13 citations
,
July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
3 citations
,
June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
5 citations
,
January 2009 in “International Journal of Trichology” Two siblings had a rare hair condition with banded hair, which doesn't need treatment.
12 citations
,
January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
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.
1 citations
,
January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
January 2024 in “International Journal of Advanced Research” Topical 6% salicylic acid effectively reduced skin plaques in a patient with wooly hair and palmoplantar keratoderma.
14 citations
,
July 2012 in “Journal of the American Academy of Dermatology” Topical tacalcitol ointment can help improve symptoms of EFFC.
2 citations
,
August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
12 citations
,
January 2017 in “Skin appendage disorders” Two patients with skin lupus were mistakenly thought to have a different scalp condition but improved with lupus treatment.
1 citations
,
April 2017 in “Journal of Investigative Dermatology” D-OCT shows increased blood vessel growth in response to tissue damage in Frontal Fibrosing Alopecia and is useful for diagnosis and monitoring.
December 2024 in “JAAD International”
1 citations
,
September 2021 in “CRC Press eBooks” Frontal Fibrosing Alopecia is a hair loss condition mainly affecting postmenopausal women, with unclear causes and various clinical patterns.
8 citations
,
January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
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.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
13 citations
,
July 2012 in “International Journal of Trichology” TTD symptoms vary widely, requiring thorough evaluations.
4 citations
,
January 2014 in “Indian dermatology online journal” Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
1 citations
,
March 2013 in “Journal of Dermatological Case Reports” A rare skin condition affected only the facial hair of a 46-year-old man.
30 citations
,
May 2005 in “Pediatric dermatology” Some families have a genetic condition where they are born with irregular scalp defects.
27 citations
,
July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology” January 2011 in “Linchuang pifuke zazhi” January 2016 in “Indian dermatology online journal” Frontal fibrosing alopecia causes hair loss at the front hairline, and no effective treatment exists.
12 citations
,
November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
April 2023 in “International journal of molecular sciences” People with Collagen VI-related myopathies may often have hair loss and scalp issues.
3 citations
,
April 2011 in “Journal of the American Academy of Dermatology” A 19-year-old man had a rare skin condition on one side of his face that looked like another skin disease.
44 citations
,
March 2019 in “Experimental Dermatology” A wide range of proteins are integrated into the skin's protective layer.