8 citations
,
January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
April 2013 in “Journal of the American Academy of Dermatology” Diabetic patients often have ingrown nails due to obesity, high blood pressure, past injuries, bad nail trimming, nail fungus, weak foot pulse, and weak knee reflex.
25 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
15 citations
,
March 2009 in “Pediatric dermatology” A young girl developed unusually long eyelashes with a hair loss condition without other health issues or medication causes.
10 citations
,
January 1995 in “Dermatology” Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
1 citations
,
June 2011 in “Journal of Genetics” Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
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.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
2 citations
,
August 1993 in “Archives of Dermatology” A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.
May 2025 in “The Journal of Rheumatology” A woman with skin and joint issues progressed from one type of lupus to another, highlighting the need to recognize complex conditions.
1 citations
,
January 2022 Autoimmune Polyendocrine Syndromes involve specific combinations of endocrine and non-endocrine autoimmune diseases.
5 citations
,
September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
4 citations
,
August 2021 in “Pediatrics in review” DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
19 citations
,
March 1988 in “International Journal of Dermatology” Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.
September 2024 in “Turkish Journal of Dermatology” A lower second to fourth finger length ratio may predict male alopecia areata.
October 2019 in “Journal of Evolution of Medical and Dental Sciences” A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
10 citations
,
June 1999 in “Veterinary Dermatology” Two cows had a rare hair disorder causing hair loss but were otherwise healthy.
2 citations
,
May 2007 in “Pediatrics in Review” Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
February 2025 in “American Journal of Biomedical Science & Research” A rare combination of hair loss and excessive fine hair growth was found in celiac disease patients.
November 2025 in “Journal of Skin and Sexually Transmitted Diseases” Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
96 citations
,
February 2007 in “The Journal of Clinical Endocrinology & Metabolism” Women with type 1 diabetes often have polycystic ovary syndrome and excess male hormones, which are frequently undiagnosed.
62 citations
,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
3 citations
,
March 2021 in “Journal of Pediatric and Adolescent Gynecology” Girls with Pilonidal Disease are more likely to have Polycystic Ovarian Syndrome, and treating PCOS may reduce the need for PD intervention.
3 citations
,
September 2016 in “Pediatric Dermatology” Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
6 citations
,
October 2010 in “Gynecological Endocrinology” Relatives of women with PCOS symptoms are more likely to have similar health issues.
January 2026 in “Clinical Case Reports” A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.
August 2018 in “Pediatric Dermatology” A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.