9 citations
,
April 2020 in “Journal of dermatology” A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
Spiny keratoderma is a rare skin condition with small spines on palms and soles, possibly linked to abnormal hair formation.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
3 citations
,
April 2009 in “Congestive Heart Failure” Sympathetic activation and venous tone are crucial for heart failure symptoms.
May 2023 in “Surgical Case Reports” A woman's hair loss improved after removing a tumor in her thymus gland, suggesting hair loss can be linked to such tumors even without a specific muscle weakness condition.
53 citations
,
October 2014 in “Free radical biology & medicine” Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
8 citations
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November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
372 citations
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December 2004 in “Nature Genetics”
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
1 citations
,
November 2003 in “SKINmed Dermatology for the Clinician” A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.
1 citations
,
November 2021 in “Translational pediatrics” Glucocorticoids for progressive muscular dystrophy in children don't improve muscle strength or function but do increase certain side effects.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
September 2024 in “Actas Dermo-Sifiliográficas” Trichodynia is a painful scalp condition linked to hair loss and mental health issues, with limited treatment options.
8 citations
,
October 2020 in “Clinical Psychopharmacology and Neuroscience” rTMS may help treat trichotillomania in some patients.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
181 citations
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
33 citations
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June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
8 citations
,
November 1990 in “Archives of Dermatology” A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
September 2025 in “Dicle Medical Journal / Dicle Tip Dergisi” Skin issues are common in people with neurodegenerative diseases.
April 2016 in “Journal of Investigative Dermatology” Microneedle arrays deliver botulinum toxin effectively for sweat suppression, similar to injections.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
2 citations
,
January 2014 in “Indian dermatology online journal” A person was born with both a rare hairless condition and a type of birthmark, which is an uncommon combination.
1 citations
,
January 2018 in “Indian dermatology online journal” The girl has both monilethrix and Type 1 diabetes, but no link between the two conditions is known.
27 citations
,
August 2017 in “Anais Brasileiros de Dermatologia” N-acetylcysteine effectively treats trichotillomania.
21 citations
,
September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
14 citations
,
June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
2 citations
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December 2013 in “The Journal of Dermatology” January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.