3 citations
,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
1 citations
,
July 2018 in “JAMA dermatology” Poliosis causes white hair patches due to lack of melanin.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
May 2026 in “Frontiers in Medicine” The patient's hair improved after treatment, but the genetic link is unclear.
December 2022 in “Curēus” Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
April 2025 in “Indian Journal of Paediatric Dermatology” Zinc supplements improved the girl's skin and hair condition.
1 citations
,
November 2022 in “International journal of trichology” A girl with a rare skin condition improved after one month of treatment with acitretin.
2 citations
,
April 2018 in “Journal of Investigative Dermatology” Frontal fibrosing alopecia shows increased inflammation and JAK-STAT pathway activity without reduced hair proteins.
5 citations
,
January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
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.
February 2026 in “Pediatric Dermatology” 71 citations
,
January 2011 in “Journal of cutaneous pathology” A rare skin condition was confirmed to be associated with a specific virus in a young girl.
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
20 citations
,
January 1997 in “Dermatology” The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
August 2021 in “Journal of Investigative Dermatology” ILC1-like cells can cause alopecia areata by disrupting hair follicle immunity, suggesting a new treatment approach.
July 2025 in “Journal of Investigative Dermatology”
August 2025 in “International Journal of Research in Dermatology” Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
3 citations
,
February 2012 in “The American Journal of Dermatopathology” A 3-year-old girl with skin mast cell buildup and congenital baldness improved with treatment, suggesting a rare link between these conditions.
4 citations
,
March 1999 in “International Journal of STD & AIDS” Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.
January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
11 citations
,
October 2018 in “Pediatric dermatology” Leflunomide and anthralin may effectively treat severe alopecia areata.
2 citations
,
March 2011 in “International Journal of Dermatology” An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
February 2026 in “Journal of Advances in Biology & Biotechnology” Alopecia areata causes unpredictable hair loss and requires personalized treatment.
6 citations
,
June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
5 citations
,
October 2019 in “JAAD Case Reports” These hair loss conditions might be part of a spectrum, not separate issues.
12 citations
,
June 2010 in “Journal of dermatology” Some patients with severe alopecia areata developed skin darkening from their treatment, which may indicate a less effective response to the therapy.
4 citations
,
April 1978 in “PubMed” Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
August 2024 in “JAAD Case Reports” Upadacitinib successfully regrew hair in a child with alopecia universalis and specific genetic mutations.