7 citations
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January 2012 in “International Journal of Trichology” A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
July 2003 in “Journal of Cutaneous Medicine and Surgery” Some medications can improve skin conditions, while lifestyle factors like smoking and drinking may worsen them; treatments like monoclonal antibodies and imiquimod cream show promise for certain skin diseases.
71 citations
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January 2011 in “Journal of cutaneous pathology” A rare skin condition was confirmed to be associated with a specific virus in a young girl.
14 citations
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May 1979 in “International Journal of Dermatology” Trichostasis spinulosa mainly affects the nose, with many tiny hairs in one follicle, possibly influenced by hormones and sunlight.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
23 citations
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January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
June 2025 in “British Journal of Dermatology” Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
35 citations
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January 2008 in “American Journal of Clinical Dermatology” KFSD can be linked to acne keloidalis nuchae and tufted hair folliculitis.
3 citations
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February 2020 in “The Egyptian Rheumatologist” Recognizing LET and AITD can help diagnose SLE early for better treatment.
January 2023 in “Open journal of pediatrics” A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
November 2022 in “Journal of the Endocrine Society” A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
January 2025 in “Indian Journal of Dermatopathology and Diagnostic Dermatology” Dermoscopy helps diagnose rare GLPLS in males.
November 2023 in “Gastroenterology” A woman with Budd-Chiari syndrome improved after treatment and needs a liver transplant, highlighting the importance of considering non-criteria antiphospholipid syndrome in similar cases.
2 citations
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July 2023 in “International Journal of Dermatology” Lichen planopilaris patients are more likely to have hypothyroidism.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is crucial for seborrheic dermatitis development.
1 citations
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May 2006 in “Thyroid Research and Practice” Skin can become dry and thick in hypothyroidism.
21 citations
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January 2000 in “Fetal Diagnosis and Therapy” Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
December 2023 in “Journal of General Procedural Dermatology and Venereology Indonesia” A 61-year-old Filipino man had a skin condition that looked like another disease, making diagnosis difficult.
January 2016 in “Dermatology Review” Endocrine disorders can cause various skin and hair issues.
3 citations
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January 2013 in “Türk veterinerlik ve hayvancılık dergisi/Turkish journal of veterinary and animal sciences” A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.
October 2022 in “Boletín médico del Hospital infantil de México/Boletín médico del Hospital Infantil de México” The patient has a rare skin condition that shows features of two known disorders.
1 citations
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June 2014 in “Serbian Journal of Dermatology and Venereology” A woman with discoid lupus improved with treatment after being misdiagnosed with a different hair loss condition.
4 citations
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May 1989 in “Journal of the Royal Society of Medicine” Crohn's disease can cause hair loss before other symptoms appear.
6 citations
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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.
33 citations
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February 2011 in “International Journal of Dermatology” Orange spots in scalp trichoscopy can help diagnose scalp sarcoidosis.
71 citations
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November 2013 in “Clinics in Dermatology” Acne is a chronic disease linked to various systemic conditions and has significant psychological and social effects.
Improved nutrition quickly healed the patient's skin lesions.