3 citations
,
December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
January 2026 in “Indian Journal of Paediatric Dermatology” A rare case shows a possible link between Neurofibromatosis type 1 and Becker nevus due to genetic mutations.
26 citations
,
January 1993 in “Dermatology” A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
June 2025 in “V F Snegirev Archives of Obstetrics and Gynecology” A six-year-old girl has early signs of puberty, needs no treatment, but requires regular check-ups for future health risks.
March 2025 in “International Journal of Trichology” FAPD in children may not depend on androgens and should be treated with anti-inflammatory measures and minoxidil.
October 2025 in “Indian Journal of Paediatric Dermatology” Zinc treatment improved skin and hair issues in a boy with a zinc-related condition.
2 citations
,
October 1974 in “Archives of Dermatology” The woman's skin condition persisted for 20 years despite treatments.
13 citations
,
January 2018 in “International Journal of Dermatology” The study found that treatment improved hair condition in patients with Fibrosing Alopecia in a Pattern Distribution in Chile.
3 citations
,
January 2015 in “Indian journal of paediatric dermatology” Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
June 2018 in “Journal of Clinical Periodontology” A patient with "strawberry gingivitis" improved after correct treatment for Granulomatosis with polyangiitis, highlighting the need for early diagnosis.
3 citations
,
June 2023 in “American Journal of Forensic Medicine & Pathology” A child died from eating hair, causing severe stomach blockages and infection.
1 citations
,
June 2022 in “Movement disorders clinical practice” A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
87 citations
,
July 2009 in “Journal of Cell Science” Deleting the CDSN gene causes severe skin and hair problems, leading to death.
August 2025 in “The Nishinihon Journal of Dermatology” Prednisolone treatment improved symptoms and hair regrowth in a patient with Cronkhite-Canada Syndrome.
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
35 citations
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May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
October 2024 in “Journal of the Endocrine Society” Sheehan syndrome can cause hormone deficiencies after childbirth, but treatment can improve symptoms.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
September 2017 in “Journal of Dermatology & Cosmetology” Hepatitis C treatment may cause frontal fibrosing alopecia.
65 citations
,
December 1986 in “The Journal of Clinical Endocrinology & Metabolism” The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.
Careful diagnosis is crucial for premature pubarche, as 20% of cases have other conditions.
8 citations
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October 2014 in “The Journal of Dermatology” Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
January 2021 in “Skin appendage disorders” The report concludes that atypical Brauer nevus is more common in males, present at birth, and often misdiagnosed due to its unusual scalp locations.
21 citations
,
April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
124 citations
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January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
54 citations
,
January 1983 in “Archives of Dermatology” KFSD is a rare condition causing scarring hair loss, with no effective treatment known at the time of the report.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
8 citations
,
January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
32 citations
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April 2019 in “JAAD case reports” JAK inhibitors helped treat hair loss in two people with Down syndrome.
April 2024 in “International Journal of Women’s Dermatology” Laser hair reduction can sometimes cause a rare skin condition called Fox-Fordyce disease.