linked to Down syndrome due to genes on chromosome 21.
January 2019 in “International Journal of Clinical & Medical Images” The patient showed signs of liver disease due to alcohol use but didn't need treatment for Dupuytren’s contracture.
12 citations
,
July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
August 2013 in “Gastroenterology” A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
January 2011 in “Yearbook of Dermatology and Dermatologic Surgery” 5 citations
,
January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
November 2024 in “NeoReviews” An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
17 citations
,
June 2017 in “British Journal of Dermatology” The article concludes that hair loss is a common side effect of drugs treating skin cancer by blocking the hedgehog pathway, but treatment should continue, and more selective drugs might prevent this side effect.
4 citations
,
May 2006 in “médecine/sciences” The hairless gene is crucial for hair health, and its mutations cause hair loss.
6 citations
,
August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.